2-9618488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618488
    reference: chr 2
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.317G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*64G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.211G>A
  hgvsp: ENSP00000419807.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.197G>A
  hgvsp: ENSP00000420532.1:p.Ser66Asn
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.272G>A
  hgvsp: ENSP00000417580.1:p.Ser91Asn
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.504G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*3G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.222G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser91Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-9618499-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618499
    reference: chr 2
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208G>C
  hgvsp: ENSP00000420532.1:p.Asp70His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283G>C
  hgvsp: ENSP00000417580.1:p.Asp95His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222G>C
  hgvsp: ENSP00000419807.1:p.Asp75His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp95His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-9618508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618508
    reference: chr 2
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+9A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+9A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-9618514-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618514
    reference: chr 2
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+15G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+15G>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-9618522-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618522
    reference: chr 2
allele count: 1
allele frequency: 8.387150884844418e-6
allele num: 119230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+23T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+23T>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-9618527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618527
    reference: chr 2
allele count: 2
allele frequency: 1.680333378142224e-5
allele num: 119024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+28C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+28C>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-9618536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618536
    reference: chr 2
allele count: 36
allele frequency: 3.034031722487232e-4
allele num: 118654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+37A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+37A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-9618538-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618538
    reference: chr 2
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+39T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+39T>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  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: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-9618544-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618542
    reference: chr 2
allele count: 3
allele frequency: 2.535282684019268e-5
allele num: 118330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+47_*75+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+47_-57+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+47_-57+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+47_*14+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+47_222+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+47_-57+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+47_-57+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+47_208+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+47_-57+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+47_233+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+47_283+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+47_328+48delAT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+47_515+48delAT
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: TTA
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-9618546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9618546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9618546
    reference: chr 2
allele count: 6
allele frequency: 5.082075519642222e-5
allele num: 118062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.208+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-57+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.283+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-57+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-57+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*75+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-57+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.328+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-57+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*14+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.233+47A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.515+47A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-9621364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621364
    reference: chr 2
allele count: 2
allele frequency: 1.67627732332037e-5
allele num: 119312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-51T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-51T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-9621370-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621370
    reference: chr 2
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-45A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-45A>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-9621371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621371
    reference: chr 2
allele count: 2
allele frequency: 1.67596829067994e-5
allele num: 119334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-44T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-44T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

2-9621385-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621384
    reference: chr 2
allele count: 4
allele frequency: 3.34459346466437e-5
allele num: 119596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-29delT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-29delT
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CT
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

2-9621399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621399
    reference: chr 2
allele count: 2
allele frequency: 1.663644379377464e-5
allele num: 120218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-16T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-16T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-9621406-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621404
    reference: chr 2
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-8_234-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-8_284-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-8_-56-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-8_223-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-8_*76-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-8_-56-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-8_-56-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-8_*15-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-8_329-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-8_-56-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-8_34-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-8_-56-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-8_209-7delTT
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-8_516-7delTT
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.284-8_284-7delTT
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: CTT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-9621408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621408
    reference: chr 2
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.34-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-56-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-56-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.209-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.284-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.223-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*15-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.234-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-56-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-56-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.329-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*76-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-56-7T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.516-7T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.284-7T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-9621416-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621416
    reference: chr 2
allele count: 29
allele frequency: 2.405042295571405e-4
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.517T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*77T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*16T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.224T>A
  hgvsp: ENSP00000419807.1:p.Asp75Glu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.210T>A
  hgvsp: ENSP00000420532.1:p.Asp70Glu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.35T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.235T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.4T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-55T>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.285T>A
  hgvsp: ENSP00000417580.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.330T>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp95Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-9621429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621429
    reference: chr 2
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.237C>T
  hgvsp: ENSP00000419807.1:p.Gln80Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.48C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.298C>T
  hgvsp: ENSP00000417580.1:p.Gln100Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*29C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.223C>T
  hgvsp: ENSP00000420532.1:p.Gln75Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.530C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.248C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.343C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.17C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln100Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-9621431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621431
    reference: chr 2
allele count: 4
allele frequency: 3.314660744472803e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.225G>T
  hgvsp: ENSP00000420532.1:p.Gln75His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.50G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.19G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.345G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.532G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.300G>T
  hgvsp: ENSP00000417580.1:p.Gln100His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.239G>T
  hgvsp: ENSP00000419807.1:p.Gln80His
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*92G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*31G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.250G>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln100His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-9621442-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621442
    reference: chr 2
allele count: 54
allele frequency: 4.473383368954719e-4
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.311T>G
  hgvsp: ENSP00000417580.1:p.Leu104Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*42T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.236T>G
  hgvsp: ENSP00000420532.1:p.Leu79Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-29T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.30T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-29T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.61T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-29T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.250T>G
  hgvsp: ENSP00000419807.1:p.Leu84Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-29T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.543T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*103T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-29T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.356T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.261T>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Leu104Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-9621442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621442
    reference: chr 2
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*42T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.261T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.61T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.250T>C
  hgvsp: ENSP00000419807.1:p.Leu84Pro
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.311T>C
  hgvsp: ENSP00000417580.1:p.Leu104Pro
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*103T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.30T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.356T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.236T>C
  hgvsp: ENSP00000420532.1:p.Leu79Pro
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.543T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu104Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-9621443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621443
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.31G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.251G>A
  hgvsp: ENST00000481367.1:c.251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.262G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.237G>A
  hgvsp: ENST00000481688.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.357G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.312G>A
  hgvsp: ENST00000497473.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*43G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.62G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.544G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu104Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-9621452-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621452
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.321C>A
  hgvsp: ENSP00000417580.1:p.Tyr107Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*113C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*52C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.40C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.366C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.271C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.260C>A
  hgvsp: ENSP00000419807.1:p.Tyr87Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.246C>A
  hgvsp: ENSP00000420532.1:p.Tyr82Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.71C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.553C>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr107Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-9621452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621452
    reference: chr 2
allele count: 9
allele frequency: 7.454527382963921e-5
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.271C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.321C>T
  hgvsp: ENST00000497473.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.246C>T
  hgvsp: ENST00000481688.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.260C>T
  hgvsp: ENST00000481367.1:c.260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.40C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*52C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.71C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.366C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.553C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr107Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-9621453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621453
    reference: chr 2
allele count: 9
allele frequency: 7.454280413464087e-5
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*53G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.247G>A
  hgvsp: ENSP00000420532.1:p.Ala83Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.261G>A
  hgvsp: ENSP00000419807.1:p.Ala88Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.272G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.554G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.72G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.322G>A
  hgvsp: ENSP00000417580.1:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.41G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.367G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala108Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-9621453-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621453
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.261G>T
  hgvsp: ENSP00000419807.1:p.Ala88Ser
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.41G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*114G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.247G>T
  hgvsp: ENSP00000420532.1:p.Ala83Ser
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.272G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.322G>T
  hgvsp: ENSP00000417580.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.367G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*53G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.72G>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.554G>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala108Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-9621457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621457
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.558C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.251C>T
  hgvsp: ENSP00000420532.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.265C>T
  hgvsp: ENSP00000419807.1:p.Ala89Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.326C>T
  hgvsp: ENSP00000417580.1:p.Ala109Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.76C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*57C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.276C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.45C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.371C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala109Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-9621458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621458
    reference: chr 2
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*58G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.46G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.277G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.252G>A
  hgvsp: ENST00000481688.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.559G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*119G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.372G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.266G>A
  hgvsp: ENST00000481367.1:c.266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.77G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.327G>A
  hgvsp: ENST00000497473.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala109Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-9621464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621464
    reference: chr 2
allele count: 6
allele frequency: 4.969520275642725e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.83A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*64A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.283A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.272A>G
  hgvsp: ENST00000481367.1:c.272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.52A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.333A>G
  hgvsp: ENST00000497473.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.258A>G
  hgvsp: ENST00000481688.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.565A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.378A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*125A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu111Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

2-9621467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621467
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.261G>C
  hgvsp: ENSP00000420532.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*128G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.275G>C
  hgvsp: ENSP00000419807.1:p.Lys92Asn
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.55G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.86G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.286G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.381G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.568G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*67G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.336G>C
  hgvsp: ENSP00000417580.1:p.Lys112Asn
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys112Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-9621471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621471
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*71A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.265A>G
  hgvsp: ENSP00000420532.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.1A>G
  hgvsp: ENSP00000418492.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.59A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.340A>G
  hgvsp: ENSP00000417580.1:p.Met114Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*132A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.1A>G
  hgvsp: ENSP00000419224.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.90A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.1A>G
  hgvsp: ENSP00000420562.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.279A>G
  hgvsp: ENSP00000419807.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.290A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.1A>G
  hgvsp: ENSP00000419110.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.1A>G
  hgvsp: ENSP00000438534.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.385A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.572A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-9621478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621478
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.8A>G
  hgvsp: ENSP00000420562.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.8A>G
  hgvsp: ENSP00000419224.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.97A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.66A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.8A>G
  hgvsp: ENSP00000418492.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.8A>G
  hgvsp: ENSP00000438534.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.347A>G
  hgvsp: ENSP00000417580.1:p.Gln116Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.8A>G
  hgvsp: ENSP00000419110.1:p.Gln3Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*78A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*139A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.272A>G
  hgvsp: ENSP00000420532.1:p.Gln91Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.286A>G
  hgvsp: ENSP00000419807.1:p.Gln96Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.297A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.392A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.579A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln116Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-9621479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621479
    reference: chr 2
allele count: 539
allele frequency: 4.464507578895055e-3
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.9G>A
  hgvsp: ENST00000545602.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.393G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*79G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.287G>A
  hgvsp: ENST00000481367.1:c.287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.580G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*140G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.9G>A
  hgvsp: ENST00000496603.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.9G>A
  hgvsp: ENST00000470914.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.348G>A
  hgvsp: ENST00000497473.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.9G>A
  hgvsp: ENST00000495797.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.298G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.98G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.9G>A
  hgvsp: ENST00000482918.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.273G>A
  hgvsp: ENST00000481688.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.67G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln116Gln
num of homozygotes: 5
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-9621482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621482
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.12C>T
  hgvsp: ENST00000470914.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.290C>T
  hgvsp: ENST00000481367.1:c.290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*82C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.276C>T
  hgvsp: ENST00000481688.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.583C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.101C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.12C>T
  hgvsp: ENST00000496603.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.396C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.12C>T
  hgvsp: ENST00000545602.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.301C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.70C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.12C>T
  hgvsp: ENST00000495797.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.351C>T
  hgvsp: ENST00000497473.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.12C>T
  hgvsp: ENST00000482918.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr117Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-9621491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621491
    reference: chr 2
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.110C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.592C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.405C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.21C>T
  hgvsp: ENST00000470914.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.299C>T
  hgvsp: ENST00000481367.1:c.299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.21C>T
  hgvsp: ENST00000496603.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.79C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.360C>T
  hgvsp: ENST00000497473.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.21C>T
  hgvsp: ENST00000495797.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.21C>T
  hgvsp: ENST00000545602.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.310C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*91C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.285C>T
  hgvsp: ENST00000481688.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.21C>T
  hgvsp: ENST00000482918.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser120Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-9621492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621492
    reference: chr 2
allele count: 15
allele frequency: 1.242730029328429e-4
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*153G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.22G>A
  hgvsp: ENSP00000418492.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.22G>A
  hgvsp: ENSP00000420562.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.80G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.300G>A
  hgvsp: ENSP00000419807.1:p.Val101Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.286G>A
  hgvsp: ENSP00000420532.1:p.Val96Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.22G>A
  hgvsp: ENSP00000438534.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.22G>A
  hgvsp: ENSP00000419224.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.22G>A
  hgvsp: ENSP00000419110.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.111G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.406G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.311G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.593G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.361G>A
  hgvsp: ENSP00000417580.1:p.Val121Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*92G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val121Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

2-9621493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621493
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.23T>C
  hgvsp: ENSP00000420562.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.301T>C
  hgvsp: ENSP00000419807.1:p.Val101Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.112T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.594T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.23T>C
  hgvsp: ENSP00000418492.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.362T>C
  hgvsp: ENSP00000417580.1:p.Val121Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.287T>C
  hgvsp: ENSP00000420532.1:p.Val96Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.407T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.23T>C
  hgvsp: ENSP00000438534.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.23T>C
  hgvsp: ENSP00000419110.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.23T>C
  hgvsp: ENSP00000419224.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.312T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*154T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.81T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*93T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val121Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-9621500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621500
    reference: chr 2
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*100C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.308C>G
  hgvsp: ENSP00000419807.1:p.Ile103Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.294C>G
  hgvsp: ENSP00000420532.1:p.Ile98Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.414C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*161C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.30C>G
  hgvsp: ENSP00000418492.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.30C>G
  hgvsp: ENSP00000438534.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.319C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.119C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.601C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.30C>G
  hgvsp: ENSP00000420562.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.30C>G
  hgvsp: ENSP00000419110.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.88C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.30C>G
  hgvsp: ENSP00000419224.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.369C>G
  hgvsp: ENSP00000417580.1:p.Ile123Met
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile123Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-9621501-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621501
    reference: chr 2
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.295C>A
  hgvsp: ENSP00000420532.1:p.Pro99Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.370C>A
  hgvsp: ENSP00000417580.1:p.Pro124Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.31C>A
  hgvsp: ENSP00000419110.1:p.Pro11Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.309C>A
  hgvsp: ENSP00000419807.1:p.Pro104Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*101C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.89C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.320C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.31C>A
  hgvsp: ENSP00000418492.1:p.Pro11Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.31C>A
  hgvsp: ENSP00000420562.1:p.Pro11Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.120C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.31C>A
  hgvsp: ENSP00000419224.1:p.Pro11Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.31C>A
  hgvsp: ENSP00000438534.1:p.Pro11Thr
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.415C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.602C>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*162C>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro124Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-9621510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621510
    reference: chr 2
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.329C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.129C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.424C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.40C>T
  hgvsp: ENSP00000438534.1:p.Arg14Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.304C>T
  hgvsp: ENSP00000420532.1:p.Arg102Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.40C>T
  hgvsp: ENSP00000419224.1:p.Arg14Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.379C>T
  hgvsp: ENSP00000417580.1:p.Arg127Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.40C>T
  hgvsp: ENSP00000419110.1:p.Arg14Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.40C>T
  hgvsp: ENSP00000420562.1:p.Arg14Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.318C>T
  hgvsp: ENSP00000419807.1:p.Arg107Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.98C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.611C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*171C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.40C>T
  hgvsp: ENSP00000418492.1:p.Arg14Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*110C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg127Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-9621515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621515
    reference: chr 2
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.309C>T
  hgvsp: ENST00000481688.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.384C>T
  hgvsp: ENST00000497473.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*115C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.334C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.45C>T
  hgvsp: ENST00000496603.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.45C>T
  hgvsp: ENST00000495797.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.45C>T
  hgvsp: ENST00000545602.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*176C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.103C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.45C>T
  hgvsp: ENST00000482918.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.616C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.134C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.45C>T
  hgvsp: ENST00000470914.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.323C>T
  hgvsp: ENST00000481367.1:c.323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.429C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val128Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-9621524-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621524
    reference: chr 2
allele count: 7
allele frequency: 5.808935802960898e-5
allele num: 120504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.54C>G
  hgvsp: ENSP00000419224.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.332C>G
  hgvsp: ENSP00000419807.1:p.Ile111Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.393C>G
  hgvsp: ENSP00000417580.1:p.Ile131Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.54C>G
  hgvsp: ENSP00000420562.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.438C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*124C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.625C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.54C>G
  hgvsp: ENSP00000418492.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.318C>G
  hgvsp: ENSP00000420532.1:p.Ile106Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.143C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.54C>G
  hgvsp: ENSP00000419110.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.54C>G
  hgvsp: ENSP00000438534.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*185C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.112C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.343C>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile131Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-9621527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621527
    reference: chr 2
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.396G>A
  hgvsp: ENST00000497473.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.57G>A
  hgvsp: ENST00000545602.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.57G>A
  hgvsp: ENST00000470914.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*127G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.57G>A
  hgvsp: ENST00000496603.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.628G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.321G>A
  hgvsp: ENST00000481688.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.115G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.57G>A
  hgvsp: ENST00000495797.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.441G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.335G>A
  hgvsp: ENST00000481367.1:c.335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.146G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.57G>A
  hgvsp: ENST00000482918.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.346G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr132Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

2-9621530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621530
    reference: chr 2
allele count: 21
allele frequency: 1.743490967056323e-4
allele num: 120448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.60G>A
  hgvsp: ENST00000470914.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.60G>A
  hgvsp: ENST00000495797.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.118G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.349G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*191G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.338G>A
  hgvsp: ENST00000481367.1:c.338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.149G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.324G>A
  hgvsp: ENST00000481688.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.60G>A
  hgvsp: ENST00000496603.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*130G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.444G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.631G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.60G>A
  hgvsp: ENST00000545602.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.399G>A
  hgvsp: ENST00000497473.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.60G>A
  hgvsp: ENST00000482918.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro133Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-9621533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621533
    reference: chr 2
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.63C>T
  hgvsp: ENST00000495797.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.341C>T
  hgvsp: ENST00000481367.1:c.341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.63C>T
  hgvsp: ENST00000496603.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.352C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.63C>T
  hgvsp: ENST00000545602.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.121C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.634C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.63C>T
  hgvsp: ENST00000470914.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.152C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*194C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.63C>T
  hgvsp: ENST00000482918.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.327C>T
  hgvsp: ENST00000481688.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*133C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.402C>T
  hgvsp: ENST00000497473.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.447C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr134Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-9621534-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621532
    reference: chr 2
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.124_125delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.637_638delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*197_*198delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.66_67delAC
  hgvsp: ENSP00000419224.1:p.Cys24Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*136_*137delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.405_406delAC
  hgvsp: ENSP00000417580.1:p.Cys137Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.355_356delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.66_67delAC
  hgvsp: ENSP00000438534.1:p.Cys24Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.330_331delAC
  hgvsp: ENSP00000420532.1:p.Cys112Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.66_67delAC
  hgvsp: ENSP00000418492.1:p.Cys24Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.66_67delAC
  hgvsp: ENSP00000420562.1:p.Cys24Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.344_345delAC
  hgvsp: ENSP00000419807.1:p.Cys117Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.155_156delAC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.66_67delAC
  hgvsp: ENSP00000419110.1:p.Cys24Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.450_451delAC
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys137Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: CCA
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

2-9621544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621544
    reference: chr 2
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.74A>G
  hgvsp: ENSP00000419110.1:p.Glu25Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.363A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.74A>G
  hgvsp: ENSP00000418492.1:p.Glu25Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*205A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*144A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.132A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.74A>G
  hgvsp: ENSP00000420562.1:p.Glu25Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.163A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.74A>G
  hgvsp: ENSP00000419224.1:p.Glu25Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.74A>G
  hgvsp: ENSP00000438534.1:p.Glu25Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.413A>G
  hgvsp: ENSP00000417580.1:p.Glu138Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.338A>G
  hgvsp: ENSP00000420532.1:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.352A>G
  hgvsp: ENSP00000419807.1:p.Glu118Gly
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.458A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.645A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu138Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-9621551-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621551
    reference: chr 2
allele count: 1
allele frequency: 8.347802858287698e-6
allele num: 119792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.81C>G
  hgvsp: ENST00000545602.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.81C>G
  hgvsp: ENST00000495797.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.345C>G
  hgvsp: ENST00000481688.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.370C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.359C>G
  hgvsp: ENST00000481367.1:c.359C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.81C>G
  hgvsp: ENST00000496603.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.139C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.81C>G
  hgvsp: ENST00000470914.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.652C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*212C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.420C>G
  hgvsp: ENST00000497473.1:c.420C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.465C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*151C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.81C>G
  hgvsp: ENST00000482918.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.170C>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30102
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala140Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-9621560-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621559
    reference: chr 2
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*222delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.355delC
  hgvsp: ENSP00000420532.1:p.Gln119SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.91delC
  hgvsp: ENSP00000438534.1:p.Gln31SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.475delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.430delC
  hgvsp: ENSP00000417580.1:p.Gln144SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.91delC
  hgvsp: ENSP00000418492.1:p.Gln31SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.91delC
  hgvsp: ENSP00000419110.1:p.Gln31SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.180delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.91delC
  hgvsp: ENSP00000419224.1:p.Gln31SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.369delC
  hgvsp: ENSP00000419807.1:p.Gln124SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.91delC
  hgvsp: ENSP00000420562.1:p.Gln31SerfsTer9
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.662delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*161delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.380delC
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.149delC
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln144SerfsTer9
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: AC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-9621561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621561
    reference: chr 2
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.91C>T
  hgvsp: ENSP00000418492.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.430C>T
  hgvsp: ENSP00000417580.1:p.Gln144Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.380C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.91C>T
  hgvsp: ENSP00000419224.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.355C>T
  hgvsp: ENSP00000420532.1:p.Gln119Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.91C>T
  hgvsp: ENSP00000420562.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.369C>T
  hgvsp: ENSP00000419807.1:p.Gln124Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.149C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.180C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.662C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.91C>T
  hgvsp: ENSP00000419110.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.91C>T
  hgvsp: ENSP00000438534.1:p.Gln31Ter
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.475C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*161C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln144Ter
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-9621562-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621562
    reference: chr 2
allele count: 1
allele frequency: 8.404350091607416e-6
allele num: 118986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.356A>T
  hgvsp: ENSP00000420532.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.92A>T
  hgvsp: ENSP00000419224.1:p.Gln31Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.92A>T
  hgvsp: ENSP00000420562.1:p.Gln31Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.92A>T
  hgvsp: ENSP00000418492.1:p.Gln31Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*162A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.476A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.370A>T
  hgvsp: ENSP00000419807.1:p.Gln124Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.92A>T
  hgvsp: ENSP00000438534.1:p.Gln31Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.92A>T
  hgvsp: ENSP00000419110.1:p.Gln31Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.381A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.181A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.150A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.431A>T
  hgvsp: ENSP00000417580.1:p.Gln144Leu
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*223A>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.663A>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln144Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-9621563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621563
    reference: chr 2
allele count: 1
allele frequency: 8.405762991106703e-6
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.151G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.93G>A
  hgvsp: ENST00000496603.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.664G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.93G>A
  hgvsp: ENST00000470914.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.371G>A
  hgvsp: ENST00000481367.1:c.371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.93G>A
  hgvsp: ENST00000495797.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.432G>A
  hgvsp: ENST00000497473.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*163G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.93G>A
  hgvsp: ENST00000545602.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.182G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.357G>A
  hgvsp: ENST00000481688.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.93G>A
  hgvsp: ENST00000482918.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.382G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.477G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln144Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-9621574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621574
    reference: chr 2
allele count: 1
allele frequency: 8.511072905850511e-6
allele num: 117494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*174A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.104A>G
  hgvsp: ENSP00000418492.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.104A>G
  hgvsp: ENSP00000420562.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.368A>G
  hgvsp: ENSP00000420532.1:p.Gln123Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.104A>G
  hgvsp: ENSP00000419224.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.382A>G
  hgvsp: ENSP00000419807.1:p.Gln128Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.104A>G
  hgvsp: ENSP00000419110.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.443A>G
  hgvsp: ENSP00000417580.1:p.Gln148Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.162A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.193A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.393A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.488A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.104A>G
  hgvsp: ENSP00000438534.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*235A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.675A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln148Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-9621578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621578
    reference: chr 2
allele count: 1
allele frequency: 8.544087491455912e-6
allele num: 117040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+2T>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+2T>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.445+2T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/2-9621588-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621588
    reference: chr 2
allele count: 22
allele frequency: 1.935461167610937e-4
allele num: 113668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+12A>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+12A>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23770
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-9621599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621599
    reference: chr 2
allele count: 112
allele frequency: 9.879505319055097e-4
allele num: 113366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+23C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+23C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 14225
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18241
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-9621600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621600
    reference: chr 2
allele count: 4
allele frequency: 3.542268114273569e-5
allele num: 112922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+24G>A
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+24G>A
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

2-9621607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621607
    reference: chr 2
allele count: 4
allele frequency: 3.5698348951361e-5
allele num: 112050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+31C>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+31C>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

2-9621617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621617
    reference: chr 2
allele count: 5
allele frequency: 4.574900267174175e-5
allele num: 109292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+41A>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+41A>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-9621624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621624
    reference: chr 2
allele count: 1
allele frequency: 9.376465072667604e-6
allele num: 106650
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+48G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+48G>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-9621628-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9621628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9621628
    reference: chr 2
allele count: 6
allele frequency: 5.732849226065354e-5
allele num: 104660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.384+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.445+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*176+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.106+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.106+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.370+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*237+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.106+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.164+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.106+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.395+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.106+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.195+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.677+52G>C
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.490+52G>C
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17543
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17438
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

2-9624528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9624528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9624528
    reference: chr 2
allele count: 3
allele frequency: 2.513404825737265e-5
allele num: 119360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.385-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*238-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.446-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.491-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.371-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.107-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*177-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.196-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.396-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.165-33C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.678-33C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-9624536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9624536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9624536
    reference: chr 2
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*177-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.107-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.107-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.107-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.491-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.107-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.396-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.371-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.196-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.446-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.107-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.165-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.678-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.385-25C>T
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*238-25C>T
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

2-9624553-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9624553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 9624553
    reference: chr 2
allele count: 2280
allele frequency: 1.893970859430812e-2
allele num: 120382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000438534
  ensembl transcript: ENST00000545602
  gene symbol: IAH1
  hgvsc: ENST00000545602.1:c.107-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419224
  ensembl transcript: ENST00000470914
  gene symbol: IAH1
  hgvsc: ENST00000470914.1:c.107-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000418492
  ensembl transcript: ENST00000496603
  gene symbol: IAH1
  hgvsc: ENST00000496603.1:c.107-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000489468
  gene symbol: IAH1
  hgvsc: ENST00000489468.1:n.491-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420562
  ensembl transcript: ENST00000495797
  gene symbol: IAH1
  hgvsc: ENST00000495797.1:c.107-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000484826
  gene symbol: IAH1
  hgvsc: ENST00000484826.1:n.165-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419368
  ensembl transcript: ENST00000492223
  gene symbol: IAH1
  hgvsc: ENST00000492223.1:c.*238-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495050
  gene symbol: IAH1
  hgvsc: ENST00000495050.1:n.396-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000314400
  ensembl transcript: ENST00000351760
  gene symbol: IAH1
  hgvsc: ENST00000351760.7:c.*177-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000417580
  ensembl transcript: ENST00000497473
  gene symbol: IAH1
  hgvsc: ENST00000497473.1:c.446-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419110
  ensembl transcript: ENST00000482918
  gene symbol: IAH1
  hgvsc: ENST00000482918.1:c.107-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000495494
  gene symbol: IAH1
  hgvsc: ENST00000495494.1:n.678-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000420532
  ensembl transcript: ENST00000481688
  gene symbol: IAH1
  hgvsc: ENST00000481688.1:c.371-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl protein: ENSP00000419807
  ensembl transcript: ENST00000481367
  gene symbol: IAH1
  hgvsc: ENST00000481367.1:c.385-8T>G
  variant of: http://identifiers.org/hgnc/27696
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134330
  ensembl transcript: ENST00000487850
  gene symbol: IAH1
  hgvsc: ENST00000487850.1:n.196-8T>G
  variant of: http://identifiers.org/hgnc/27696
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 9.75e1
  variant carriers: 1373
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 15
hgvs: c.446-8T>G
num of homozygotes: 233
reference allele: T

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.824e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 1.494335e6

GenotypeDepth
all individuals: 720
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1081
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1951
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
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: 0.0e0
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African
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11566
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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Latino
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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DP
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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FS
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.484320557491289e-4
allele num: 8610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele 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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num of homozygotes: 0

BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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QD
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FS
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MQ
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.976744186046512e-4
allele num: 8600
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8612
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
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 frequency: 6.416014371872192e-5
allele num: 15586
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

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

African
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num of homozygotes: 0

MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: 1.47e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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Latino
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allele frequency: 3.457814661134163e-4
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East Asian
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European (Non-Finnish)
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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European (Non-Finnish)
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allele frequency: 3.008061605101673e-5
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num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
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 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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16390
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
allele num: 896
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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SIO_000300: 6.569e0

DP
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SIO_000300: 1.69186e6

BaseQRankSum
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SIO_000300: -1.252e0

GenotypeDepth
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variant carriers: 2

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

African
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allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 24
allele frequency: 3.603062603212731e-4
allele num: 66610
num of homozygotes: 0

East Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 8.179999999999999e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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Other
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African
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East Asian
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Latino
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num of homozygotes: 0

South Asian
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DP
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 54

European (Non-Finnish)
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allele count: 49
allele frequency: 7.34742840005998e-4
allele num: 66690
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
type: Population
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African
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allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.0e-4

DP
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SIO_000300: 1.697559e6

BaseQRankSum
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MQ
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SIO_000300: 5.965e1

FS
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QD
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ReadPosRankSum
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SIO_000300: 8.1e-2

MQRankSum
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SIO_000300: 1.8e-1

VQSLOD
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ClippingRankSum
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SIO_000300: 1.06e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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DP
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MQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
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: 900
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.694099e6

ReadPosRankSum
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SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
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SIO_000300: -7.55e-1

ClippingRankSum
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SIO_000300: -2.62e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 900
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
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allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

East Asian
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allele frequency: 8.116883116883117e-4
allele num: 8624
num of homozygotes: 0

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

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

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

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

African
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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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Other
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.694083e6

VQSLOD
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SIO_000300: 4.89e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.693633e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 2.423e0

ClippingRankSum
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SIO_000300: 6.04e-1

MQRankSum
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BaseQRankSum
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SIO_000300: -2.297e0

QD
type: SiteQuality
SIO_000300: 6.13e0

VQSLOD
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SIO_000300: 1.17e0

ReadPosRankSum
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SIO_000300: -1.102e0

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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
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

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

BaseQRankSum
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SIO_000300: -1.995e0

FS
type: SiteQuality
SIO_000300: 1.107e0

DP
type: SiteQuality
SIO_000300: 1.693706e6

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.693434e6

MQRankSum
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SIO_000300: -3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
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SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.067e0

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.693183e6

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 3.5e-3

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.692858e6

InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.9e0

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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Other
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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

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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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: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
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allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.692173e6

FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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SIO_000300: 1.367e1

GenotypeDepth
all individuals: 37
bin: 7.75e1
variant carriers: 27

GenotypeDepth
all individuals: 2320
bin: 3.75e1
variant carriers: 24

GenotypeDepth
all individuals: 905
bin: 4.25e1
variant carriers: 32

GenotypeDepth
all individuals: 134
bin: 5.75e1
variant carriers: 52

GenotypeDepth
all individuals: 89
bin: 6.25e1
variant carriers: 40

GenotypeDepth
all individuals: 57
bin: 7.25e1
variant carriers: 43

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 18

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 44

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 23

GenotypeDepth
all individuals: 30692
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 42005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2297
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1060
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9748
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variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 9.75e1
variant carriers: 534

GenotypeQuality
all individuals: 2367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 174
allele frequency: 1.053779069767442e-2
allele num: 16512
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 42
allele frequency: 3.631333218052914e-3
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.137030995106036e-4
allele num: 9808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 313
allele frequency: 4.692090903639743e-3
allele num: 66708
num of homozygotes: 2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

DP
type: SiteQuality
SIO_000300: 1.702044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

GenotypeDepth
all individuals: 367
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 30993
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variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 2332
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variant carriers: 0

GenotypeDepth
all individuals: 874
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 503
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variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

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

GenotypeQuality
all individuals: 9855
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1074
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

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

GenotypeQuality
all individuals: 1347
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variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42352
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.678805e6

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

FS
type: SiteQuality
SIO_000300: 9.625999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

VQSLOD
type: SiteQuality
SIO_000300: -2.548e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.653e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.54e-1

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

GenotypeDepth
all individuals: 191
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 362
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variant carriers: 0

GenotypeDepth
all individuals: 2315
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variant carriers: 0

GenotypeDepth
all individuals: 28
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variant carriers: 1

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 11919
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variant carriers: 0

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 2308
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variant carriers: 0

GenotypeQuality
all individuals: 2368
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 9825
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42349
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variant carriers: 0

GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 373
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.677212e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.361e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeDepth
all individuals: 51
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 30971
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
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variant carriers: 3

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 1

GenotypeDepth
all individuals: 868
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variant carriers: 1

GenotypeDepth
all individuals: 13416
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variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 3

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 9823
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 42400
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variant carriers: 0

GenotypeQuality
all individuals: 2298
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2368
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variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 1059
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variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.039983680130559e-4
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.499295331194339e-4
allele num: 66698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.677061e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeDepth
all individuals: 30973
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 58
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 11900
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2366
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
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GenotypeQuality
all individuals: 1318
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variant carriers: 1

GenotypeQuality
all individuals: 37
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 42390
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 2296
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GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.873e1

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

DP
type: SiteQuality
SIO_000300: 1.676162e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 2.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeDepth
all individuals: 30930
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 69
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variant carriers: 0

GenotypeDepth
all individuals: 2286
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variant carriers: 0

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 358
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variant carriers: 1

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
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GenotypeQuality
all individuals: 1312
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 2349
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GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 9772
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.674823e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

GenotypeDepth
all individuals: 30926
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 11548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.351e1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.303e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.674648e6

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 92
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.344e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 1.6e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

DP
type: SiteQuality
SIO_000300: 1.672312e6

GenotypeDepth
all individuals: 95
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 30863
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 478
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.670574e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 4.554e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
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variant carriers: 0

GenotypeDepth
all individuals: 181
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42356
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.120649651972158e-4
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 1.666785e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 3.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

GenotypeDepth
all individuals: 2211
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 72
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variant carriers: 1

GenotypeDepth
all individuals: 180
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variant carriers: 0

GenotypeDepth
all individuals: 13
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GenotypeDepth
all individuals: 341
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GenotypeDepth
all individuals: 33
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variant carriers: 0

GenotypeDepth
all individuals: 26
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GenotypeDepth
all individuals: 5
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 8.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.664947e6

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 5
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variant carriers: 1

GenotypeDepth
all individuals: 30642
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variant carriers: 0

GenotypeDepth
all individuals: 14
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 342
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
all individuals: 178
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variant carriers: 2

GenotypeDepth
all individuals: 35
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GenotypeQuality
all individuals: 2244
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GenotypeQuality
all individuals: 1255
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 343
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.702702702702703e-4
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.069367710251688e-4
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
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SIO_000300: 3.74e0

BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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East Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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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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South Asian
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East Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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African
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East Asian
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European (Non-Finnish)
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MQRankSum
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QD
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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DP
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

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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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.618968e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.137e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-4
allele num: 6530
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618584e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.35e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532285250222181e-5
allele num: 65262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.56197e6

GenotypeDepth
all individuals: 10
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65054
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.068147831659902e-4
allele num: 9362
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
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SIO_000300: 3.3e0

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.545473e6

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

African
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allele count: 5
allele frequency: 5.6471651231082e-4
allele num: 8854
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.605019815059445e-4
allele num: 6056
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
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European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.899756197954596e-4
allele num: 63166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

GenotypeDepth
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variant carriers: 11

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

African
type: Population
allele count: 104
allele frequency: 1.154273029966704e-2
allele num: 9010
num of homozygotes: 1

South Asian
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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: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.893580761219466e-4
allele num: 10562
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.909139801955139e-5
allele num: 63218
num of homozygotes: 0

QD
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SIO_000300: 1.369e1

VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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MQRankSum
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SIO_000300: 1.15e-1

ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 844
num of homozygotes: 0

African
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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: 1.310444240597563e-4
allele num: 15262
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.175107159866646e-5
allele num: 62990
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8130
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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

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

European (Finnish)
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allele count: 4
allele frequency: 6.457862447529867e-4
allele num: 6194
num of homozygotes: 0

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

Other
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allele 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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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -9.330000000000001e-1

InbreedingCoeff
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ClippingRankSum
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QD
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FS
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MQ
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SIO_000300: 5.933e1

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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variant carriers: 0

South Asian
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allele count: 5
allele frequency: 3.405530581664623e-4
allele num: 14682
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: 61184
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
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

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: 7.75e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

East Asian
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South Asian
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.7e-3

ClippingRankSum
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.700333265320003e-5
allele num: 58812
num of homozygotes: 0

Other
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Latino
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allele count: 4
allele frequency: 4.223864836325237e-4
allele num: 9470
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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African
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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East Asian
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allele count: 0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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allele num: 66304
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Other
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South Asian
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ClippingRankSum
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DP
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FS
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

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

GenotypeQuality
all individuals: 8747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 612
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

FS
type: SiteQuality
SIO_000300: 1.105e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.053e0

MQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

DP
type: SiteQuality
SIO_000300: 2.015062e6

GenotypeDepth
all individuals: 434
bin: 6.25e1
variant carriers: 46

GenotypeDepth
all individuals: 509
bin: 5.75e1
variant carriers: 34

GenotypeDepth
all individuals: 420
bin: 6.75e1
variant carriers: 69

GenotypeDepth
all individuals: 24712
bin: 2.75e1
variant carriers: 6

GenotypeDepth
all individuals: 10232
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 188
bin: 7.5e0
variant carriers: 4