17-30520175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520175
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520175
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*628A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.660A>G
  hgvsp: ENST00000333942.6:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.660A>G
  hgvsp: ENST00000581031.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.279A>G
  hgvsp: ENST00000583994.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.173A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.660A>G
  hgvsp: ENST00000394692.2:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.660A>G
  hgvsp: ENST00000358365.3:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.660A>G
  hgvsp: ENST00000581094.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.660A>G
  hgvsp: ENST00000545287.2:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.597A>G
  hgvsp: ENST00000354266.3:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro220Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-30520191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520191
    reference: chr 17
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.676C>T
  hgvsp: ENST00000581031.1:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.676C>T
  hgvsp: ENST00000394692.2:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*644C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.613C>T
  hgvsp: ENST00000354266.3:c.613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.676C>T
  hgvsp: ENST00000358365.3:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.676C>T
  hgvsp: ENST00000333942.6:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.676C>T
  hgvsp: ENST00000545287.2:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.676C>T
  hgvsp: ENST00000581094.1:c.676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.295C>T
  hgvsp: ENST00000583994.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.189C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu226Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-30520196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520196
    reference: chr 17
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.681G>A
  hgvsp: ENST00000333942.6:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.618G>A
  hgvsp: ENST00000354266.3:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.681G>A
  hgvsp: ENST00000545287.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.681G>A
  hgvsp: ENST00000581031.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.300G>A
  hgvsp: ENST00000583994.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.681G>A
  hgvsp: ENST00000581094.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.194G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.681G>A
  hgvsp: ENST00000358365.3:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*649G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.681G>A
  hgvsp: ENST00000394692.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu227Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/17-30520198-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520198
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.620A>C
  hgvsp: ENSP00000346215.3:p.Asp207Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.302A>C
  hgvsp: ENSP00000462698.1:p.Asp101Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.683A>C
  hgvsp: ENSP00000464094.1:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*651A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.683A>C
  hgvsp: ENSP00000334724.6:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.196A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.683A>C
  hgvsp: ENSP00000439737.2:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.683A>C
  hgvsp: ENSP00000378184.2:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.683A>C
  hgvsp: ENSP00000351132.3:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.683A>C
  hgvsp: ENSP00000462669.1:p.Asp228Ala
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp228Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-30520198-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520198
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.196A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.302A>T
  hgvsp: ENSP00000462698.1:p.Asp101Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.683A>T
  hgvsp: ENSP00000334724.6:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.683A>T
  hgvsp: ENSP00000378184.2:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.683A>T
  hgvsp: ENSP00000351132.3:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.683A>T
  hgvsp: ENSP00000439737.2:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.683A>T
  hgvsp: ENSP00000462669.1:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.620A>T
  hgvsp: ENSP00000346215.3:p.Asp207Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.683A>T
  hgvsp: ENSP00000464094.1:p.Asp228Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*651A>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp228Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-30520205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520205
    reference: chr 17
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.309G>A
  hgvsp: ENST00000583994.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.690G>A
  hgvsp: ENST00000581094.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.690G>A
  hgvsp: ENST00000358365.3:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.690G>A
  hgvsp: ENST00000333942.6:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.690G>A
  hgvsp: ENST00000545287.2:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.690G>A
  hgvsp: ENST00000394692.2:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*658G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.690G>A
  hgvsp: ENST00000581031.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.203G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.627G>A
  hgvsp: ENST00000354266.3:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys230Lys
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-30520207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520207
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*660A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.311A>G
  hgvsp: ENSP00000462698.1:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.692A>G
  hgvsp: ENSP00000351132.3:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.692A>G
  hgvsp: ENSP00000462669.1:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.692A>G
  hgvsp: ENSP00000439737.2:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.692A>G
  hgvsp: ENSP00000334724.6:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.629A>G
  hgvsp: ENSP00000346215.3:p.Asn210Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.692A>G
  hgvsp: ENSP00000378184.2:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.205A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.692A>G
  hgvsp: ENSP00000464094.1:p.Asn231Ser
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn231Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-30520209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520209
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.694G>A
  hgvsp: ENSP00000439737.2:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.694G>A
  hgvsp: ENSP00000378184.2:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.694G>A
  hgvsp: ENSP00000334724.6:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.694G>A
  hgvsp: ENSP00000464094.1:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.694G>A
  hgvsp: ENSP00000462669.1:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.694G>A
  hgvsp: ENSP00000351132.3:p.Val232Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.631G>A
  hgvsp: ENSP00000346215.3:p.Val211Ile
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.207G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*662G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.313G>A
  hgvsp: ENSP00000462698.1:p.Val105Ile
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val232Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-30520225-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520225
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.647T>C
  hgvsp: ENSP00000346215.3:p.Ile216Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.329T>C
  hgvsp: ENSP00000462698.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.710T>C
  hgvsp: ENSP00000334724.6:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.710T>C
  hgvsp: ENSP00000378184.2:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.710T>C
  hgvsp: ENSP00000462669.1:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.710T>C
  hgvsp: ENSP00000439737.2:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.710T>C
  hgvsp: ENSP00000351132.3:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.710T>C
  hgvsp: ENSP00000464094.1:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.223T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*678T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile237Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-30520228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520228
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.713G>A
  hgvsp: ENSP00000351132.3:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.226G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.650G>A
  hgvsp: ENSP00000346215.3:p.Ser217Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.713G>A
  hgvsp: ENSP00000378184.2:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.713G>A
  hgvsp: ENSP00000462669.1:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.713G>A
  hgvsp: ENSP00000439737.2:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.713G>A
  hgvsp: ENSP00000464094.1:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.713G>A
  hgvsp: ENSP00000334724.6:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.332G>A
  hgvsp: ENSP00000462698.1:p.Ser111Asn
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*681G>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser238Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-30520236-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520236
    reference: chr 17
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.658G>T
  hgvsp: ENSP00000346215.3:p.Val220Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.721G>T
  hgvsp: ENSP00000462669.1:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.721G>T
  hgvsp: ENSP00000378184.2:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.234G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*689G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.721G>T
  hgvsp: ENSP00000334724.6:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.721G>T
  hgvsp: ENSP00000464094.1:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.340G>T
  hgvsp: ENSP00000462698.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.721G>T
  hgvsp: ENSP00000351132.3:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.721G>T
  hgvsp: ENSP00000439737.2:p.Val241Leu
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val241Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-30520244-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520244
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.348C>A
  hgvsp: ENSP00000462698.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.729C>A
  hgvsp: ENSP00000462669.1:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.729C>A
  hgvsp: ENSP00000334724.6:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.729C>A
  hgvsp: ENSP00000439737.2:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.729C>A
  hgvsp: ENSP00000464094.1:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.729C>A
  hgvsp: ENSP00000351132.3:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.729C>A
  hgvsp: ENSP00000378184.2:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.242C>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.666C>A
  hgvsp: ENSP00000346215.3:p.Asp222Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*697C>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47780
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp243Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-30520250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520250
    reference: chr 17
allele count: 6
allele frequency: 4.945761482409575e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.735G>A
  hgvsp: ENST00000581031.1:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.735G>A
  hgvsp: ENST00000581094.1:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.735G>A
  hgvsp: ENST00000333942.6:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.735G>A
  hgvsp: ENST00000545287.2:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.672G>A
  hgvsp: ENST00000354266.3:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.248G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.354G>A
  hgvsp: ENST00000583994.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.735G>A
  hgvsp: ENST00000394692.2:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.735G>A
  hgvsp: ENST00000358365.3:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*703G>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly245Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

17-30520277-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520277
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520278
    reference: chr 17
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+19dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+19dupT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41935
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-30520277-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520277
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520276
    reference: chr 17
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+19delT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

17-30520279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520279
    reference: chr 17
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+16T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+16T>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-30520282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520282
    reference: chr 17
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+19T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+19T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

17-30520287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520287
    reference: chr 17
allele count: 4
allele frequency: 3.349915414635781e-5
allele num: 119406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+24C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-30520288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520288
    reference: chr 17
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.685+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*716+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.261+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.367+25T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.748+25T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-30520957-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520957
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520954
    reference: chr 17
allele count: 6
allele frequency: 4.979170470199664e-5
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-46_262-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-46_686-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-46_*717-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-46_368-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-46_749-44delCCT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: TCTC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

17-30520958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520958
    reference: chr 17
allele count: 3076
allele frequency: 2.554350533955589e-2
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-48C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 7.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 9.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 6.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 16298
  bin: 9.75e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 8.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 71
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

17-30520960-CCTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520960
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520957
    reference: chr 17
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-45_368-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-45_262-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-45_*717-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-45_686-43delCTA
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-45_749-43delCTA
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: CCTA
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-30520968-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520966
    reference: chr 17
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-35_262-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-35_368-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-35_*717-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-35_749-34delCT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-35_686-34delCT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: ACT
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

17-30520976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520976
    reference: chr 17
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-30C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-30520980-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520978
    reference: chr 17
allele count: 2
allele frequency: 1.654095540558423e-5
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-24_686-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-24_*717-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-24_368-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-24_262-23delAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-24_749-23delAT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: TTA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-30520988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520988
    reference: chr 17
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-18T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-18T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-30520998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30520998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30520998
    reference: chr 17
allele count: 4
allele frequency: 3.299731071917638e-5
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.262-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.368-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.686-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*717-8T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.749-8T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16376
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: c.749-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-30521023-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521023
    reference: chr 17
allele count: 50
allele frequency: 4.11868399808893e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.766A>T
  hgvsp: ENSP00000439737.2:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.766A>T
  hgvsp: ENSP00000378184.2:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.766A>T
  hgvsp: ENSP00000462669.1:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.703A>T
  hgvsp: ENSP00000346215.3:p.Thr235Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*734A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.766A>T
  hgvsp: ENSP00000351132.3:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.766A>T
  hgvsp: ENSP00000334724.6:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.385A>T
  hgvsp: ENSP00000462698.1:p.Thr129Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.766A>T
  hgvsp: ENSP00000464094.1:p.Thr256Ser
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.279A>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53241
  bin: 9.75e1
  variant carriers: 49
hgvs: p.Thr256Ser
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-30521049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521049
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.792C>T
  hgvsp: ENST00000394692.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.411C>T
  hgvsp: ENST00000583994.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.729C>T
  hgvsp: ENST00000354266.3:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.792C>T
  hgvsp: ENST00000333942.6:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.792C>T
  hgvsp: ENST00000581031.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.792C>T
  hgvsp: ENST00000358365.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.792C>T
  hgvsp: ENST00000545287.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.305C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.792C>T
  hgvsp: ENST00000581094.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*760C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His264His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-30521074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521074
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.817C>T
  hgvsp: ENSP00000462669.1:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.436C>T
  hgvsp: ENSP00000462698.1:p.Arg146Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.817C>T
  hgvsp: ENSP00000351132.3:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.754C>T
  hgvsp: ENSP00000346215.3:p.Arg252Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.817C>T
  hgvsp: ENSP00000439737.2:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.330C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.817C>T
  hgvsp: ENSP00000334724.6:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.817C>T
  hgvsp: ENSP00000378184.2:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.817C>T
  hgvsp: ENSP00000464094.1:p.Arg273Ter
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*785C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg273Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-30521075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521075
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.818G>A
  hgvsp: ENSP00000351132.3:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.818G>A
  hgvsp: ENSP00000462669.1:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.818G>A
  hgvsp: ENSP00000378184.2:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.331G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.818G>A
  hgvsp: ENSP00000439737.2:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.755G>A
  hgvsp: ENSP00000346215.3:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.818G>A
  hgvsp: ENSP00000464094.1:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.437G>A
  hgvsp: ENSP00000462698.1:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.818G>A
  hgvsp: ENSP00000334724.6:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*786G>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53237
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg273Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-30521086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521086
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.829G>C
  hgvsp: ENSP00000351132.3:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.829G>C
  hgvsp: ENSP00000378184.2:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.829G>C
  hgvsp: ENSP00000464094.1:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.766G>C
  hgvsp: ENSP00000346215.3:p.Asp256His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*797G>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.829G>C
  hgvsp: ENSP00000334724.6:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.342G>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.829G>C
  hgvsp: ENSP00000462669.1:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.448G>C
  hgvsp: ENSP00000462698.1:p.Asp150His
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.829G>C
  hgvsp: ENSP00000439737.2:p.Asp277His
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp277His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

17-30521094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521094
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.456C>T
  hgvsp: ENST00000583994.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.837C>T
  hgvsp: ENST00000333942.6:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.837C>T
  hgvsp: ENST00000545287.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.837C>T
  hgvsp: ENST00000581031.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.837C>T
  hgvsp: ENST00000581094.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.774C>T
  hgvsp: ENST00000354266.3:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.350C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.837C>T
  hgvsp: ENST00000394692.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*805C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.837C>T
  hgvsp: ENST00000358365.3:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp279Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-30521099-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521099
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.842A>T
  hgvsp: ENSP00000351132.3:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.842A>T
  hgvsp: ENSP00000464094.1:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*810A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.842A>T
  hgvsp: ENSP00000439737.2:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.355A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.842A>T
  hgvsp: ENSP00000334724.6:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.461A>T
  hgvsp: ENSP00000462698.1:p.Asp154Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.842A>T
  hgvsp: ENSP00000462669.1:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.842A>T
  hgvsp: ENSP00000378184.2:p.Asp281Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.779A>T
  hgvsp: ENSP00000346215.3:p.Asp260Val
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp281Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-30521112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521112
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.474A>G
  hgvsp: ENST00000583994.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.855A>G
  hgvsp: ENST00000358365.3:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.855A>G
  hgvsp: ENST00000545287.2:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.368A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*823A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.855A>G
  hgvsp: ENST00000333942.6:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.792A>G
  hgvsp: ENST00000354266.3:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.855A>G
  hgvsp: ENST00000581094.1:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.855A>G
  hgvsp: ENST00000581031.1:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.855A>G
  hgvsp: ENST00000394692.2:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu285Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-30521118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521118
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.861G>A
  hgvsp: ENST00000333942.6:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.861G>A
  hgvsp: ENST00000581094.1:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.798G>A
  hgvsp: ENST00000354266.3:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.480G>A
  hgvsp: ENST00000583994.1:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.861G>A
  hgvsp: ENST00000394692.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*829G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.861G>A
  hgvsp: ENST00000581031.1:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.374G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.861G>A
  hgvsp: ENST00000545287.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.861G>A
  hgvsp: ENST00000358365.3:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu287Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-30521124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521124
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.867C>T
  hgvsp: ENST00000394692.2:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.486C>T
  hgvsp: ENST00000583994.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.867C>T
  hgvsp: ENST00000581094.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.867C>T
  hgvsp: ENST00000581031.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*835C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.867C>T
  hgvsp: ENST00000333942.6:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.867C>T
  hgvsp: ENST00000545287.2:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.380C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.867C>T
  hgvsp: ENST00000358365.3:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.804C>T
  hgvsp: ENST00000354266.3:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.867C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-30521139-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521139
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521140
    reference: chr 17
allele count: 10
allele frequency: 8.261322141995605e-5
allele num: 121046
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+21dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+21dupT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16418
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 53230
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-30521140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521140
    reference: chr 17
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+14T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+14T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-30521140-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521140
    reference: chr 17
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+14T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+14T>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-30521145-T-TTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521148
    reference: chr 17
allele count: 85
allele frequency: 7.011350138577273e-4
allele num: 121232
alternate allele: TTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+34_806+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+34_*837+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+34_382+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+34_488+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+34_869+36dupGTT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-30521145-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521145
    reference: chr 17
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+19T>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-30521145-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521142
    reference: chr 17
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+34_488+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+34_806+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+34_382+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+34_*837+36delGTT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+34_869+36delGTT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: TTTG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-30521146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521146
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521146
    reference: chr 17
allele count: 4
allele frequency: 3.305511941161887e-5
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+20T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+20T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16462
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53155
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-30521147-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521147
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521146
    reference: chr 17
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+22delG
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TG
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-30521148-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521148
    reference: chr 17
allele count: 57
allele frequency: 4.704445288126641e-4
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+22G>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53238
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

17-30521152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521152
    reference: chr 17
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+26T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+26T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53235
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

17-30521163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521163
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521163
    reference: chr 17
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+37T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+37T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-30521163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521163
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521163
    reference: chr 17
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+37T>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

17-30521173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521173
    reference: chr 17
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+47T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+47T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-30521176-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30521176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30521175
    reference: chr 17
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*837+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.488+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.382+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.869+51delG
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.806+51delG
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53220
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-30525923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525923
    reference: chr 17
allele count: 1
allele frequency: 9.318448664666307e-6
allele num: 107314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-43C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-30525930-TTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525927
    reference: chr 17
allele count: 1824
allele frequency: 1.642740061602752e-2
allele num: 111034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-34_489-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-34_383-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-34_807-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-34_*838-32delAAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-34_870-32delAAT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 1.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 26082
  bin: 2.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 6
num of homozygotes: 155
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: TTAA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-30525930-TTAATGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525924
    reference: chr 17
allele count: 1
allele frequency: 9.006250337734388e-6
allele num: 111034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-34_489-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-34_807-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-34_870-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-34_*838-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-34_383-29delAATGAT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TTAATGA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

17-30525932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525932
    reference: chr 17
allele count: 1
allele frequency: 9.182061923825615e-6
allele num: 108908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-34A>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-30525943-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525943
    reference: chr 17
allele count: 1
allele frequency: 8.509189925119129e-6
allele num: 117520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-23T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-23T>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-30525952-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525952
    reference: chr 17
allele count: 2
allele frequency: 1.672632388853578e-5
allele num: 119572
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-14A>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-14A>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

17-30525953-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525954
    reference: chr 17
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-7dupT
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38978
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-30525959-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525959
    reference: chr 17
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-7T>A
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: c.870-7T>A
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-30525961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525961
    reference: chr 17
allele count: 8
allele frequency: 6.646395161424322e-5
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*838-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.383-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.489-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.870-5A>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.807-5A>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
hgvs: c.870-5A>C
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

17-30525967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525967
    reference: chr 17
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.871C>G
  hgvsp: ENSP00000378184.2:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.871C>G
  hgvsp: ENSP00000334724.6:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.871C>G
  hgvsp: ENSP00000462669.1:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.871C>G
  hgvsp: ENSP00000464094.1:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.384C>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.871C>G
  hgvsp: ENSP00000439737.2:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*839C>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.808C>G
  hgvsp: ENSP00000346215.3:p.Leu270Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.490C>G
  hgvsp: ENSP00000462698.1:p.Leu164Val
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.871C>G
  hgvsp: ENSP00000351132.3:p.Leu291Val
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu291Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-30525970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30525970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30525970
    reference: chr 17
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.874A>G
  hgvsp: ENSP00000464094.1:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.874A>G
  hgvsp: ENSP00000378184.2:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.811A>G
  hgvsp: ENSP00000346215.3:p.Lys271Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*842A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.874A>G
  hgvsp: ENSP00000351132.3:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.874A>G
  hgvsp: ENSP00000334724.6:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.874A>G
  hgvsp: ENSP00000439737.2:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.493A>G
  hgvsp: ENSP00000462698.1:p.Lys165Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.874A>G
  hgvsp: ENSP00000462669.1:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.387A>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys292Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-30526010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526010
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.914C>G
  hgvsp: ENSP00000439737.2:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*882C>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.914C>G
  hgvsp: ENSP00000378184.2:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.914C>G
  hgvsp: ENSP00000351132.3:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.851C>G
  hgvsp: ENSP00000346215.3:p.Ala284Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.427C>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.914C>G
  hgvsp: ENSP00000334724.6:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.914C>G
  hgvsp: ENSP00000464094.1:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.533C>G
  hgvsp: ENSP00000462698.1:p.Ala178Gly
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.914C>G
  hgvsp: ENSP00000462669.1:p.Ala305Gly
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala305Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-30526013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526013
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.917A>G
  hgvsp: ENSP00000351132.3:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.917A>G
  hgvsp: ENSP00000378184.2:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.430A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.854A>G
  hgvsp: ENSP00000346215.3:p.Tyr285Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.917A>G
  hgvsp: ENSP00000334724.6:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.917A>G
  hgvsp: ENSP00000464094.1:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.536A>G
  hgvsp: ENSP00000462698.1:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*885A>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.917A>G
  hgvsp: ENSP00000439737.2:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.917A>G
  hgvsp: ENSP00000462669.1:p.Tyr306Cys
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr306Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-30526041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526041
    reference: chr 17
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*913G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.882G>A
  hgvsp: ENST00000354266.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.945G>A
  hgvsp: ENST00000333942.6:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.945G>A
  hgvsp: ENST00000394692.2:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.458G>A
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.945G>A
  hgvsp: ENST00000358365.3:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.564G>A
  hgvsp: ENST00000583994.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.945G>A
  hgvsp: ENST00000545287.2:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.945G>A
  hgvsp: ENST00000581094.1:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.945G>A
  hgvsp: ENST00000581031.1:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys315Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

17-30526050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526050
    reference: chr 17
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.954G>T
  hgvsp: ENSP00000351132.3:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.954G>T
  hgvsp: ENSP00000462669.1:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.573G>T
  hgvsp: ENSP00000462698.1:p.Leu191Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.954G>T
  hgvsp: ENSP00000334724.6:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.954G>T
  hgvsp: ENSP00000439737.2:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.954G>T
  hgvsp: ENSP00000378184.2:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.954G>T
  hgvsp: ENSP00000464094.1:p.Leu318Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.891G>T
  hgvsp: ENSP00000346215.3:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.467G>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*922G>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu318Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-30526056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526056
    reference: chr 17
allele count: 3
allele frequency: 2.484965955966403e-5
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.573+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*922+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.467+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.954+6C>T
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.891+6C>T
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39278
  bin: 6.25e1
  variant carriers: 0
hgvs: c.954+6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-30526066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526066
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526066
    reference: chr 17
allele count: 484
allele frequency: 4.024011041088146e-3
allele num: 120278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.467+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.573+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*922+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.954+16T>C
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.891+16T>C
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 30578
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 2.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6299
  bin: 9.75e1
  variant carriers: 477
num of homozygotes: 4
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-30526069-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30526069
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 30526069
    reference: chr 17
allele count: 5
allele frequency: 4.163474669420111e-5
allele num: 120092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000346215
  ensembl transcript: ENST00000354266
  gene symbol: RHOT1
  hgvsc: ENST00000354266.3:c.891+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000439737
  ensembl transcript: ENST00000545287
  gene symbol: RHOT1
  hgvsc: ENST00000545287.2:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000334724
  ensembl transcript: ENST00000333942
  gene symbol: RHOT1
  hgvsc: ENST00000333942.6:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000464094
  ensembl transcript: ENST00000581031
  gene symbol: RHOT1
  hgvsc: ENST00000581031.1:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000378184
  ensembl transcript: ENST00000394692
  gene symbol: RHOT1
  hgvsc: ENST00000394692.2:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462612
  ensembl transcript: ENST00000578205
  gene symbol: RHOT1
  hgvsc: ENST00000578205.1:c.*922+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462698
  ensembl transcript: ENST00000583994
  gene symbol: RHOT1
  hgvsc: ENST00000583994.1:c.573+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl transcript: ENST00000580976
  gene symbol: RHOT1
  hgvsc: ENST00000580976.1:n.467+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000462669
  ensembl transcript: ENST00000581094
  gene symbol: RHOT1
  hgvsc: ENST00000581094.1:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126858
  ensembl protein: ENSP00000351132
  ensembl transcript: ENST00000358365
  gene symbol: RHOT1
  hgvsc: ENST00000358365.3:c.954+19T>G
  variant of: http://identifiers.org/hgnc/21168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

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

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 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: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.76e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 1.142e0

DP
type: SiteQuality
SIO_000300: 1.528193e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

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

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3373
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47906
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.529374e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

FS
type: SiteQuality
SIO_000300: 3.067e0

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47911
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3372
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.529529e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47905
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.0578e1

DP
type: SiteQuality
SIO_000300: 1.529548e6

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.753e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.062e1

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

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
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: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.753e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 1.0578e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.529548e6

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

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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Other
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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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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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QD
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FS
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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DP
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GenotypeQuality
all individuals: 1229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024071610015725e-5
allele num: 66136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0387e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.098e1

DP
type: SiteQuality
SIO_000300: 1.50891e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 6.26e0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.098e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 6.26e0

DP
type: SiteQuality
SIO_000300: 1.50891e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 1.0387e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

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

GenotypeQuality
all individuals: 1422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.48967e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.943e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
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variant carriers: 0

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

GenotypeQuality
all individuals: 42553
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.488966e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.935e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.39e0

GenotypeQuality
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2407
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variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 36893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
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variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.532944709415298e-4
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.45318e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 1445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.452309e6

GenotypeQuality
all individuals: 602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53229
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
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GenotypeQuality
all individuals: 511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 40
bin: 7.5e0
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GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 132
bin: 5.75e1
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GenotypeQuality
all individuals: 1356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 6.75e1
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GenotypeQuality
all individuals: 223
bin: 7.25e1
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GenotypeQuality
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 15926
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: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.632e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.602e1

FS
type: SiteQuality
SIO_000300: 5.926e0

DP
type: SiteQuality
SIO_000300: 4.881222e6

GenotypeQuality
all individuals: 1411
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 282
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 671
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
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GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
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GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53487
bin: 9.75e1
variant carriers: 2992

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2495
allele frequency: 3.754250805019712e-2
allele num: 66458
num of homozygotes: 58

African
type: Population
allele count: 65
allele frequency: 6.26083606241572e-3
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 212
allele frequency: 3.205322044148776e-2
allele num: 6614
num of homozygotes: 8

Latino
type: Population
allele count: 166
allele frequency: 1.435489450017295e-2
allele num: 11564
num of homozygotes: 2

Other
type: Population
allele count: 19
allele frequency: 2.111111111111111e-2
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 119
allele frequency: 7.502206531332745e-3
allele num: 15862
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.213e0

DP
type: SiteQuality
SIO_000300: 4.886817e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.496e1

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 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: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.916e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 5.666e1

QD
type: SiteQuality
SIO_000300: 1.726e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 4.890666e6

GenotypeQuality
all individuals: 543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
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GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 53233
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
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: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 4.89811e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

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

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 436
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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: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53230
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 4.907966e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.869e0

GenotypeQuality
all individuals: 427
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 3613
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 53243
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
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: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00390507659958e-5
allele num: 66580
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 4.912253e6

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 2.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

MQ
type: SiteQuality
SIO_000300: 6.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.877e1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 332
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
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GenotypeQuality
all individuals: 4083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53231
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

DP
type: SiteQuality
SIO_000300: 4.919922e6

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

FS
type: SiteQuality
SIO_000300: 3.873e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 53231
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

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

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 705
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variant carriers: 0

GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 4668
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variant carriers: 0

GenotypeQuality
all individuals: 357
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variant carriers: 0

GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 2.796e0

DP
type: SiteQuality
SIO_000300: 4.927705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.71e1

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 772
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 260
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 359
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variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 49
allele frequency: 4.708821833557563e-3
allele num: 10406
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.498e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 1.711e0

DP
type: SiteQuality
SIO_000300: 4.937724e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53237
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 357
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 781
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 261
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GenotypeQuality
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GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 5027
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GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.728e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
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SIO_000300: 4.73e-1

VQSLOD
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SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 4.936034e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
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SIO_000300: 1.31e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -1.899e0

MQRankSum
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SIO_000300: 8.21e-1

VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.25e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
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QD
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SIO_000300: 1.394e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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 (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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QD
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MQRankSum
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SIO_000300: -2.13e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -3.56e-1

FS
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MQ
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DP
type: SiteQuality
SIO_000300: 4.936377e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
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 count: 1
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allele num: 10406
num of homozygotes: 0

Latino
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East Asian
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South Asian
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BaseQRankSum
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SIO_000300: -7.762e0

QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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SIO_000300: 4.936402e6

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66728
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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Latino
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allele frequency: 8.637070305752289e-5
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.936679e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.621e0

QD
type: SiteQuality
SIO_000300: 1.063e1

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.003301815998799e-5
allele num: 66630
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.84320471860408e-4
allele num: 16276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
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SIO_000300: 4.943483e6

VQSLOD
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SIO_000300: 4.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

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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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: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.144015728680265e-5
allele num: 16276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.683e1

FS
type: SiteQuality
SIO_000300: 3.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 4.944468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.944468e6

FS
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.683e1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 85

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 7.593233371780085e-3
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500180007200288e-5
allele num: 66664
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

DP
type: SiteQuality
SIO_000300: 4.942489e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

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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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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001860576778802e-5
allele num: 66646
num of homozygotes: 0

Latino
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African
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South Asian
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
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DP
type: SiteQuality
SIO_000300: 4.939006e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -2.353e0

FS
type: SiteQuality
SIO_000300: 1.1044e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.153402537485583e-3
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 12
allele frequency: 1.38728323699422e-3
allele num: 8650
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

South Asian
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allele count: 8
allele frequency: 4.886988393402566e-4
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.001290554938624e-4
allele num: 66638
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -4.349e0

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.2e-3

ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.167999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 4.945794e6

QD
type: SiteQuality
SIO_000300: 6.87e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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SIO_000300: 1.428e0

DP
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MQRankSum
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SIO_000300: -5.201e0

MQ
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SIO_000300: 5.715e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 4.930762e6

FS
type: SiteQuality
SIO_000300: 3.819e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
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SIO_000300: 8.59e0

QD
type: SiteQuality
SIO_000300: 1.571e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.142e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
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SIO_000300: 1.571e1

ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 4.930762e6

FS
type: SiteQuality
SIO_000300: 3.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

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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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66518
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South Asian
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66466
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African
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Latino
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Other
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European (Finnish)
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 58242
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South Asian
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Other
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East Asian
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allele count: 0
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Latino
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European (Finnish)
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African
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1278
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7110
bin: 9.75e1
variant carriers: 1622

GenotypeQuality
all individuals: 2462
bin: 7.75e1
variant carriers: 12

African
type: Population
allele count: 1649
allele frequency: 1.815279612505504e-1
allele num: 9084
num of homozygotes: 153

Other
type: Population
allele count: 5
allele frequency: 5.733944954128441e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 7.351221305175928e-4
allele num: 59854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

Latino
type: Population
allele count: 95
allele frequency: 8.359732488560366e-3
allele num: 11364
num of homozygotes: 1

South Asian
type: Population
allele count: 15
allele frequency: 9.735202492211838e-4
allele num: 15408
num of homozygotes: 1

East Asian
type: Population
allele count: 16
allele frequency: 1.972386587771203e-3
allele num: 8112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.343e-1

MQ
type: SiteQuality
SIO_000300: 5.545e1

QD
type: SiteQuality
SIO_000300: 2.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 1.580008e6

GenotypeQuality
all individuals: 281
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7110
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.100836635843241e-4
allele num: 9084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.343e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.545e1

DP
type: SiteQuality
SIO_000300: 1.580008e6

QD
type: SiteQuality
SIO_000300: 2.053e1

GenotypeQuality
all individuals: 958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652783287055401e-5
allele num: 60504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.828e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 1.525865e6

GenotypeQuality
all individuals: 403
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5981
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5903
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37214
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.197322756569162e-5
allele num: 16136
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 1.2308e1

DP
type: SiteQuality
SIO_000300: 1.652215e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

QD
type: SiteQuality
SIO_000300: 1.084e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeQuality
all individuals: 5905
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040900106431504e-5
allele num: 65770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.267e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.67766e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
all individuals: 1828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.180000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.269e0

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

DP
type: SiteQuality
SIO_000300: 1.679343e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5903
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39442
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

FS
type: SiteQuality
SIO_000300: 2.302e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 1.684835e6

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5909
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6125
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39532
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.257116408238834e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 1.68712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 4.829e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5905
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
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: 0

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

South Asian
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Other
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66410
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.994017946161515e-4
allele num: 10030
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 6.06501698204755e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66444
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 1.97e-1

FS
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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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 frequency: 0.0e0
allele num: 66604
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East Asian
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South Asian
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Other
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

FS
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SIO_000300: 1.317e0

BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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DP
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SIO_000300: 1.696291e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6604
num of homozygotes: 0

South Asian
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allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
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Other
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Latino
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ReadPosRankSum
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SIO_000300: -1.373e0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

Other
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African
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East Asian
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South Asian
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.52106817770812e-5
allele num: 66356
num of homozygotes: 0

Other
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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BaseQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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African
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allele count: 17
allele frequency: 1.672569854388036e-3
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European (Finnish)
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allele count: 9
allele frequency: 1.366120218579235e-3
allele num: 6588
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European (Non-Finnish)
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allele count: 399
allele frequency: 6.036125987110829e-3
allele num: 66102
num of homozygotes: 3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.687154e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

QD
type: SiteQuality
SIO_000300: 1.54e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0