17-44039691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039691
    reference: chr 17
allele count: 17310
allele frequency: 1.487982670288485e-1
allele num: 116332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-206A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.116A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 2.75e1
  variant carriers: 3012
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 1399
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.25e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.75e1
  variant carriers: 1615
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 721
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.25e1
  variant carriers: 2493
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.25e1
  variant carriers: 1045
genotype depth: GenotypeDepth
  all individuals: 29103
  bin: 2.25e1
  variant carriers: 2497
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 38
num of homozygotes: 1627
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-44039697-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039697
    reference: chr 17
allele count: 2
allele frequency: 1.703693607741584e-5
allele num: 117392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-200A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.122A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.-7A>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31824
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-44039716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039716
    reference: chr 17
allele count: 2
allele frequency: 1.685914186967883e-5
allele num: 118630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.13C>T
  hgvsp: ENSP00000408975.3:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-181C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.13C>T
  hgvsp: ENSP00000334886.8:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.13C>T
  hgvsp: ENSP00000303214.7:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.13C>T
  hgvsp: ENSP00000340820.5:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.13C>T
  hgvsp: ENSP00000460048.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.13C>T
  hgvsp: ENSP00000443028.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.13C>T
  hgvsp: ENSP00000262410.5:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.13C>T
  hgvsp: ENSP00000458742.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.13C>T
  hgvsp: ENSP00000340438.5:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.13C>T
  hgvsp: ENSP00000410838.2:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.13C>T
  hgvsp: ENSP00000413056.2:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.13C>T
  hgvsp: ENSP00000460965.1:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.141C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.13C>T
  hgvsp: ENSP00000389250.3:p.Arg5Cys
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-44039717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039717
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039717
    reference: chr 17
allele count: 7
allele frequency: 5.898412484411338e-5
allele num: 118676
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.14G>A
  hgvsp: ENSP00000389250.3:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.14G>A
  hgvsp: ENSP00000460965.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.14G>A
  hgvsp: ENSP00000340438.5:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.142G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.14G>A
  hgvsp: ENSP00000458742.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.14G>A
  hgvsp: ENSP00000408975.3:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.14G>A
  hgvsp: ENSP00000410838.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.14G>A
  hgvsp: ENSP00000334886.8:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.14G>A
  hgvsp: ENSP00000460048.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.14G>A
  hgvsp: ENSP00000443028.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.14G>A
  hgvsp: ENSP00000303214.7:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.14G>A
  hgvsp: ENSP00000413056.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-180G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.14G>A
  hgvsp: ENSP00000262410.5:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.14G>A
  hgvsp: ENSP00000340820.5:p.Arg5His
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

17-44039721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039721
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039721
    reference: chr 17
allele count: 4
allele frequency: 3.364737550471063e-5
allele num: 118880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.18G>A
  hgvsp: ENST00000420682.2:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.18G>A
  hgvsp: ENST00000340799.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.18G>A
  hgvsp: ENST00000344290.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.18G>A
  hgvsp: ENST00000415613.2:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.18G>A
  hgvsp: ENST00000574436.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.18G>A
  hgvsp: ENST00000535772.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.146G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.18G>A
  hgvsp: ENST00000351559.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.18G>A
  hgvsp: ENST00000334239.8:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.18G>A
  hgvsp: ENST00000571311.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.18G>A
  hgvsp: ENST00000446361.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-176G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.18G>A
  hgvsp: ENST00000571987.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.18G>A
  hgvsp: ENST00000262410.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.18G>A
  hgvsp: ENST00000431008.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln6Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

17-44039722-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039722
    reference: chr 17
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.19G>T
  hgvsp: ENSP00000303214.7:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.147G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.19G>T
  hgvsp: ENSP00000458742.1:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.19G>T
  hgvsp: ENSP00000340438.5:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.19G>T
  hgvsp: ENSP00000413056.2:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.19G>T
  hgvsp: ENSP00000408975.3:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.19G>T
  hgvsp: ENSP00000443028.1:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.19G>T
  hgvsp: ENSP00000410838.2:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.19G>T
  hgvsp: ENSP00000389250.3:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-175G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.19G>T
  hgvsp: ENSP00000460048.1:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.19G>T
  hgvsp: ENSP00000460965.1:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.19G>T
  hgvsp: ENSP00000340820.5:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.19G>T
  hgvsp: ENSP00000334886.8:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.19G>T
  hgvsp: ENSP00000262410.5:p.Glu7Ter
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu7Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-44039728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039728
    reference: chr 17
allele count: 3
allele frequency: 2.520966034184299e-5
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.153G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-169G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.25G>A
  hgvsp: ENSP00000334886.8:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.25G>A
  hgvsp: ENSP00000410838.2:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.25G>A
  hgvsp: ENSP00000262410.5:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.25G>A
  hgvsp: ENSP00000303214.7:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.25G>A
  hgvsp: ENSP00000460048.1:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.25G>A
  hgvsp: ENSP00000408975.3:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.25G>A
  hgvsp: ENSP00000460965.1:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.25G>A
  hgvsp: ENSP00000458742.1:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.25G>A
  hgvsp: ENSP00000340820.5:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.25G>A
  hgvsp: ENSP00000413056.2:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.25G>A
  hgvsp: ENSP00000443028.1:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.25G>A
  hgvsp: ENSP00000389250.3:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.25G>A
  hgvsp: ENSP00000340438.5:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu9Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-44039739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039739
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039739
    reference: chr 17
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.36A>G
  hgvsp: ENST00000420682.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.36A>G
  hgvsp: ENST00000334239.8:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.36A>G
  hgvsp: ENST00000571311.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.36A>G
  hgvsp: ENST00000262410.5:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.36A>G
  hgvsp: ENST00000446361.3:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-158A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.36A>G
  hgvsp: ENST00000415613.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.36A>G
  hgvsp: ENST00000535772.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.36A>G
  hgvsp: ENST00000431008.3:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.36A>G
  hgvsp: ENST00000351559.5:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.36A>G
  hgvsp: ENST00000340799.5:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.36A>G
  hgvsp: ENST00000571987.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.36A>G
  hgvsp: ENST00000574436.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.164A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.36A>G
  hgvsp: ENST00000344290.5:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu12Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

17-44039740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039740
    reference: chr 17
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.37G>A
  hgvsp: ENSP00000334886.8:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.37G>A
  hgvsp: ENSP00000413056.2:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.37G>A
  hgvsp: ENSP00000410838.2:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.37G>A
  hgvsp: ENSP00000458742.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.37G>A
  hgvsp: ENSP00000389250.3:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.37G>A
  hgvsp: ENSP00000340820.5:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.165G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.37G>A
  hgvsp: ENSP00000303214.7:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.37G>A
  hgvsp: ENSP00000460965.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.37G>A
  hgvsp: ENSP00000443028.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.37G>A
  hgvsp: ENSP00000340438.5:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.37G>A
  hgvsp: ENSP00000460048.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-157G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.37G>A
  hgvsp: ENSP00000408975.3:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.37G>A
  hgvsp: ENSP00000262410.5:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13Asn
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-44039742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039742
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039742
    reference: chr 17
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.39T>C
  hgvsp: ENST00000535772.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.39T>C
  hgvsp: ENST00000571987.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.39T>C
  hgvsp: ENST00000446361.3:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.39T>C
  hgvsp: ENST00000344290.5:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.39T>C
  hgvsp: ENST00000571311.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.167T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.39T>C
  hgvsp: ENST00000415613.2:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.39T>C
  hgvsp: ENST00000334239.8:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.39T>C
  hgvsp: ENST00000351559.5:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.39T>C
  hgvsp: ENST00000340799.5:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.39T>C
  hgvsp: ENST00000262410.5:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-155T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.39T>C
  hgvsp: ENST00000574436.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.39T>C
  hgvsp: ENST00000431008.3:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.39T>C
  hgvsp: ENST00000420682.2:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-44039745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039745
    reference: chr 17
allele count: 4
allele frequency: 3.357225588773438e-5
allele num: 119146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.42C>T
  hgvsp: ENST00000415613.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.42C>T
  hgvsp: ENST00000262410.5:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.42C>T
  hgvsp: ENST00000344290.5:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.42C>T
  hgvsp: ENST00000446361.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.42C>T
  hgvsp: ENST00000340799.5:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.42C>T
  hgvsp: ENST00000574436.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.42C>T
  hgvsp: ENST00000334239.8:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.42C>T
  hgvsp: ENST00000571311.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-152C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.42C>T
  hgvsp: ENST00000571987.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.42C>T
  hgvsp: ENST00000351559.5:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.42C>T
  hgvsp: ENST00000535772.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.42C>T
  hgvsp: ENST00000420682.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.42C>T
  hgvsp: ENST00000431008.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.170C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His14His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

17-44039746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039746
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039746
    reference: chr 17
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.43G>A
  hgvsp: ENSP00000334886.8:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.43G>A
  hgvsp: ENSP00000303214.7:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-151G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.43G>A
  hgvsp: ENSP00000340820.5:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.43G>A
  hgvsp: ENSP00000408975.3:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.43G>A
  hgvsp: ENSP00000410838.2:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.43G>A
  hgvsp: ENSP00000262410.5:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.43G>A
  hgvsp: ENSP00000340438.5:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.43G>A
  hgvsp: ENSP00000413056.2:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.43G>A
  hgvsp: ENSP00000460048.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.43G>A
  hgvsp: ENSP00000389250.3:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.43G>A
  hgvsp: ENSP00000443028.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.43G>A
  hgvsp: ENSP00000458742.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.43G>A
  hgvsp: ENSP00000460965.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.171G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala15Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-44039750-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039750
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039750
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 119154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.47G>T
  hgvsp: ENSP00000303214.7:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.47G>T
  hgvsp: ENSP00000413056.2:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.47G>T
  hgvsp: ENSP00000334886.8:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.47G>T
  hgvsp: ENSP00000410838.2:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.175G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-147G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.47G>T
  hgvsp: ENSP00000458742.1:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.47G>T
  hgvsp: ENSP00000460965.1:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.47G>T
  hgvsp: ENSP00000340438.5:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.47G>T
  hgvsp: ENSP00000460048.1:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.47G>T
  hgvsp: ENSP00000340820.5:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.47G>T
  hgvsp: ENSP00000443028.1:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.47G>T
  hgvsp: ENSP00000389250.3:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.47G>T
  hgvsp: ENSP00000262410.5:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.47G>T
  hgvsp: ENSP00000408975.3:p.Gly16Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly16Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-44039752-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039752
    reference: chr 17
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.49A>T
  hgvsp: ENSP00000443028.1:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.49A>T
  hgvsp: ENSP00000303214.7:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.49A>T
  hgvsp: ENSP00000460965.1:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.49A>T
  hgvsp: ENSP00000413056.2:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.49A>T
  hgvsp: ENSP00000460048.1:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.49A>T
  hgvsp: ENSP00000458742.1:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.49A>T
  hgvsp: ENSP00000340820.5:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.177A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-145A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.49A>T
  hgvsp: ENSP00000262410.5:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.49A>T
  hgvsp: ENSP00000410838.2:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.49A>T
  hgvsp: ENSP00000334886.8:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.49A>T
  hgvsp: ENSP00000408975.3:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.49A>T
  hgvsp: ENSP00000340438.5:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.49A>T
  hgvsp: ENSP00000389250.3:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr17Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

17-44039753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039753
    reference: chr 17
allele count: 26
allele frequency: 2.182709582095065e-4
allele num: 119118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.50C>T
  hgvsp: ENSP00000458742.1:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.50C>T
  hgvsp: ENSP00000334886.8:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.50C>T
  hgvsp: ENSP00000460965.1:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.50C>T
  hgvsp: ENSP00000460048.1:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.50C>T
  hgvsp: ENSP00000410838.2:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.50C>T
  hgvsp: ENSP00000413056.2:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.178C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.50C>T
  hgvsp: ENSP00000408975.3:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.50C>T
  hgvsp: ENSP00000262410.5:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-144C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.50C>T
  hgvsp: ENSP00000340820.5:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.50C>T
  hgvsp: ENSP00000340438.5:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.50C>T
  hgvsp: ENSP00000303214.7:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.50C>T
  hgvsp: ENSP00000443028.1:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.50C>T
  hgvsp: ENSP00000389250.3:p.Thr17Met
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30367
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr17Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-44039754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039754
    reference: chr 17
allele count: 10
allele frequency: 8.396305625524769e-5
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.51G>A
  hgvsp: ENST00000262410.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.51G>A
  hgvsp: ENST00000344290.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.51G>A
  hgvsp: ENST00000571987.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.51G>A
  hgvsp: ENST00000415613.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-143G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.51G>A
  hgvsp: ENST00000351559.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.51G>A
  hgvsp: ENST00000334239.8:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.51G>A
  hgvsp: ENST00000340799.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.51G>A
  hgvsp: ENST00000571311.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.51G>A
  hgvsp: ENST00000431008.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.51G>A
  hgvsp: ENST00000574436.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.51G>A
  hgvsp: ENST00000535772.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.51G>A
  hgvsp: ENST00000446361.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.179G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.51G>A
  hgvsp: ENST00000420682.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr17Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-44039757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039757
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039757
    reference: chr 17
allele count: 13
allele frequency: 1.091684721452445e-4
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.54C>T
  hgvsp: ENST00000334239.8:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.182C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.54C>T
  hgvsp: ENST00000340799.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.54C>T
  hgvsp: ENST00000420682.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.54C>T
  hgvsp: ENST00000446361.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.54C>T
  hgvsp: ENST00000535772.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.54C>T
  hgvsp: ENST00000415613.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.54C>T
  hgvsp: ENST00000574436.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.54C>T
  hgvsp: ENST00000571987.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.54C>T
  hgvsp: ENST00000571311.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.54C>T
  hgvsp: ENST00000351559.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.54C>T
  hgvsp: ENST00000431008.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-140C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.54C>T
  hgvsp: ENST00000262410.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.54C>T
  hgvsp: ENST00000344290.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr18Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

17-44039758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039758
    reference: chr 17
allele count: 4
allele frequency: 3.359142746771024e-5
allele num: 119078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.55G>A
  hgvsp: ENSP00000410838.2:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.55G>A
  hgvsp: ENSP00000340820.5:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.55G>A
  hgvsp: ENSP00000408975.3:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.55G>A
  hgvsp: ENSP00000340438.5:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.55G>A
  hgvsp: ENSP00000458742.1:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.55G>A
  hgvsp: ENSP00000303214.7:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.55G>A
  hgvsp: ENSP00000413056.2:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.55G>A
  hgvsp: ENSP00000262410.5:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.55G>A
  hgvsp: ENSP00000443028.1:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.55G>A
  hgvsp: ENSP00000460965.1:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.55G>A
  hgvsp: ENSP00000460048.1:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.55G>A
  hgvsp: ENSP00000334886.8:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.55G>A
  hgvsp: ENSP00000389250.3:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-139G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.183G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly19Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-44039761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039761
    reference: chr 17
allele count: 1
allele frequency: 8.39560070523046e-6
allele num: 119110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.58T>C
  hgvsp: ENST00000334239.8:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.58T>C
  hgvsp: ENST00000571987.1:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.58T>C
  hgvsp: ENST00000340799.5:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.186T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.58T>C
  hgvsp: ENST00000571311.1:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-136T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.58T>C
  hgvsp: ENST00000351559.5:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.58T>C
  hgvsp: ENST00000431008.3:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.58T>C
  hgvsp: ENST00000344290.5:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.58T>C
  hgvsp: ENST00000415613.2:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.58T>C
  hgvsp: ENST00000420682.2:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.58T>C
  hgvsp: ENST00000262410.5:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.58T>C
  hgvsp: ENST00000535772.1:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.58T>C
  hgvsp: ENST00000446361.3:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.58T>C
  hgvsp: ENST00000574436.1:c.58T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu20Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-44039765-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039765
    reference: chr 17
allele count: 3
allele frequency: 2.520669489816495e-5
allele num: 119016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.62G>T
  hgvsp: ENSP00000334886.8:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.62G>T
  hgvsp: ENSP00000443028.1:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.62G>T
  hgvsp: ENSP00000389250.3:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.62G>T
  hgvsp: ENSP00000340438.5:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.62G>T
  hgvsp: ENSP00000413056.2:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.62G>T
  hgvsp: ENSP00000458742.1:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.62G>T
  hgvsp: ENSP00000460048.1:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.62G>T
  hgvsp: ENSP00000408975.3:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.62G>T
  hgvsp: ENSP00000303214.7:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.62G>T
  hgvsp: ENSP00000410838.2:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-132G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.190G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.62G>T
  hgvsp: ENSP00000340820.5:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.62G>T
  hgvsp: ENSP00000460965.1:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.62G>T
  hgvsp: ENSP00000262410.5:p.Gly21Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly21Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-44039767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039767
    reference: chr 17
allele count: 2
allele frequency: 1.680785262874815e-5
allele num: 118992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.64G>A
  hgvsp: ENSP00000410838.2:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.192G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-130G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.64G>A
  hgvsp: ENSP00000334886.8:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.64G>A
  hgvsp: ENSP00000413056.2:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.64G>A
  hgvsp: ENSP00000340438.5:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.64G>A
  hgvsp: ENSP00000408975.3:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.64G>A
  hgvsp: ENSP00000340820.5:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.64G>A
  hgvsp: ENSP00000443028.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.64G>A
  hgvsp: ENSP00000460965.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.64G>A
  hgvsp: ENSP00000262410.5:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.64G>A
  hgvsp: ENSP00000303214.7:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.64G>A
  hgvsp: ENSP00000460048.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.64G>A
  hgvsp: ENSP00000458742.1:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.64G>A
  hgvsp: ENSP00000389250.3:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp22Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-44039783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039783
    reference: chr 17
allele count: 9
allele frequency: 7.58584649618179e-5
allele num: 118642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.80G>A
  hgvsp: ENSP00000460048.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.80G>A
  hgvsp: ENSP00000340820.5:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.80G>A
  hgvsp: ENSP00000408975.3:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.208G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.80G>A
  hgvsp: ENSP00000334886.8:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.80G>A
  hgvsp: ENSP00000410838.2:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.80G>A
  hgvsp: ENSP00000458742.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.80G>A
  hgvsp: ENSP00000413056.2:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-114G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.80G>A
  hgvsp: ENSP00000262410.5:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.80G>A
  hgvsp: ENSP00000443028.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.80G>A
  hgvsp: ENSP00000460965.1:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.80G>A
  hgvsp: ENSP00000303214.7:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.80G>A
  hgvsp: ENSP00000340438.5:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.80G>A
  hgvsp: ENSP00000389250.3:p.Gly27Glu
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-44039785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039785
    reference: chr 17
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.82G>A
  hgvsp: ENSP00000460048.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.82G>A
  hgvsp: ENSP00000340438.5:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.82G>A
  hgvsp: ENSP00000413056.2:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.82G>A
  hgvsp: ENSP00000262410.5:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.82G>A
  hgvsp: ENSP00000340820.5:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.210G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.82G>A
  hgvsp: ENSP00000460965.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.82G>A
  hgvsp: ENSP00000334886.8:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.82G>A
  hgvsp: ENSP00000458742.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.82G>A
  hgvsp: ENSP00000443028.1:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.82G>A
  hgvsp: ENSP00000408975.3:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.82G>A
  hgvsp: ENSP00000303214.7:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.82G>A
  hgvsp: ENSP00000410838.2:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.82G>A
  hgvsp: ENSP00000389250.3:p.Gly28Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-112G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly28Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-44039791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039791
    reference: chr 17
allele count: 8
allele frequency: 6.75607201972773e-5
allele num: 118412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.88A>G
  hgvsp: ENSP00000334886.8:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.88A>G
  hgvsp: ENSP00000408975.3:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-106A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.88A>G
  hgvsp: ENSP00000262410.5:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.88A>G
  hgvsp: ENSP00000460965.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.88A>G
  hgvsp: ENSP00000303214.7:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.88A>G
  hgvsp: ENSP00000410838.2:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.88A>G
  hgvsp: ENSP00000458742.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.88A>G
  hgvsp: ENSP00000340820.5:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.88A>G
  hgvsp: ENSP00000443028.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.88A>G
  hgvsp: ENSP00000340438.5:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.88A>G
  hgvsp: ENSP00000389250.3:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.88A>G
  hgvsp: ENSP00000460048.1:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.216A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.88A>G
  hgvsp: ENSP00000413056.2:p.Thr30Ala
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28419
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr30Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-44039792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039792
    reference: chr 17
allele count: 12
allele frequency: 1.013821770132811e-4
allele num: 118364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.89C>T
  hgvsp: ENSP00000303214.7:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.89C>T
  hgvsp: ENSP00000340438.5:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.89C>T
  hgvsp: ENSP00000460965.1:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.89C>T
  hgvsp: ENSP00000262410.5:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.89C>T
  hgvsp: ENSP00000460048.1:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.89C>T
  hgvsp: ENSP00000334886.8:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.89C>T
  hgvsp: ENSP00000410838.2:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.89C>T
  hgvsp: ENSP00000389250.3:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-105C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.89C>T
  hgvsp: ENSP00000413056.2:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.89C>T
  hgvsp: ENSP00000408975.3:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.89C>T
  hgvsp: ENSP00000443028.1:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.217C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.89C>T
  hgvsp: ENSP00000458742.1:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.89C>T
  hgvsp: ENSP00000340820.5:p.Thr30Ile
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28430
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr30Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-44039811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039811
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039811
    reference: chr 17
allele count: 3
allele frequency: 2.552192333214231e-5
allele num: 117546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-86G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.108G>T
  hgvsp: ENSP00000458742.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.108G>T
  hgvsp: ENSP00000334886.8:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.108G>T
  hgvsp: ENSP00000408975.3:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.108G>T
  hgvsp: ENSP00000460048.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.108G>T
  hgvsp: ENSP00000303214.7:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.108G>T
  hgvsp: ENSP00000389250.3:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.108G>T
  hgvsp: ENSP00000413056.2:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.108G>T
  hgvsp: ENSP00000262410.5:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.108G>T
  hgvsp: ENSP00000410838.2:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.108G>T
  hgvsp: ENSP00000340820.5:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.108G>T
  hgvsp: ENSP00000340438.5:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.108G>T
  hgvsp: ENSP00000443028.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.236G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.108G>T
  hgvsp: ENSP00000460965.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu36Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-44039819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039819
    reference: chr 17
allele count: 3
allele frequency: 2.567921524318217e-5
allele num: 116826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.116C>T
  hgvsp: ENSP00000303214.7:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.116C>T
  hgvsp: ENSP00000389250.3:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.116C>T
  hgvsp: ENSP00000458742.1:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.116C>T
  hgvsp: ENSP00000340820.5:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.116C>T
  hgvsp: ENSP00000408975.3:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.116C>T
  hgvsp: ENSP00000413056.2:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.116C>T
  hgvsp: ENSP00000334886.8:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.116C>T
  hgvsp: ENSP00000410838.2:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-78C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.116C>T
  hgvsp: ENSP00000460965.1:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.116C>T
  hgvsp: ENSP00000443028.1:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.244C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.116C>T
  hgvsp: ENSP00000262410.5:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.116C>T
  hgvsp: ENSP00000460048.1:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.116C>T
  hgvsp: ENSP00000340438.5:p.Thr39Met
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-44039820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039820
    reference: chr 17
allele count: 250
allele frequency: 2.140997533570842e-3
allele num: 116768
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.117G>A
  hgvsp: ENST00000262410.5:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.117G>A
  hgvsp: ENST00000415613.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.117G>A
  hgvsp: ENST00000446361.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.117G>A
  hgvsp: ENST00000351559.5:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.117G>A
  hgvsp: ENST00000420682.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.117G>A
  hgvsp: ENST00000571987.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-77G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.117G>A
  hgvsp: ENST00000535772.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.117G>A
  hgvsp: ENST00000334239.8:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.117G>A
  hgvsp: ENST00000571311.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.117G>A
  hgvsp: ENST00000574436.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.117G>A
  hgvsp: ENST00000344290.5:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.245G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.117G>A
  hgvsp: ENST00000431008.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.117G>A
  hgvsp: ENST00000340799.5:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr39Thr
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-44039823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039823
    reference: chr 17
allele count: 3
allele frequency: 2.574179265844073e-5
allele num: 116542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.120C>T
  hgvsp: ENST00000571311.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.120C>T
  hgvsp: ENST00000446361.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-74C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.120C>T
  hgvsp: ENST00000334239.8:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.120C>T
  hgvsp: ENST00000574436.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.120C>T
  hgvsp: ENST00000535772.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.120C>T
  hgvsp: ENST00000571987.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.120C>T
  hgvsp: ENST00000262410.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.120C>T
  hgvsp: ENST00000415613.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.120C>T
  hgvsp: ENST00000420682.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.120C>T
  hgvsp: ENST00000431008.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.120C>T
  hgvsp: ENST00000351559.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.248C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.120C>T
  hgvsp: ENST00000340799.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.120C>T
  hgvsp: ENST00000344290.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp40Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-44039824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039824
    reference: chr 17
allele count: 6
allele frequency: 5.152337443753649e-5
allele num: 116452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.249G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.121G>A
  hgvsp: ENSP00000460965.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.121G>A
  hgvsp: ENSP00000389250.3:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.121G>A
  hgvsp: ENSP00000334886.8:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.121G>A
  hgvsp: ENSP00000443028.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.121G>A
  hgvsp: ENSP00000413056.2:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.121G>A
  hgvsp: ENSP00000340438.5:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.121G>A
  hgvsp: ENSP00000340820.5:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.121G>A
  hgvsp: ENSP00000460048.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.121G>A
  hgvsp: ENSP00000262410.5:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.121G>A
  hgvsp: ENSP00000410838.2:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-73G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.121G>A
  hgvsp: ENSP00000408975.3:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.121G>A
  hgvsp: ENSP00000303214.7:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.121G>A
  hgvsp: ENSP00000458742.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala41Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-44039845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039845
    reference: chr 17
allele count: 1
allele frequency: 8.678144959733408e-6
allele num: 115232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+9A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-44039846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039846
    reference: chr 17
allele count: 1
allele frequency: 8.685984295740394e-6
allele num: 115128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+10C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-44039852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039852
    reference: chr 17
allele count: 2
allele frequency: 1.737166681143056e-5
allele num: 115130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+16T>C
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-44039855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039855
    reference: chr 17
allele count: 2
allele frequency: 1.740008004036819e-5
allele num: 114942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+19A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-44039865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039865
    reference: chr 17
allele count: 1
allele frequency: 8.761324011284586e-6
allele num: 114138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+29C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-44039881-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039881
    reference: chr 17
allele count: 3
allele frequency: 2.656889313991179e-5
allele num: 112914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+45A>C
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-44039885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039885
    reference: chr 17
allele count: 2
allele frequency: 1.783866709479468e-5
allele num: 112116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+49G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-44039885-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44039885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44039885
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 112116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.261+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-61+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.133+49G>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-44049177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049177
    reference: chr 17
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6564G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6564G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-48G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6564G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-44049178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049178
    reference: chr 17
allele count: 3
allele frequency: 2.551714752313555e-5
allele num: 117568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6563C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-47C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6563C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6563C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-47C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-44049179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049179
    reference: chr 17
allele count: 7
allele frequency: 5.944697329981656e-5
allele num: 117752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6562G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6562G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-46G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6562G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-44049189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049189
    reference: chr 17
allele count: 15
allele frequency: 1.263966833510289e-4
allele num: 118674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6552G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6552G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6552G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-36G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-36G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25601
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-44049193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049193
    reference: chr 17
allele count: 3
allele frequency: 2.518172813806302e-5
allele num: 119134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6548A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6548A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-32A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6548A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-44049195-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049195
    reference: chr 17
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6546C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6546C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6546C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-30C>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-44049195-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049195
    reference: chr 17
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6546C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6546C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6546C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-30C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-30C>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

17-44049196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049196
    reference: chr 17
allele count: 7
allele frequency: 5.860683188211654e-5
allele num: 119440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6545G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-29G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6545G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6545G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-44049200-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049200
    reference: chr 17
allele count: 1
allele frequency: 8.345155637152633e-6
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6541T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6541T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-25T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6541T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-25T>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-44049204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049204
    reference: chr 17
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6537G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6537G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6537G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-21G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-44049211-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049211
    reference: chr 17
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6530T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6530T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6530T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-14T>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-44049214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049214
    reference: chr 17
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6527A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6527A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6527A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134-11A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-44049225-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049225
    reference: chr 17
allele count: 4
allele frequency: 3.311093819843385e-5
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.134A>T
  hgvsp: ENSP00000413056.2:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.134A>T
  hgvsp: ENSP00000262410.5:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.134A>T
  hgvsp: ENSP00000410838.2:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.134A>T
  hgvsp: ENSP00000389250.3:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6516A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.134A>T
  hgvsp: ENSP00000458742.1:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.134A>T
  hgvsp: ENSP00000443028.1:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.134A>T
  hgvsp: ENSP00000340438.5:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-60A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.134A>T
  hgvsp: ENSP00000303214.7:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6516A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*89A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6516A>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.134A>T
  hgvsp: ENSP00000460965.1:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.134A>T
  hgvsp: ENSP00000340820.5:p.Glu45Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu45Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

17-44049230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049230
    reference: chr 17
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.139C>T
  hgvsp: ENSP00000458742.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.139C>T
  hgvsp: ENSP00000262410.5:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.139C>T
  hgvsp: ENSP00000340820.5:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.139C>T
  hgvsp: ENSP00000413056.2:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.139C>T
  hgvsp: ENSP00000443028.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.139C>T
  hgvsp: ENSP00000340438.5:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6511C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.139C>T
  hgvsp: ENSP00000460965.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.139C>T
  hgvsp: ENSP00000389250.3:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.139C>T
  hgvsp: ENSP00000303214.7:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6511C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.139C>T
  hgvsp: ENSP00000410838.2:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6511C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-55C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro47Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-44049233-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049233
    reference: chr 17
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.142C>G
  hgvsp: ENSP00000460965.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.142C>G
  hgvsp: ENSP00000413056.2:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.142C>G
  hgvsp: ENSP00000303214.7:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-52C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6508C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.142C>G
  hgvsp: ENSP00000458742.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.142C>G
  hgvsp: ENSP00000443028.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.142C>G
  hgvsp: ENSP00000340438.5:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*97C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.142C>G
  hgvsp: ENSP00000389250.3:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.142C>G
  hgvsp: ENSP00000340820.5:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6508C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6508C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.142C>G
  hgvsp: ENSP00000410838.2:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.142C>G
  hgvsp: ENSP00000262410.5:p.Leu48Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu48Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-44049245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049245
    reference: chr 17
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.154A>G
  hgvsp: ENSP00000460965.1:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.154A>G
  hgvsp: ENSP00000413056.2:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.154A>G
  hgvsp: ENSP00000389250.3:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.154A>G
  hgvsp: ENSP00000458742.1:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.154A>G
  hgvsp: ENSP00000340438.5:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.154A>G
  hgvsp: ENSP00000443028.1:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6496A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.154A>G
  hgvsp: ENSP00000340820.5:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.154A>G
  hgvsp: ENSP00000303214.7:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.154A>G
  hgvsp: ENSP00000262410.5:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.154A>G
  hgvsp: ENSP00000410838.2:p.Thr52Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6496A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*109A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-40A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6496A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr52Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-44049253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049253
    reference: chr 17
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.162C>T
  hgvsp: ENST00000351559.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.162C>T
  hgvsp: ENST00000535772.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.162C>T
  hgvsp: ENST00000415613.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.162C>T
  hgvsp: ENST00000262410.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.162C>T
  hgvsp: ENST00000344290.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-32C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.162C>T
  hgvsp: ENST00000340799.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.162C>T
  hgvsp: ENST00000574436.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.162C>T
  hgvsp: ENST00000420682.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6488C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.162C>T
  hgvsp: ENST00000431008.3:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6488C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6488C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.162C>T
  hgvsp: ENST00000571987.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp54Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

17-44049267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049267
    reference: chr 17
allele count: 28
allele frequency: 2.314087836162581e-4
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.176C>T
  hgvsp: ENSP00000458742.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.176C>T
  hgvsp: ENSP00000262410.5:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6474C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.176C>T
  hgvsp: ENSP00000340820.5:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.176C>T
  hgvsp: ENSP00000443028.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.176C>T
  hgvsp: ENSP00000410838.2:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.176C>T
  hgvsp: ENSP00000460965.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.176C>T
  hgvsp: ENSP00000303214.7:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.176C>T
  hgvsp: ENSP00000413056.2:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.176C>T
  hgvsp: ENSP00000389250.3:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.176C>T
  hgvsp: ENSP00000340438.5:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*131C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6474C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6474C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-18C>T
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro59Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-44049268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049268
    reference: chr 17
allele count: 8
allele frequency: 6.611570247933885e-5
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*132G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.177G>A
  hgvsp: ENST00000415613.2:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.177G>A
  hgvsp: ENST00000262410.5:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.177G>A
  hgvsp: ENST00000535772.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.177G>A
  hgvsp: ENST00000351559.5:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6473G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.177G>A
  hgvsp: ENST00000344290.5:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.177G>A
  hgvsp: ENST00000420682.2:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.177G>A
  hgvsp: ENST00000340799.5:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.177G>A
  hgvsp: ENST00000431008.3:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.177G>A
  hgvsp: ENST00000571987.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.177G>A
  hgvsp: ENST00000574436.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6473G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6473G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro59Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-44049270-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049270
    reference: chr 17
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.179G>T
  hgvsp: ENSP00000413056.2:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.179G>T
  hgvsp: ENSP00000460965.1:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6471G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.179G>T
  hgvsp: ENSP00000458742.1:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.179G>T
  hgvsp: ENSP00000340820.5:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.179G>T
  hgvsp: ENSP00000303214.7:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.179G>T
  hgvsp: ENSP00000340438.5:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6471G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6471G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.179G>T
  hgvsp: ENSP00000389250.3:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.179G>T
  hgvsp: ENSP00000410838.2:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.179G>T
  hgvsp: ENSP00000443028.1:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*134G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.-15G>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.179G>T
  hgvsp: ENSP00000262410.5:p.Gly60Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly60Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-44049291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049291
    reference: chr 17
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.200A>G
  hgvsp: ENSP00000389250.3:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6450A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.200A>G
  hgvsp: ENSP00000340438.5:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.200A>G
  hgvsp: ENSP00000443028.1:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.200A>G
  hgvsp: ENSP00000303214.7:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.200A>G
  hgvsp: ENSP00000340820.5:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.200A>G
  hgvsp: ENSP00000460965.1:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.200A>G
  hgvsp: ENSP00000410838.2:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*155A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.200A>G
  hgvsp: ENSP00000262410.5:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.200A>G
  hgvsp: ENSP00000413056.2:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.7A>G
  hgvsp: ENSP00000302706.6:p.Arg3Gly
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.200A>G
  hgvsp: ENSP00000458742.1:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6450A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6450A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys67Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

17-44049296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049296
    reference: chr 17
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.205A>G
  hgvsp: ENSP00000410838.2:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.205A>G
  hgvsp: ENSP00000458742.1:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6445A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.205A>G
  hgvsp: ENSP00000340820.5:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6445A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.205A>G
  hgvsp: ENSP00000443028.1:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.205A>G
  hgvsp: ENSP00000340438.5:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.205A>G
  hgvsp: ENSP00000389250.3:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.205A>G
  hgvsp: ENSP00000413056.2:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.205A>G
  hgvsp: ENSP00000303214.7:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*160A>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.12A>G
  hgvsp: ENST00000347967.5:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.205A>G
  hgvsp: ENSP00000262410.5:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.205A>G
  hgvsp: ENSP00000460965.1:p.Thr69Ala
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6445A>G
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr69Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-44049303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049303
    reference: chr 17
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.212C>G
  hgvsp: ENSP00000340438.5:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.212C>G
  hgvsp: ENSP00000458742.1:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.212C>G
  hgvsp: ENSP00000410838.2:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.212C>G
  hgvsp: ENSP00000460965.1:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6438C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.19C>G
  hgvsp: ENSP00000302706.6:p.Gln7Glu
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*167C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.212C>G
  hgvsp: ENSP00000340820.5:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.212C>G
  hgvsp: ENSP00000303214.7:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.212C>G
  hgvsp: ENSP00000389250.3:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.212C>G
  hgvsp: ENSP00000262410.5:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6438C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6438C>G
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.212C>G
  hgvsp: ENSP00000443028.1:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.212C>G
  hgvsp: ENSP00000413056.2:p.Thr71Arg
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr71Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-44049306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049306
    reference: chr 17
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.215C>T
  hgvsp: ENSP00000410838.2:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.215C>T
  hgvsp: ENSP00000389250.3:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*170C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.215C>T
  hgvsp: ENSP00000340820.5:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.215C>T
  hgvsp: ENSP00000262410.5:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.215C>T
  hgvsp: ENSP00000458742.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.215C>T
  hgvsp: ENSP00000413056.2:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6435C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.22C>T
  hgvsp: ENSP00000302706.6:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6435C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.215C>T
  hgvsp: ENSP00000443028.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.215C>T
  hgvsp: ENSP00000303214.7:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6435C>T
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.215C>T
  hgvsp: ENSP00000460965.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.215C>T
  hgvsp: ENSP00000340438.5:p.Ala72Val
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala72Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-44049307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049307
    reference: chr 17
allele count: 3
allele frequency: 2.497336174746936e-5
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.216G>A
  hgvsp: ENST00000344290.5:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.216G>A
  hgvsp: ENST00000351559.5:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.216G>A
  hgvsp: ENST00000262410.5:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.216G>A
  hgvsp: ENST00000431008.3:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.23G>A
  hgvsp: ENSP00000302706.6:p.Arg8Gln
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.216G>A
  hgvsp: ENST00000535772.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.216G>A
  hgvsp: ENST00000571987.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.216G>A
  hgvsp: ENST00000420682.2:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.216G>A
  hgvsp: ENST00000574436.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.216G>A
  hgvsp: ENST00000415613.2:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6434G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6434G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.216G>A
  hgvsp: ENST00000340799.5:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6434G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-44049312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049312
    reference: chr 17
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6429G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*175+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6429G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000302706
  ensembl transcript: ENST00000347967
  gene symbol: MAPT
  hgvsc: ENST00000347967.5:c.27+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000303214
  ensembl transcript: ENST00000351559
  gene symbol: MAPT
  hgvsc: ENST00000351559.5:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000413056
  ensembl transcript: ENST00000420682
  gene symbol: MAPT
  hgvsc: ENST00000420682.2:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.220+1G>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6429G>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.220+1G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-44049321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44049321
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 44049321
    reference: chr 17
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000410838
  ensembl transcript: ENST00000415613
  gene symbol: MAPT
  hgvsc: ENST00000415613.2:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460965
  ensembl transcript: ENST00000574436
  gene symbol: MAPT
  hgvsc: ENST00000574436.1:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000458742
  ensembl transcript: ENST00000571987
  gene symbol: MAPT
  hgvsc: ENST00000571987.1:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000408975
  ensembl transcript: ENST00000446361
  gene symbol: MAPT
  hgvsc: ENST00000446361.3:c.134-6420C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340438
  ensembl transcript: ENST00000340799
  gene symbol: MAPT
  hgvsc: ENST00000340799.5:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000443028
  ensembl transcript: ENST00000535772
  gene symbol: MAPT
  hgvsc: ENST00000535772.1:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000389250
  ensembl transcript: ENST00000431008
  gene symbol: MAPT
  hgvsc: ENST00000431008.3:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000262410
  ensembl transcript: ENST00000262410
  gene symbol: MAPT
  hgvsc: ENST00000262410.5:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl transcript: ENST00000570299
  gene symbol: MAPT
  hgvsc: ENST00000570299.1:n.262-6420C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000460048
  ensembl transcript: ENST00000571311
  gene symbol: MAPT
  hgvsc: ENST00000571311.1:c.*175+10C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000334886
  ensembl transcript: ENST00000334239
  gene symbol: MAPT
  hgvsc: ENST00000334239.8:c.134-6420C>A
  variant of: http://identifiers.org/hgnc/6893
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186868
  ensembl protein: ENSP00000340820
  ensembl transcript: ENST00000344290
  gene symbol: MAPT
  hgvsc: ENST00000344290.5:c.220+10C>A
  variant of: http://identifiers.org/hgnc/6893
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1036
bin: 7.25e1
variant carriers: 80

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 21

GenotypeQuality
all individuals: 499
bin: 5.75e1
variant carriers: 84

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 49

GenotypeQuality
all individuals: 645
bin: 3.75e1
variant carriers: 50

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 16

GenotypeQuality
all individuals: 3360
bin: 6.75e1
variant carriers: 137

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 42

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 114

GenotypeQuality
all individuals: 18218
bin: 9.75e1
variant carriers: 14503

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 77

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 93

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 124

GenotypeQuality
all individuals: 28426
bin: 6.25e1
variant carriers: 106

GenotypeQuality
all individuals: 1043
bin: 7.75e1
variant carriers: 131

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 78

Other
type: Population
allele count: 123
allele frequency: 1.436915887850467e-1
allele num: 856
num of homozygotes: 8

South Asian
type: Population
allele count: 1227
allele frequency: 7.85229745296301e-2
allele num: 15626
num of homozygotes: 53

European (Non-Finnish)
type: Population
allele count: 13870
allele frequency: 2.145796590241035e-1
allele num: 64638
num of homozygotes: 1459

East Asian
type: Population
allele count: 7
allele frequency: 8.235294117647059e-4
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 417
allele frequency: 4.279556650246306e-2
allele num: 9744
num of homozygotes: 14

European (Finnish)
type: Population
allele count: 417
allele frequency: 7.053450608930988e-2
allele num: 5912
num of homozygotes: 14

Latino
type: Population
allele count: 1249
allele frequency: 1.129703328509407e-1
allele num: 11056
num of homozygotes: 79

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.671688e6

QD
type: SiteQuality
SIO_000300: 1.585e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

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

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5383
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06569790612833e-5
allele num: 65238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.583081e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 9.238e0

VQSLOD
type: SiteQuality
SIO_000300: -1.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.558e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

GenotypeDepth
all individuals: 581
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4047
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1269
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14504
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5373
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38817
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1791
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.331545814875262e-4
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 1.610618e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

FS
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeDepth
all individuals: 913
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1393
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4089
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1213
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14606
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 136
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1543
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5376
bin: 9.75e1
variant carriers: 7

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

East Asian
type: Population
allele count: 6
allele frequency: 6.989748369058714e-4
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.863676653075696e-5
allele num: 11282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.612507e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeDepth
all individuals: 1384
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1530
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1206
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14798
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4026
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5373
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.541076487252125e-4
allele num: 11296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

FS
type: SiteQuality
SIO_000300: 2.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.613743e6

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeDepth
all individuals: 1361
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14822
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.808e0

VQSLOD
type: SiteQuality
SIO_000300: -1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.009e0

QD
type: SiteQuality
SIO_000300: 4.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.614569e6

GenotypeDepth
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15034
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4080
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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MQ
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DP
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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FS
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MQRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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ReadPosRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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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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European (Non-Finnish)
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African
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Latino
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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QD
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SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.61823e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65856
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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.255e0

FS
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.151e0

QD
type: SiteQuality
SIO_000300: 5.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.617424e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8598
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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: -2.8e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 3.307e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 1.61762e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

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

East Asian
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allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
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

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

African
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allele count: 23
allele frequency: 2.26066443876548e-3
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

FS
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SIO_000300: 1.788e0

VQSLOD
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SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 1.618272e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 5
allele frequency: 4.92029128124385e-4
allele num: 10162
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.037390274276342e-5
allele num: 65846
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.86706497386109e-4
allele num: 16068
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.74e-1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.215731566470123e-4
allele num: 65804
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 4.918355301987016e-4
allele num: 10166
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

MQ
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
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allele num: 16082
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African
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.039790862388668e-5
allele num: 65794
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.519341213649761e-5
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num of homozygotes: 0

African
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Other
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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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South Asian
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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FS
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DP
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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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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European (Non-Finnish)
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allele frequency: 4.562737642585552e-5
allele num: 65750
num of homozygotes: 0

QD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 1.612551e6

ReadPosRankSum
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MQ
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SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8586
num of homozygotes: 0

African
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European (Non-Finnish)
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allele num: 65736
num of homozygotes: 0

South Asian
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European (Finnish)
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Latino
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num of homozygotes: 0

Other
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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FS
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DP
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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MQRankSum
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QD
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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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East Asian
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South Asian
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allele frequency: 6.2375249500998e-5
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European (Non-Finnish)
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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: 6.937561942517344e-4
allele num: 10090
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Other
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InbreedingCoeff
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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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DP
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ReadPosRankSum
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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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GenotypeDepth
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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 frequency: 0.0e0
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South Asian
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allele num: 16036
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.682523172932791e-4
allele num: 65378
num of homozygotes: 0

QD
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MQ
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -8.0e-4

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.25517760763148e-4
allele num: 15934
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53997782431933e-5
allele num: 64936
num of homozygotes: 0

QD
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -8.0e-4

ClippingRankSum
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 3.82e-1

BaseQRankSum
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SIO_000300: -5.0e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64538
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South Asian
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allele count: 0
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Latino
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allele frequency: 8.999280057595392e-5
allele num: 11112
num of homozygotes: 0

African
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East Asian
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allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.1e-3

ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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QD
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.871480622722756e-2
allele num: 6038
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African
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allele num: 9906
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South Asian
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allele num: 15864
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East Asian
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Other
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allele count: 8
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allele num: 852
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European (Non-Finnish)
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allele count: 122
allele frequency: 1.891414219714117e-3
allele num: 64502
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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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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African
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European (Non-Finnish)
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East Asian
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Latino
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

South Asian
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allele count: 1
allele frequency: 6.318716036901302e-5
allele num: 15826
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.217745445501461e-5
allele num: 64332
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.011122345803842e-4
allele num: 9890
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.521433e6

QD
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SIO_000300: 1.352e1

BaseQRankSum
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SIO_000300: -1.081e0

ClippingRankSum
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SIO_000300: -6.840000000000001e-1

FS
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.1e-3

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.570450405176204e-5
allele num: 63676
num of homozygotes: 0

Other
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allele count: 0
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InbreedingCoeff
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SIO_000300: -1.3e-3

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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BaseQRankSum
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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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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 count: 1
allele frequency: 9.157509157509158e-5
allele num: 10920
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63634
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
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SIO_000300: -3.647e0

FS
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SIO_000300: 6.597e0

InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.791e0

MQ
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SIO_000300: 5.944e1

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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
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
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.571091908876669e-5
allele num: 63650
num of homozygotes: 0

FS
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SIO_000300: 1.324e0

MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.3e-3

ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63546
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European (Finnish)
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FS
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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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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European (Non-Finnish)
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South Asian
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 9.75e1
variant carriers: 4

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

South Asian
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allele frequency: 1.291655902867476e-4
allele num: 15484
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62444
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.210653753026634e-4
allele num: 8260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.925e0

InbreedingCoeff
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SIO_000300: -1.8e-3

ReadPosRankSum
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SIO_000300: 7.7e-2

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.65e0

MQRankSum
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SIO_000300: -3.86e-1

ClippingRankSum
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SIO_000300: -7.7e-2

VQSLOD
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DP
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SIO_000300: 1.338102e6

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612591111397794e-5
allele num: 62012
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
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InbreedingCoeff
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FS
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QD
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MQRankSum
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MQ
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ClippingRankSum
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DP
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SIO_000300: 1.33412e6

BaseQRankSum
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SIO_000300: -1.134e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
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SIO_000300: 1.23e1

DP
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SIO_000300: 1.33412e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
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SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.877840909090909e-5
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

DP
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SIO_000300: 1.837681e6

BaseQRankSum
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SIO_000300: -3.955e0

MQRankSum
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ReadPosRankSum
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QD
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SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.189e0

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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.100679048711668e-5
allele num: 64502
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

African
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allele count: 0
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Other
type: Population
allele count: 0
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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VQSLOD
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DP
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FS
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SIO_000300: 1.1282e1

MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -2.44e-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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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.856435643564356e-4
allele num: 16160
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.643819076808767e-5
allele num: 64602
num of homozygotes: 0

Latino
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allele num: 11278
num of homozygotes: 0

East Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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SIO_000300: -1.94e-1

DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6
allele frequency: 7.067137809187279e-4
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Latino
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allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

South Asian
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allele frequency: 4.314595660749507e-4
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535485059730369e-5
allele num: 65126
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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QD
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FS
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VQSLOD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.527043948324833e-5
allele num: 65486
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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: 1
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allele num: 65486
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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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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Other
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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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MQ
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FS
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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African
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MQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.996247e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
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SIO_000300: 1.01e0

VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

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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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 3.432e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -3.9e-2

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 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

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 frequency: 4.637143519591931e-4
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.806e0

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

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

Other
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African
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num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
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MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 4.96e0

DP
type: SiteQuality
SIO_000300: 2.018154e6

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 3.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28605
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5498
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
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GenotypeDepth
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39644
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.948e0

DP
type: SiteQuality
SIO_000300: 2.01883e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.224e0

GenotypeDepth
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28488
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5503
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 293
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4011
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 202
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 186
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 161
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variant carriers: 4

GenotypeDepth
all individuals: 148
bin: 6.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 1897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 7239
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7071
bin: 9.75e1
variant carriers: 28

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

Latino
type: Population
allele count: 27
allele frequency: 2.33523611831863e-3
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.019777e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeDepth
all individuals: 175
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4013
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variant carriers: 4

GenotypeDepth
all individuals: 200
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
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variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 167
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variant carriers: 0

GenotypeDepth
all individuals: 329
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variant carriers: 0

GenotypeDepth
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1989
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variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7047
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variant carriers: 8

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39616
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.824392126592049e-4
allele num: 10364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 2.019423e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

FS
type: SiteQuality
SIO_000300: 2.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5517
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
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variant carriers: 1

GenotypeDepth
all individuals: 329
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variant carriers: 0

GenotypeDepth
all individuals: 269
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variant carriers: 0

GenotypeDepth
all individuals: 18190
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variant carriers: 0

GenotypeDepth
all individuals: 142
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variant carriers: 0

GenotypeDepth
all individuals: 167
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variant carriers: 0

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 1993
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 7041
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variant carriers: 1

GenotypeQuality
all individuals: 1241
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 7241
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variant carriers: 0

GenotypeQuality
all individuals: 1893
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variant carriers: 0

GenotypeQuality
all individuals: 39620
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

QD
type: SiteQuality
SIO_000300: 1.078e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 5.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 2.01874e6

GenotypeDepth
all individuals: 445
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
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variant carriers: 0

GenotypeDepth
all individuals: 329
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variant carriers: 0

GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeDepth
all individuals: 200
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variant carriers: 0

GenotypeDepth
all individuals: 251
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variant carriers: 0

GenotypeDepth
all individuals: 156
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GenotypeDepth
all individuals: 138
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variant carriers: 0

GenotypeDepth
all individuals: 269
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7043
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variant carriers: 1

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 630
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 128
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GenotypeQuality
all individuals: 39185
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 1231
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 7178
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GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 2.014179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

FS
type: SiteQuality
SIO_000300: 1.484e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeDepth
all individuals: 251
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 624
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variant carriers: 0

GenotypeDepth
all individuals: 200
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variant carriers: 0

GenotypeDepth
all individuals: 585
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GenotypeDepth
all individuals: 18170
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variant carriers: 0

GenotypeDepth
all individuals: 289
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GenotypeDepth
all individuals: 4010
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GenotypeDepth
all individuals: 183
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GenotypeDepth
all individuals: 5510
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variant carriers: 0

GenotypeDepth
all individuals: 157
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variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 630
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GenotypeQuality
all individuals: 38873
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GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 7043
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1971
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7150
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GenotypeQuality
all individuals: 1227
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017865765330758e-5
allele num: 66272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.011472e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
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SIO_000300: 2.68e0

QD
type: SiteQuality
SIO_000300: 8.4e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

African
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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SIO_000300: -6.45e-1

ClippingRankSum
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SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.002037e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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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 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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
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SIO_000300: -2.039e0

BaseQRankSum
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SIO_000300: 7.67e-1

DP
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SIO_000300: 1.997561e6

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.837e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

FS
type: SiteQuality
SIO_000300: 3.398e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

African
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.445e0

MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 5.964e1

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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Latino
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allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
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
allele num: 6516
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65908
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South Asian
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allele count: 0
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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MQ
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