6-31727329-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727329
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727330
    reference: chr 6
allele count: 1
allele frequency: 8.951109042410355e-6
allele num: 111718
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1546+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1495+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*704+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1495+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.592+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1546+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.68+47dupA
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1495+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1546+47dupA
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.28dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1546+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1495+47dupA
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.517+47dupA
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-31727330-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727330
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727330
    reference: chr 6
allele count: 2
allele frequency: 1.792885829030407e-5
allele num: 111552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*704+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1495+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1546+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1546+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.68+41A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1546+41A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1546+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1495+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.22A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1495+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1495+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.517+41A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.592+41A>T
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

6-31727332-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727332
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727332
    reference: chr 6
allele count: 1
allele frequency: 9.00835975785529e-6
allele num: 111008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1546+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1546+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1546+43A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.24A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.517+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1495+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1495+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1495+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1546+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.68+43A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*704+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1495+43A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.592+43A>T
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-31727521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727521
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727521
    reference: chr 6
allele count: 1
allele frequency: 8.560324607509117e-6
allele num: 116818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.213C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-42C>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-42C>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-42C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-42C>G
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

6-31727522-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727522
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727522
    reference: chr 6
allele count: 1
allele frequency: 8.550808906522558e-6
allele num: 116948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.214C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-41C>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-41C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-41C>G
  variant of: http://identifiers.org/hgnc/41994
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-31727529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727529
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727529
    reference: chr 6
allele count: 1
allele frequency: 8.534462158194791e-6
allele num: 117172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-34C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.221C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-34C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-34C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-31727553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727553
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727553
    reference: chr 6
allele count: 33
allele frequency: 2.781946013387062e-4
allele num: 118622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-10C>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.245C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-10C>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-10C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-10C>A
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-31727558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727558
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727558
    reference: chr 6
allele count: 211
allele frequency: 1.774361734333479e-3
allele num: 118916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.250C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-5C>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-5C>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-5C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-5C>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: c.1547-5C>A
num of homozygotes: 4
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-31727560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727560
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727560
    reference: chr 6
allele count: 1
allele frequency: 8.404491360182881e-6
allele num: 118984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.252C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547-3C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518-3C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69-3C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547-3C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1547-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-31727563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727563
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727563
    reference: chr 6
allele count: 17
allele frequency: 1.426988550515395e-4
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1496A>G
  hgvsp: ENSP00000364903.3:p.Asp499Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1547A>G
  hgvsp: ENSP00000364894.3:p.Asp516Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1496A>G
  hgvsp: ENSP00000406352.2:p.Asp499Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1496A>G
  hgvsp: ENSP00000364855.3:p.Asp499Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1496A>G
  hgvsp: ENSP00000364908.3:p.Asp499Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1547A>G
  hgvsp: ENSP00000417871.2:p.Asp516Gly
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*705A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.518A>G
  hgvsp: ENSP00000379194.1:p.Asp173Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.593A>G
  hgvsp: ENSP00000416784.2:p.Asp198Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.69A>G
  hgvsp: ENSP00000419220.2:p.Asp24Gly
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1547A>G
  hgvsp: ENSP00000364892.3:p.Asp516Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1547A>G
  hgvsp: ENSP00000431693.4:p.Asp516Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.255A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp516Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

6-31727572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727572
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727572
    reference: chr 6
allele count: 2
allele frequency: 1.672856234735187e-5
allele num: 119556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.527C>T
  hgvsp: ENSP00000379194.1:p.Thr176Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1556C>T
  hgvsp: ENSP00000417871.2:p.Thr519Met
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1556C>T
  hgvsp: ENSP00000364892.3:p.Thr519Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.602C>T
  hgvsp: ENSP00000416784.2:p.Thr201Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1556C>T
  hgvsp: ENSP00000431693.4:p.Thr519Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.78C>T
  hgvsp: ENSP00000419220.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1505C>T
  hgvsp: ENSP00000406352.2:p.Thr502Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*714C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1505C>T
  hgvsp: ENSP00000364903.3:p.Thr502Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1556C>T
  hgvsp: ENSP00000364894.3:p.Thr519Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1505C>T
  hgvsp: ENSP00000364855.3:p.Thr502Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1505C>T
  hgvsp: ENSP00000364908.3:p.Thr502Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.264C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr519Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

6-31727573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727573
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727573
    reference: chr 6
allele count: 6
allele frequency: 5.014290728576443e-5
allele num: 119658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.528G>A
  hgvsp: ENST00000395853.1:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.265G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*715G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1506G>A
  hgvsp: ENST00000375703.3:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1506G>A
  hgvsp: ENST00000375750.3:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1506G>A
  hgvsp: ENST00000423982.2:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.79G>A
  hgvsp: ENST00000498473.2:c.79G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1557G>A
  hgvsp: ENST00000493662.2:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1557G>A
  hgvsp: ENST00000375740.3:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.603G>A
  hgvsp: ENST00000431848.2:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1557G>A
  hgvsp: ENST00000375742.3:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1557G>A
  hgvsp: ENST00000534153.4:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1506G>A
  hgvsp: ENST00000375755.3:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr519Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

6-31727575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727575
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727575
    reference: chr 6
allele count: 1
allele frequency: 8.350033400133601e-6
allele num: 119760
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1508T>C
  hgvsp: ENSP00000364855.3:p.Leu503Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1559T>C
  hgvsp: ENSP00000364894.3:p.Leu520Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1559T>C
  hgvsp: ENSP00000417871.2:p.Leu520Pro
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1508T>C
  hgvsp: ENSP00000364903.3:p.Leu503Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.81T>C
  hgvsp: ENSP00000419220.2:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*717T>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.530T>C
  hgvsp: ENSP00000379194.1:p.Leu177Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1508T>C
  hgvsp: ENSP00000406352.2:p.Leu503Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1508T>C
  hgvsp: ENSP00000364908.3:p.Leu503Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1559T>C
  hgvsp: ENSP00000364892.3:p.Leu520Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.605T>C
  hgvsp: ENSP00000416784.2:p.Leu202Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1559T>C
  hgvsp: ENSP00000431693.4:p.Leu520Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.267T>C
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu520Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

6-31727582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727582
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727582
    reference: chr 6
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1515G>A
  hgvsp: ENSP00000406352.2:p.Met505Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1566G>A
  hgvsp: ENSP00000364892.3:p.Met522Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1515G>A
  hgvsp: ENSP00000364903.3:p.Met505Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1566G>A
  hgvsp: ENSP00000364894.3:p.Met522Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1515G>A
  hgvsp: ENSP00000364855.3:p.Met505Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.274G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1566G>A
  hgvsp: ENSP00000417871.2:p.Met522Ile
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.537G>A
  hgvsp: ENSP00000379194.1:p.Met179Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1515G>A
  hgvsp: ENSP00000364908.3:p.Met505Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.88G>A
  hgvsp: ENSP00000419220.2:p.Met30Ile
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.612G>A
  hgvsp: ENSP00000416784.2:p.Met204Ile
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*724G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1566G>A
  hgvsp: ENSP00000431693.4:p.Met522Ile
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met522Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-31727601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727601
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727601
    reference: chr 6
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1534G>A
  hgvsp: ENSP00000364855.3:p.Val512Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.556G>A
  hgvsp: ENSP00000379194.1:p.Val186Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1534G>A
  hgvsp: ENSP00000364903.3:p.Val512Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1585G>A
  hgvsp: ENSP00000364894.3:p.Val529Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.631G>A
  hgvsp: ENSP00000416784.2:p.Val211Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*743G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1585G>A
  hgvsp: ENSP00000364892.3:p.Val529Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1585G>A
  hgvsp: ENSP00000431693.4:p.Val529Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.107G>A
  hgvsp: ENSP00000419220.2:p.Val37Met
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1534G>A
  hgvsp: ENSP00000406352.2:p.Val512Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.293G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1534G>A
  hgvsp: ENSP00000364908.3:p.Val512Met
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1585G>A
  hgvsp: ENSP00000417871.2:p.Val529Met
  variant of: http://identifiers.org/hgnc/41994
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val529Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

6-31727606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727606
    reference: chr 6
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1590G>A
  hgvsp: ENST00000375742.3:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1590G>A
  hgvsp: ENST00000375740.3:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1590G>A
  hgvsp: ENST00000493662.2:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.112G>A
  hgvsp: ENST00000498473.2:c.112G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.298G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.561G>A
  hgvsp: ENST00000395853.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1539G>A
  hgvsp: ENST00000375703.3:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1539G>A
  hgvsp: ENST00000423982.2:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1539G>A
  hgvsp: ENST00000375755.3:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*748G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.636G>A
  hgvsp: ENST00000431848.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1539G>A
  hgvsp: ENST00000375750.3:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1590G>A
  hgvsp: ENST00000534153.4:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu530Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

6-31727610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727610
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727610
    reference: chr 6
allele count: 6
allele frequency: 4.965818615198715e-5
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.302C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1543C>T
  hgvsp: ENSP00000364903.3:p.Arg515Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*752C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.640C>T
  hgvsp: ENSP00000416784.2:p.Arg214Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1594C>T
  hgvsp: ENSP00000431693.4:p.Arg532Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.565C>T
  hgvsp: ENSP00000379194.1:p.Arg189Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1543C>T
  hgvsp: ENSP00000364855.3:p.Arg515Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1594C>T
  hgvsp: ENSP00000364892.3:p.Arg532Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1594C>T
  hgvsp: ENSP00000417871.2:p.Arg532Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1543C>T
  hgvsp: ENSP00000406352.2:p.Arg515Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1543C>T
  hgvsp: ENSP00000364908.3:p.Arg515Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.116C>T
  hgvsp: ENSP00000419220.2:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1594C>T
  hgvsp: ENSP00000364894.3:p.Arg532Ter
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg532Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

6-31727611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727611
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727611
    reference: chr 6
allele count: 7
allele frequency: 5.789909015715467e-5
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1544G>A
  hgvsp: ENSP00000364855.3:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.641G>A
  hgvsp: ENSP00000416784.2:p.Arg214Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1595G>A
  hgvsp: ENSP00000417871.2:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1595G>A
  hgvsp: ENSP00000364894.3:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.566G>A
  hgvsp: ENSP00000379194.1:p.Arg189Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1595G>A
  hgvsp: ENSP00000364892.3:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.117G>A
  hgvsp: ENSP00000419220.2:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1544G>A
  hgvsp: ENSP00000406352.2:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1544G>A
  hgvsp: ENSP00000364903.3:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.303G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1595G>A
  hgvsp: ENSP00000431693.4:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1544G>A
  hgvsp: ENSP00000364908.3:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*753G>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg532Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

6-31727616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727616
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727616
    reference: chr 6
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1549G>C
  hgvsp: ENSP00000406352.2:p.Ala517Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.122G>C
  hgvsp: ENSP00000419220.2:p.Ala42Pro
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1600G>C
  hgvsp: ENSP00000364892.3:p.Ala534Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1600G>C
  hgvsp: ENSP00000417871.2:p.Ala534Pro
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1549G>C
  hgvsp: ENSP00000364855.3:p.Ala517Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1600G>C
  hgvsp: ENSP00000364894.3:p.Ala534Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1600G>C
  hgvsp: ENSP00000431693.4:p.Ala534Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.571G>C
  hgvsp: ENSP00000379194.1:p.Ala191Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.646G>C
  hgvsp: ENSP00000416784.2:p.Ala216Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1549G>C
  hgvsp: ENSP00000364908.3:p.Ala517Pro
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*758G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.308G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1549G>C
  hgvsp: ENSP00000364903.3:p.Ala517Pro
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala534Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-31727618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727618
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727618
    reference: chr 6
allele count: 9
allele frequency: 7.43506708082744e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1551T>C
  hgvsp: ENST00000375703.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1602T>C
  hgvsp: ENST00000375740.3:c.1602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*760T>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1602T>C
  hgvsp: ENST00000534153.4:c.1602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1551T>C
  hgvsp: ENST00000375750.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.573T>C
  hgvsp: ENST00000395853.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.648T>C
  hgvsp: ENST00000431848.2:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1551T>C
  hgvsp: ENST00000375755.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1602T>C
  hgvsp: ENST00000493662.2:c.1602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1551T>C
  hgvsp: ENST00000423982.2:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.124T>C
  hgvsp: ENST00000498473.2:c.124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.310T>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1602T>C
  hgvsp: ENST00000375742.3:c.1602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala534Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-31727624-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727624
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727624
    reference: chr 6
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1557A>G
  hgvsp: ENST00000375750.3:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1608A>G
  hgvsp: ENST00000375740.3:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1608A>G
  hgvsp: ENST00000493662.2:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.579A>G
  hgvsp: ENST00000395853.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1608A>G
  hgvsp: ENST00000375742.3:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.130A>G
  hgvsp: ENST00000498473.2:c.130A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.654A>G
  hgvsp: ENST00000431848.2:c.654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1608A>G
  hgvsp: ENST00000534153.4:c.1608A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1557A>G
  hgvsp: ENST00000375703.3:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1557A>G
  hgvsp: ENST00000423982.2:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.316A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1557A>G
  hgvsp: ENST00000375755.3:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*766A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu536Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

6-31727627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727627
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727627
    reference: chr 6
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1560C>T
  hgvsp: ENST00000375703.3:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1611C>T
  hgvsp: ENST00000534153.4:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1560C>T
  hgvsp: ENST00000375750.3:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1560C>T
  hgvsp: ENST00000423982.2:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1611C>T
  hgvsp: ENST00000375742.3:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*769C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1611C>T
  hgvsp: ENST00000375740.3:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.133C>T
  hgvsp: ENST00000498473.2:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.657C>T
  hgvsp: ENST00000431848.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.582C>T
  hgvsp: ENST00000395853.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.319C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1611C>T
  hgvsp: ENST00000493662.2:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1560C>T
  hgvsp: ENST00000375755.3:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr537Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

6-31727628-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727628
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727628
    reference: chr 6
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1612C>G
  hgvsp: ENSP00000431693.4:p.Arg538Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.320C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1561C>G
  hgvsp: ENSP00000364855.3:p.Arg521Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.134C>G
  hgvsp: ENSP00000419220.2:p.Arg46Gly
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1612C>G
  hgvsp: ENSP00000417871.2:p.Arg538Gly
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.583C>G
  hgvsp: ENSP00000379194.1:p.Arg195Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1612C>G
  hgvsp: ENSP00000364894.3:p.Arg538Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*770C>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1561C>G
  hgvsp: ENSP00000364908.3:p.Arg521Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.658C>G
  hgvsp: ENSP00000416784.2:p.Arg220Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1612C>G
  hgvsp: ENSP00000364892.3:p.Arg538Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1561C>G
  hgvsp: ENSP00000406352.2:p.Arg521Gly
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1561C>G
  hgvsp: ENSP00000364903.3:p.Arg521Gly
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg538Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

6-31727628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727628
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727628
    reference: chr 6
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1561C>T
  hgvsp: ENSP00000406352.2:p.Arg521Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*770C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1561C>T
  hgvsp: ENSP00000364903.3:p.Arg521Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1612C>T
  hgvsp: ENSP00000417871.2:p.Arg538Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1561C>T
  hgvsp: ENSP00000364908.3:p.Arg521Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1612C>T
  hgvsp: ENSP00000364892.3:p.Arg538Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.134C>T
  hgvsp: ENSP00000419220.2:p.Arg46Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1612C>T
  hgvsp: ENSP00000364894.3:p.Arg538Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.658C>T
  hgvsp: ENSP00000416784.2:p.Arg220Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.583C>T
  hgvsp: ENSP00000379194.1:p.Arg195Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1561C>T
  hgvsp: ENSP00000364855.3:p.Arg521Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.320C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1612C>T
  hgvsp: ENSP00000431693.4:p.Arg538Ter
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg538Ter
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

6-31727633-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727633
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727633
    reference: chr 6
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1566A>G
  hgvsp: ENST00000423982.2:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.663A>G
  hgvsp: ENST00000431848.2:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1617A>G
  hgvsp: ENST00000534153.4:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1617A>G
  hgvsp: ENST00000375740.3:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1617A>G
  hgvsp: ENST00000493662.2:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1566A>G
  hgvsp: ENST00000375750.3:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.588A>G
  hgvsp: ENST00000395853.1:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1617A>G
  hgvsp: ENST00000375742.3:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1566A>G
  hgvsp: ENST00000375703.3:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.139A>G
  hgvsp: ENST00000498473.2:c.139A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1566A>G
  hgvsp: ENST00000375755.3:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*775A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.325A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val539Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-31727639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727639
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727639
    reference: chr 6
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1623C>T
  hgvsp: ENST00000493662.2:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.145C>T
  hgvsp: ENST00000498473.2:c.145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1572C>T
  hgvsp: ENST00000375703.3:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.594C>T
  hgvsp: ENST00000395853.1:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1623C>T
  hgvsp: ENST00000375740.3:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.331C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1623C>T
  hgvsp: ENST00000534153.4:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1572C>T
  hgvsp: ENST00000375755.3:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*781C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1572C>T
  hgvsp: ENST00000375750.3:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1623C>T
  hgvsp: ENST00000375742.3:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.669C>T
  hgvsp: ENST00000431848.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1572C>T
  hgvsp: ENST00000423982.2:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp541Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

6-31727646-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727646
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727646
    reference: chr 6
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1579T>G
  hgvsp: ENSP00000364908.3:p.Ser527Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1630T>G
  hgvsp: ENSP00000431693.4:p.Ser544Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.338T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.601T>G
  hgvsp: ENSP00000379194.1:p.Ser201Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1579T>G
  hgvsp: ENSP00000364855.3:p.Ser527Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1579T>G
  hgvsp: ENSP00000364903.3:p.Ser527Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.152T>G
  hgvsp: ENSP00000419220.2:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1579T>G
  hgvsp: ENSP00000406352.2:p.Ser527Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.676T>G
  hgvsp: ENSP00000416784.2:p.Ser226Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*788T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1630T>G
  hgvsp: ENSP00000417871.2:p.Ser544Ala
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1630T>G
  hgvsp: ENSP00000364892.3:p.Ser544Ala
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1630T>G
  hgvsp: ENSP00000364894.3:p.Ser544Ala
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser544Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

6-31727652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727652
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727652
    reference: chr 6
allele count: 9
allele frequency: 7.421945869274793e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.607C>T
  hgvsp: ENST00000395853.1:c.607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1585C>T
  hgvsp: ENST00000375703.3:c.1585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.158C>T
  hgvsp: ENST00000498473.2:c.158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.682C>T
  hgvsp: ENST00000431848.2:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.344C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*794C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1585C>T
  hgvsp: ENST00000375750.3:c.1585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1636C>T
  hgvsp: ENST00000493662.2:c.1636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1585C>T
  hgvsp: ENST00000423982.2:c.1585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1636C>T
  hgvsp: ENST00000375740.3:c.1636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1585C>T
  hgvsp: ENST00000375755.3:c.1585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1636C>T
  hgvsp: ENST00000534153.4:c.1636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1636C>T
  hgvsp: ENST00000375742.3:c.1636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu546Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

6-31727657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727657
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727657
    reference: chr 6
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.612C>T
  hgvsp: ENST00000395853.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1641C>T
  hgvsp: ENST00000375740.3:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1641C>T
  hgvsp: ENST00000493662.2:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.163C>T
  hgvsp: ENST00000498473.2:c.163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1590C>T
  hgvsp: ENST00000375703.3:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1590C>T
  hgvsp: ENST00000423982.2:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*799C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.349C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1641C>T
  hgvsp: ENST00000375742.3:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1590C>T
  hgvsp: ENST00000375750.3:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.687C>T
  hgvsp: ENST00000431848.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1590C>T
  hgvsp: ENST00000375755.3:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1641C>T
  hgvsp: ENST00000534153.4:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp547Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-31727670-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727670
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727669
    reference: chr 6
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1656delT
  hgvsp: ENSP00000364892.3:p.Ala553ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.627delT
  hgvsp: ENSP00000379194.1:p.Ala210ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*814delT
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1605delT
  hgvsp: ENSP00000364908.3:p.Ala536ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.178delT
  hgvsp: ENSP00000419220.2:p.Ala61ProfsTer30
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1605delT
  hgvsp: ENSP00000364855.3:p.Ala536ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1605delT
  hgvsp: ENSP00000364903.3:p.Ala536ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.702delT
  hgvsp: ENSP00000416784.2:p.Ala235ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1605delT
  hgvsp: ENSP00000406352.2:p.Ala536ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1656delT
  hgvsp: ENSP00000417871.2:p.Ala553ProfsTer30
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.364delT
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1656delT
  hgvsp: ENSP00000364894.3:p.Ala553ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1656delT
  hgvsp: ENSP00000431693.4:p.Ala553ProfsTer30
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala553ProfsTer30
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CT
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-31727677-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727677
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727677
    reference: chr 6
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1661G>C
  hgvsp: ENSP00000431693.4:p.Ser554Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1610G>C
  hgvsp: ENSP00000364903.3:p.Ser537Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.707G>C
  hgvsp: ENSP00000416784.2:p.Ser236Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1610G>C
  hgvsp: ENSP00000364908.3:p.Ser537Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1610G>C
  hgvsp: ENSP00000364855.3:p.Ser537Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1661G>C
  hgvsp: ENSP00000364894.3:p.Ser554Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1661G>C
  hgvsp: ENSP00000364892.3:p.Ser554Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*819G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.183G>C
  hgvsp: ENSP00000419220.2:p.Ser62Thr
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.632G>C
  hgvsp: ENSP00000379194.1:p.Ser211Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1610G>C
  hgvsp: ENSP00000406352.2:p.Ser537Thr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.369G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1661G>C
  hgvsp: ENSP00000417871.2:p.Ser554Thr
  variant of: http://identifiers.org/hgnc/41994
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser554Thr
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: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-31727692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727692
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727692
    reference: chr 6
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1625A>G
  hgvsp: ENSP00000364903.3:p.Tyr542Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*834A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.647A>G
  hgvsp: ENSP00000379194.1:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1676A>G
  hgvsp: ENSP00000364892.3:p.Tyr559Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.384A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1625A>G
  hgvsp: ENSP00000364908.3:p.Tyr542Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1625A>G
  hgvsp: ENSP00000364855.3:p.Tyr542Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1676A>G
  hgvsp: ENSP00000364894.3:p.Tyr559Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1625A>G
  hgvsp: ENSP00000406352.2:p.Tyr542Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.722A>G
  hgvsp: ENSP00000416784.2:p.Tyr241Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.198A>G
  hgvsp: ENSP00000419220.2:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1676A>G
  hgvsp: ENSP00000431693.4:p.Tyr559Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1676A>G
  hgvsp: ENSP00000417871.2:p.Tyr559Cys
  variant of: http://identifiers.org/hgnc/41994
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr559Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

6-31727694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727694
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727694
    reference: chr 6
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.649G>C
  hgvsp: ENSP00000379194.1:p.Gly217Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*836G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1678G>C
  hgvsp: ENSP00000417871.2:p.Gly560Arg
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1627G>C
  hgvsp: ENSP00000364908.3:p.Gly543Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.1G>C
  hgvsp: ENSP00000420232.1:p.Gly1?
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1678G>C
  hgvsp: ENSP00000431693.4:p.Gly560Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1627G>C
  hgvsp: ENSP00000406352.2:p.Gly543Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1627G>C
  hgvsp: ENSP00000364855.3:p.Gly543Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1678G>C
  hgvsp: ENSP00000364892.3:p.Gly560Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.200G>C
  hgvsp: ENSP00000419220.2:p.Gly68Arg
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1678G>C
  hgvsp: ENSP00000364894.3:p.Gly560Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.724G>C
  hgvsp: ENSP00000416784.2:p.Gly242Arg
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.386G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1627G>C
  hgvsp: ENSP00000364903.3:p.Gly543Arg
  variant of: http://identifiers.org/hgnc/7328
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-31727699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727699
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727699
    reference: chr 6
allele count: 40
allele frequency: 3.322038402763936e-4
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1632C>A
  hgvsp: ENSP00000406352.2:p.Tyr544Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1683C>A
  hgvsp: ENSP00000431693.4:p.Tyr561Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1683C>A
  hgvsp: ENSP00000364892.3:p.Tyr561Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.205C>A
  hgvsp: ENSP00000419220.2:p.Tyr69Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.654C>A
  hgvsp: ENSP00000379194.1:p.Tyr218Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1683C>A
  hgvsp: ENSP00000417871.2:p.Tyr561Ter
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.729C>A
  hgvsp: ENSP00000416784.2:p.Tyr243Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1632C>A
  hgvsp: ENSP00000364908.3:p.Tyr544Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1683C>A
  hgvsp: ENSP00000364894.3:p.Tyr561Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*841C>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1632C>A
  hgvsp: ENSP00000364855.3:p.Tyr544Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.6C>A
  hgvsp: ENSP00000420232.1:p.Tyr2Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1632C>A
  hgvsp: ENSP00000364903.3:p.Tyr544Ter
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.391C>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr561Ter
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

6-31727707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727707
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727707
    reference: chr 6
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*849C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1691C>T
  hgvsp: ENSP00000364892.3:p.Pro564Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.737C>T
  hgvsp: ENSP00000416784.2:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1691C>T
  hgvsp: ENSP00000431693.4:p.Pro564Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1640C>T
  hgvsp: ENSP00000364855.3:p.Pro547Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1640C>T
  hgvsp: ENSP00000406352.2:p.Pro547Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.662C>T
  hgvsp: ENSP00000379194.1:p.Pro221Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.399C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.213C>T
  hgvsp: ENSP00000419220.2:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1640C>T
  hgvsp: ENSP00000364903.3:p.Pro547Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.14C>T
  hgvsp: ENSP00000420232.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1640C>T
  hgvsp: ENSP00000364908.3:p.Pro547Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1691C>T
  hgvsp: ENSP00000364894.3:p.Pro564Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1691C>T
  hgvsp: ENSP00000417871.2:p.Pro564Leu
  variant of: http://identifiers.org/hgnc/41994
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro564Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

6-31727708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727708
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727708
    reference: chr 6
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.738G>C
  hgvsp: ENST00000431848.2:c.738G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1641G>C
  hgvsp: ENST00000375755.3:c.1641G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.663G>C
  hgvsp: ENST00000395853.1:c.663G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1692G>C
  hgvsp: ENST00000375740.3:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*850G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1692G>C
  hgvsp: ENST00000534153.4:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1641G>C
  hgvsp: ENST00000375750.3:c.1641G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.214G>C
  hgvsp: ENST00000498473.2:c.214G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1641G>C
  hgvsp: ENST00000375703.3:c.1641G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1641G>C
  hgvsp: ENST00000423982.2:c.1641G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.400G>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.15G>C
  hgvsp: ENST00000484309.1:c.15G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1692G>C
  hgvsp: ENST00000493662.2:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1692G>C
  hgvsp: ENST00000375742.3:c.1692G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro564Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

6-31727708-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727708
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727708
    reference: chr 6
allele count: 4
allele frequency: 3.296685183048445e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1641G>T
  hgvsp: ENST00000423982.2:c.1641G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.400G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.214G>T
  hgvsp: ENST00000498473.2:c.214G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.15G>T
  hgvsp: ENST00000484309.1:c.15G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.663G>T
  hgvsp: ENST00000395853.1:c.663G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1692G>T
  hgvsp: ENST00000375740.3:c.1692G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1641G>T
  hgvsp: ENST00000375755.3:c.1641G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1641G>T
  hgvsp: ENST00000375703.3:c.1641G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1692G>T
  hgvsp: ENST00000534153.4:c.1692G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1641G>T
  hgvsp: ENST00000375750.3:c.1641G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1692G>T
  hgvsp: ENST00000493662.2:c.1692G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.738G>T
  hgvsp: ENST00000431848.2:c.738G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*850G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1692G>T
  hgvsp: ENST00000375742.3:c.1692G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro564Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-31727709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727709
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727709
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1642C>T
  hgvsp: ENSP00000364855.3:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1642C>T
  hgvsp: ENSP00000364908.3:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*851C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1693C>T
  hgvsp: ENSP00000431693.4:p.Arg565Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.401C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1642C>T
  hgvsp: ENSP00000364903.3:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.215C>T
  hgvsp: ENSP00000419220.2:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1642C>T
  hgvsp: ENSP00000406352.2:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.664C>T
  hgvsp: ENSP00000379194.1:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1693C>T
  hgvsp: ENSP00000364892.3:p.Arg565Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1693C>T
  hgvsp: ENSP00000417871.2:p.Arg565Cys
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1693C>T
  hgvsp: ENSP00000364894.3:p.Arg565Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.739C>T
  hgvsp: ENSP00000416784.2:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.16C>T
  hgvsp: ENSP00000420232.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg565Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

6-31727710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727710
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727710
    reference: chr 6
allele count: 7
allele frequency: 5.769008884273682e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1643G>A
  hgvsp: ENSP00000364908.3:p.Arg548His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.740G>A
  hgvsp: ENSP00000416784.2:p.Arg247His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1643G>A
  hgvsp: ENSP00000364855.3:p.Arg548His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1643G>A
  hgvsp: ENSP00000364903.3:p.Arg548His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1694G>A
  hgvsp: ENSP00000417871.2:p.Arg565His
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1694G>A
  hgvsp: ENSP00000431693.4:p.Arg565His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.402G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.665G>A
  hgvsp: ENSP00000379194.1:p.Arg222His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1694G>A
  hgvsp: ENSP00000364894.3:p.Arg565His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.216G>A
  hgvsp: ENSP00000419220.2:p.Arg73His
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*852G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1694G>A
  hgvsp: ENSP00000364892.3:p.Arg565His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.17G>A
  hgvsp: ENSP00000420232.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1643G>A
  hgvsp: ENSP00000406352.2:p.Arg548His
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg565His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

6-31727710-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727710
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727710
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1694G>T
  hgvsp: ENSP00000364894.3:p.Arg565Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1643G>T
  hgvsp: ENSP00000364855.3:p.Arg548Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.216G>T
  hgvsp: ENSP00000419220.2:p.Arg73Leu
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.665G>T
  hgvsp: ENSP00000379194.1:p.Arg222Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1643G>T
  hgvsp: ENSP00000406352.2:p.Arg548Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*852G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1694G>T
  hgvsp: ENSP00000417871.2:p.Arg565Leu
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1694G>T
  hgvsp: ENSP00000364892.3:p.Arg565Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.740G>T
  hgvsp: ENSP00000416784.2:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1694G>T
  hgvsp: ENSP00000431693.4:p.Arg565Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1643G>T
  hgvsp: ENSP00000364903.3:p.Arg548Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.17G>T
  hgvsp: ENSP00000420232.1:p.Arg6Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1643G>T
  hgvsp: ENSP00000364908.3:p.Arg548Leu
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.402G>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg565Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

6-31727746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727746
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727746
    reference: chr 6
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1730A>G
  hgvsp: ENSP00000364894.3:p.Asn577Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1730A>G
  hgvsp: ENSP00000431693.4:p.Asn577Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.252A>G
  hgvsp: ENSP00000419220.2:p.Asn85Ser
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1679A>G
  hgvsp: ENSP00000406352.2:p.Asn560Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.438A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.776A>G
  hgvsp: ENSP00000416784.2:p.Asn259Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1679A>G
  hgvsp: ENSP00000364855.3:p.Asn560Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1730A>G
  hgvsp: ENSP00000364892.3:p.Asn577Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.701A>G
  hgvsp: ENSP00000379194.1:p.Asn234Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.53A>G
  hgvsp: ENSP00000420232.1:p.Asn18Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1679A>G
  hgvsp: ENSP00000364903.3:p.Asn560Ser
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*888A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1730A>G
  hgvsp: ENSP00000417871.2:p.Asn577Ser
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1679A>G
  hgvsp: ENSP00000364908.3:p.Asn560Ser
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn577Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

6-31727749-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727749
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727749
    reference: chr 6
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1733G>T
  hgvsp: ENSP00000364892.3:p.Gly578Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.255G>T
  hgvsp: ENSP00000419220.2:p.Gly86Val
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1682G>T
  hgvsp: ENSP00000364855.3:p.Gly561Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1733G>T
  hgvsp: ENSP00000417871.2:p.Gly578Val
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.704G>T
  hgvsp: ENSP00000379194.1:p.Gly235Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.779G>T
  hgvsp: ENSP00000416784.2:p.Gly260Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1733G>T
  hgvsp: ENSP00000431693.4:p.Gly578Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1733G>T
  hgvsp: ENSP00000364894.3:p.Gly578Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1682G>T
  hgvsp: ENSP00000364903.3:p.Gly561Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*891G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1682G>T
  hgvsp: ENSP00000364908.3:p.Gly561Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1682G>T
  hgvsp: ENSP00000406352.2:p.Gly561Val
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.441G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.56G>T
  hgvsp: ENSP00000420232.1:p.Gly19Val
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly578Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS

6-31727754-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727754
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727754
    reference: chr 6
allele count: 504
allele frequency: 4.28360162504887e-3
allele num: 117658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+2T>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+2T>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+2T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+2T>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 4.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: c.1736+2T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-31727761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727761
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727761
    reference: chr 6
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+9A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+9A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+9A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+9A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-31727766-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727766
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727767
    reference: chr 6
allele count: 3
allele frequency: 2.496546444085682e-5
allele num: 120166
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+17dupG
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+17dupG
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+17dupG
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+17dupG
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-31727766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727766
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727766
    reference: chr 6
allele count: 52
allele frequency: 4.327347169748514e-4
allele num: 120166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+14C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+14C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+14C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+14C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

6-31727769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727769
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727769
    reference: chr 6
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+17G>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+17G>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+17G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+17G>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-31727770-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727770
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727770
    reference: chr 6
allele count: 586
allele frequency: 7.008731013036718e-3
allele num: 83610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+18T>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+18T>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+18T>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+18T>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 3.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-31727773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727773
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727773
    reference: chr 6
allele count: 536
allele frequency: 4.602122471408456e-3
allele num: 116468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+21A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+21A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+21A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+21A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 4.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 2.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
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: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

6-31727775-GAATAGACATGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727775
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727764
    reference: chr 6
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: GAATAGACATGA
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

6-31727776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727776
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727776
    reference: chr 6
allele count: 261
allele frequency: 2.184795164989704e-3
allele num: 119462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+24A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+24A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+24A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+24A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

6-31727778-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727778
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727778
    reference: chr 6
allele count: 4
allele frequency: 3.353847701775862e-5
allele num: 119266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+26T>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+26T>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+26T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+26T>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

6-31727783-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727783
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727783
    reference: chr 6
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+31A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+31A>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+31A>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+31A>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

6-31727789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727789
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727789
    reference: chr 6
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+37G>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+37G>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+37G>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+37G>A
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

6-31727791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727791
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727791
    reference: chr 6
allele count: 3
allele frequency: 2.503045371869107e-5
allele num: 119854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+39C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+39C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+39C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+39C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

6-31727792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727792
    reference: chr 6
allele count: 3
allele frequency: 2.490453262493774e-5
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+40C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+40C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+40C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+40C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-31727800-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727800
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727800
    reference: chr 6
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.782+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*894+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1736+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1685+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.707+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.59+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1736+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1685+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1736+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1685+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1736+48T>A
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.444+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1685+48T>A
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.258+48T>A
  variant of: http://identifiers.org/hgnc/41994
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/6-31727822-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727822
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727822
    reference: chr 6
allele count: 4850
allele frequency: 4.106063428097326e-2
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-45A>C
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-45A>C
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-45A>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-45A>C
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 7.5e0
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 6.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 8.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
num of homozygotes: 201
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

6-31727822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727822
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727822
    reference: chr 6
allele count: 87
allele frequency: 7.365515840092111e-4
allele num: 118118
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-45A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-45A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-45A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-45A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

6-31727833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727833
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727833
    reference: chr 6
allele count: 3
allele frequency: 2.559290223511346e-5
allele num: 117220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-34C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-34C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-34C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-34C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

6-31727842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727842
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727842
    reference: chr 6
allele count: 1
allele frequency: 8.576770674305711e-6
allele num: 116594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-25C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-25C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-25C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-25C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

6-31727844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727844
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727844
    reference: chr 6
allele count: 1
allele frequency: 8.566337719298245e-6
allele num: 116736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-23A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-23A>G
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-23A>G
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-23A>G
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-31727856-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727856
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727856
    reference: chr 6
allele count: 32
allele frequency: 2.752546105147261e-4
allele num: 116256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-11G>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-11G>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-11G>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-11G>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

6-31727859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727859
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727859
    reference: chr 6
allele count: 1
allele frequency: 8.60303859323113e-6
allele num: 116238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1686-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*895-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.259-8C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1737-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1686-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1737-8C>T
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.783-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1737-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1737-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.445-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1686-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.60-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1686-8C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.708-8C>T
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1737-8C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

6-31727868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727868
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727868
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 116212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1687C>T
  hgvsp: ENSP00000364855.3:p.His563Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1738C>T
  hgvsp: ENSP00000431693.4:p.His580Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.784C>T
  hgvsp: ENSP00000416784.2:p.His262Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1738C>T
  hgvsp: ENSP00000364894.3:p.His580Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1687C>T
  hgvsp: ENSP00000364903.3:p.His563Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*896C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.709C>T
  hgvsp: ENSP00000379194.1:p.His237Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1738C>T
  hgvsp: ENSP00000417871.2:p.His580Tyr
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.260C>T
  hgvsp: ENSP00000419220.2:p.His88Tyr
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.61C>T
  hgvsp: ENSP00000420232.1:p.His21Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.446C>T
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1687C>T
  hgvsp: ENSP00000364908.3:p.His563Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1687C>T
  hgvsp: ENSP00000406352.2:p.His563Tyr
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1738C>T
  hgvsp: ENSP00000364892.3:p.His580Tyr
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His580Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

6-31727870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31727870
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31727870
    reference: chr 6
allele count: 2
allele frequency: 1.719838335196492e-5
allele num: 116290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364894
  ensembl transcript: ENST00000375742
  gene symbol: MSH5
  hgvsc: ENST00000375742.3:c.1740T>C
  hgvsp: ENST00000375742.3:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000417871
  ensembl transcript: ENST00000493662
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000493662.2:c.1740T>C
  hgvsp: ENST00000493662.2:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000406352
  ensembl transcript: ENST00000423982
  gene symbol: MSH5
  hgvsc: ENST00000423982.2:c.1689T>C
  hgvsp: ENST00000423982.2:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000379194
  ensembl transcript: ENST00000395853
  gene symbol: MSH5
  hgvsc: ENST00000395853.1:c.711T>C
  hgvsp: ENST00000395853.1:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204410
  ensembl transcript: ENST00000494646
  gene symbol: MSH5
  hgvsc: ENST00000494646.1:n.448T>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000420232
  ensembl transcript: ENST00000484309
  gene symbol: MSH5
  hgvsc: ENST00000484309.1:c.63T>C
  hgvsp: ENST00000484309.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364855
  ensembl transcript: ENST00000375703
  gene symbol: MSH5
  hgvsc: ENST00000375703.3:c.1689T>C
  hgvsp: ENST00000375703.3:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000416784
  ensembl transcript: ENST00000431848
  gene symbol: MSH5
  hgvsc: ENST00000431848.2:c.786T>C
  hgvsp: ENST00000431848.2:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364903
  ensembl transcript: ENST00000375750
  gene symbol: MSH5
  hgvsc: ENST00000375750.3:c.1689T>C
  hgvsp: ENST00000375750.3:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364908
  ensembl transcript: ENST00000375755
  gene symbol: MSH5
  hgvsc: ENST00000375755.3:c.1689T>C
  hgvsp: ENST00000375755.3:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000431693
  ensembl transcript: ENST00000534153
  gene symbol: MSH5
  hgvsc: ENST00000534153.4:c.1740T>C
  hgvsp: ENST00000534153.4:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000419648
  ensembl transcript: ENST00000463144
  gene symbol: MSH5
  hgvsc: ENST00000463144.1:c.*898T>C
  variant of: http://identifiers.org/hgnc/7328
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255152
  ensembl protein: ENSP00000419220
  ensembl transcript: ENST00000498473
  gene symbol: MSH5-SAPCD1
  hgvsc: ENST00000498473.2:c.262T>C
  hgvsp: ENST00000498473.2:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41994
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204410
  ensembl protein: ENSP00000364892
  ensembl transcript: ENST00000375740
  gene symbol: MSH5
  hgvsc: ENST00000375740.3:c.1740T>C
  hgvsp: ENST00000375740.3:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7328
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His580His
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.217433649866082e-4
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.258527e6

QD
type: SiteQuality
SIO_000300: 9.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 6.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4589
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6815
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2766
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3753
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6409
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
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: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643007360672976e-5
allele num: 60864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 1.24861e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeDepth
all individuals: 1487
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.229493e6

FS
type: SiteQuality
SIO_000300: 2.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeDepth
all individuals: 4818
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6369
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5542913985514e-5
allele num: 64338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.292e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 3.825e0

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 2.772714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.186e0

GenotypeDepth
all individuals: 3060
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 641
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9208
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64382
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 5.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.978e0

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 2.773824e6

GenotypeDepth
all individuals: 487
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5512
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55077228459773e-5
allele num: 64484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.105e0

FS
type: SiteQuality
SIO_000300: 6.198e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 2.782442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeDepth
all individuals: 1153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1948
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 237
bin: 9.25e1
variant carriers: 6

GenotypeDepth
all individuals: 387
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variant carriers: 2

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

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 9214
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 4579
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 17
allele frequency: 1.473392269024094e-3
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.153647355628711e-4
allele num: 65006
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.024701356549909e-4
allele num: 9878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 1.592e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.820374e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeDepth
all individuals: 244
bin: 9.25e1
variant carriers: 13

GenotypeDepth
all individuals: 1137
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variant carriers: 4

GenotypeDepth
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variant carriers: 2

GenotypeDepth
all individuals: 1935
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variant carriers: 2

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 3

GenotypeDepth
all individuals: 3409
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variant carriers: 5

GenotypeQuality
all individuals: 119
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GenotypeQuality
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GenotypeQuality
all individuals: 99
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 205

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.931574405128837e-4
allele num: 16222
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 5.039306591413022e-4
allele num: 9922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 175
allele frequency: 2.686933824658376e-3
allele num: 65130
num of homozygotes: 4

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.572639225181598e-3
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 2.833311e6

FS
type: SiteQuality
SIO_000300: 2.271e0

QD
type: SiteQuality
SIO_000300: 1.192e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeDepth
all individuals: 1130
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2162
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 9924
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.216e0

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 2.825405e6

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

GenotypeDepth
all individuals: 330
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 385
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variant carriers: 1

GenotypeDepth
all individuals: 6616
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variant carriers: 0

GenotypeDepth
all individuals: 491
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 70
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19790
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variant carriers: 0

GenotypeQuality
all individuals: 9060
bin: 9.75e1
variant carriers: 17

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.993375858684985e-4
allele num: 65216
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.012653143201446e-4
allele num: 9958
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.828391e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

GenotypeDepth
all individuals: 866
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5574
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variant carriers: 0

GenotypeDepth
all individuals: 6623
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variant carriers: 0

GenotypeDepth
all individuals: 485
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variant carriers: 2

GenotypeDepth
all individuals: 4820
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variant carriers: 0

GenotypeDepth
all individuals: 230
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variant carriers: 0

GenotypeDepth
all individuals: 1948
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GenotypeQuality
all individuals: 20150
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 120
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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bin: 8.75e1
variant carriers: 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: 10024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056795255853763e-5
allele num: 65428
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -8.156e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

DP
type: SiteQuality
SIO_000300: 2.835543e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
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variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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
all individuals: 53
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053808098699078e-5
allele num: 65492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.433978337592795e-4
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 2.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

DP
type: SiteQuality
SIO_000300: 2.837412e6

VQSLOD
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SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 9762
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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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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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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Other
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VQSLOD
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QD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 66112
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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ClippingRankSum
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VQSLOD
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FS
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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DP
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VQSLOD
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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MQ
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FS
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VQSLOD
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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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East Asian
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African
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European (Finnish)
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South Asian
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MQ
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VQSLOD
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MQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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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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ReadPosRankSum
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QD
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DP
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VQSLOD
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MQ
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GenotypeDepth
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African
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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East Asian
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African
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FS
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VQSLOD
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MQ
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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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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501907422426482e-5
allele num: 66582
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.350905106421302e-4
allele num: 66622
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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Latino
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FS
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DP
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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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Latino
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European (Finnish)
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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MQRankSum
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 4

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

African
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allele count: 8
allele frequency: 7.89110278161373e-4
allele num: 10138
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 31
allele frequency: 4.688303439097426e-4
allele num: 66122
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -6.645999999999999e1

FS
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SIO_000300: 1.1683e2

DP
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SIO_000300: 2.868972e6

QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.4e-3

BaseQRankSum
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SIO_000300: -2.435e0

ClippingRankSum
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SIO_000300: 2.18e0

MQRankSum
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SIO_000300: 6.8e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

East Asian
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allele count: 1
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allele num: 8652
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

European (Finnish)
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South Asian
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East Asian
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Latino
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African
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Other
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FS
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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FS
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 3.25e1
variant carriers: 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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
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: 8652
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 2.86364e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

FS
type: SiteQuality
SIO_000300: 7.714e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 2.863833e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 10396
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 2.863833e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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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
all individuals: 37
bin: 5.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.085e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.946e0

MQ
type: SiteQuality
SIO_000300: 5.793e1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

DP
type: SiteQuality
SIO_000300: 2.860479e6

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.723e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.051e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.860229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 1.5765e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 35

GenotypeDepth
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variant carriers: 48

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 329
allele frequency: 5.087523968577968e-3
allele num: 64668
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 9.195402298850575e-3
allele num: 870
num of homozygotes: 0

European (Finnish)
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allele count: 81
allele frequency: 1.349100599600266e-2
allele num: 6004
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.493449781659388e-4
allele num: 11450
num of homozygotes: 0

East Asian
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allele count: 16
allele frequency: 1.870032725572698e-3
allele num: 8556
num of homozygotes: 0

African
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allele count: 64
allele frequency: 6.647278770253427e-3
allele num: 9628
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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SIO_000300: -2.368e2

ClippingRankSum
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SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.59e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Finnish)
type: Population
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Other
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European (Non-Finnish)
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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South Asian
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East Asian
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European (Finnish)
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allele num: 6542
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Latino
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MQ
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MQRankSum
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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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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.661480832552941e-4
allele num: 66206
num of homozygotes: 0

Latino
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allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

African
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allele frequency: 3.8e-3
allele num: 10000
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Other
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South Asian
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allele frequency: 1.218620521569583e-4
allele num: 16412
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQ
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SIO_000300: 5.805e1

MQRankSum
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SIO_000300: 6.72e-1

DP
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InbreedingCoeff
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SIO_000300: 3.0e-3

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: 3.05e0

MQRankSum
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DP
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MQ
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ReadPosRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: 9.0e-4

BaseQRankSum
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SIO_000300: -7.55e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 20
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allele num: 6336
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European (Finnish)
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allele count: 290
allele frequency: 7.375381485249237e-2
allele num: 3932
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European (Non-Finnish)
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allele count: 179
allele frequency: 3.730099191464533e-3
allele num: 47988
num of homozygotes: 0

East Asian
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allele count: 39
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Other
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African
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South Asian
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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African
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European (Non-Finnish)
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allele frequency: 2.416806097787693e-3
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Latino
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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European (Non-Finnish)
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allele count: 0
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African
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European (Finnish)
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South Asian
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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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BaseQRankSum
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DP
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SIO_000300: 2.105913e6

QD
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.957e0

GenotypeDepth
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variant carriers: 57

GenotypeDepth
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variant carriers: 37

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 21

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 15

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 109

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 8433
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variant carriers: 7

GenotypeQuality
all individuals: 4224
bin: 8.25e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 217
allele frequency: 3.755624783662167e-2
allele num: 5778
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.338091932514412e-4
allele num: 66266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 5.2281e1

VQSLOD
type: SiteQuality
SIO_000300: -1.485e1

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 2.107406e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.393743257820927e-4
allele num: 5562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
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: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
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SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 3.4204e1

QD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.674e0

DP
type: SiteQuality
SIO_000300: 2.119077e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.983e0

DP
type: SiteQuality
SIO_000300: 2.136325e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.241000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

FS
type: SiteQuality
SIO_000300: 2.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 11550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.000200040008002e-4
allele num: 9998
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.23e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
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SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 2.948e0

DP
type: SiteQuality
SIO_000300: 2.133613e6

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeDepth
all individuals: 4627
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
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variant carriers: 0

GenotypeDepth
all individuals: 167
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GenotypeDepth
all individuals: 93
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 844
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 776
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

ClippingRankSum
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SIO_000300: -3.9e-1

MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.13478e6

FS
type: SiteQuality
SIO_000300: 2.61e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.253e0

VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.753e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 8679
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.136837e6

VQSLOD
type: SiteQuality
SIO_000300: -9.696e-1

QD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

FS
type: SiteQuality
SIO_000300: 1.202e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeDepth
all individuals: 2163
bin: 8.75e1
variant carriers: 98

GenotypeDepth
all individuals: 3187
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variant carriers: 40

GenotypeDepth
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bin: 3.75e1
variant carriers: 44

GenotypeDepth
all individuals: 3003
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variant carriers: 78

GenotypeDepth
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variant carriers: 3235

GenotypeDepth
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variant carriers: 34

GenotypeDepth
all individuals: 3955
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variant carriers: 60

GenotypeQuality
all individuals: 901
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 10

GenotypeQuality
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bin: 3.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 5

GenotypeQuality
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bin: 4.75e1
variant carriers: 13

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 9.75e1
variant carriers: 4601

GenotypeQuality
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bin: 7.25e1
variant carriers: 8

GenotypeQuality
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bin: 4.25e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 697
bin: 8.25e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 31
allele frequency: 4.68702751738736e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 649
allele frequency: 6.34532655455612e-2
allele num: 10228
num of homozygotes: 22

Other
type: Population
allele count: 26
allele frequency: 2.954545454545454e-2
allele num: 880
num of homozygotes: 3

East Asian
type: Population
allele count: 1199
allele frequency: 1.389017608897127e-1
allele num: 8632
num of homozygotes: 93

Latino
type: Population
allele count: 498
allele frequency: 4.311688311688312e-2
allele num: 11550
num of homozygotes: 15

South Asian
type: Population
allele count: 862
allele frequency: 5.996104618809126e-2
allele num: 14376
num of homozygotes: 42

European (Non-Finnish)
type: Population
allele count: 1585
allele frequency: 2.407424283848233e-2
allele num: 65838
num of homozygotes: 26

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 4.28538e6

GenotypeDepth
all individuals: 4435
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 378
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 987
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GenotypeQuality
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variant carriers: 86

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 1.215103739481758e-3
allele num: 65838
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.561e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 4.28538e6

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

GenotypeDepth
all individuals: 2473
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2556
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variant carriers: 0

GenotypeDepth
all individuals: 3158
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variant carriers: 0

GenotypeDepth
all individuals: 1567
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 130
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1032
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GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 388
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GenotypeQuality
all individuals: 549
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3271
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variant carriers: 0

GenotypeQuality
all individuals: 748
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variant carriers: 0

GenotypeQuality
all individuals: 47347
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13710
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046551303923958e-5
allele num: 65648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.06e1

MQ
type: SiteQuality
SIO_000300: 5.888e1

DP
type: SiteQuality
SIO_000300: 4.030936e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.761e0

FS
type: SiteQuality
SIO_000300: 1.167e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

GenotypeDepth
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3773
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1971
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
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: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.04e0

VQSLOD
type: SiteQuality
SIO_000300: -3.827e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.671e1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 4.028329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeDepth
all individuals: 4294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4848
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 197
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GenotypeQuality
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GenotypeQuality
all individuals: 1030
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
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SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.689e1

VQSLOD
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

FS
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

DP
type: SiteQuality
SIO_000300: 4.028248e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
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GenotypeQuality
all individuals: 337
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GenotypeQuality
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GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 752
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GenotypeQuality
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GenotypeQuality
all individuals: 552
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 667
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GenotypeQuality
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GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 968
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variant carriers: 0

GenotypeQuality
all individuals: 465
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variant carriers: 0

GenotypeQuality
all individuals: 47344
bin: 9.75e1
variant carriers: 32

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.129324320190867e-4
allele num: 65386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 4.028398e6

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeDepth
all individuals: 4852
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2175
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2318
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4272
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3773
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10449
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2196
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1644
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47342
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.025813e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.525e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 2.019e0

VQSLOD
type: SiteQuality
SIO_000300: -2.305e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeDepth
all individuals: 4726
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2476
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2649
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3476
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2203
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2196
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1801
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4272
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3774
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10448
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2708
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47342
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 968
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
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: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.026201e6

QD
type: SiteQuality
SIO_000300: 1.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -2.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4