{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294957", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168220[alleleid]", "alleleId": 168220, "preferredName": "NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159368", "RCV": [ "RCV003231268" ], "variationId": 159368 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176696724C>T?assembly=hg19", "id": "chr5:g.176696724C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177269723C>T?assembly=hg38", "id": "chr5:g.177269723C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784147", "rs": 587784147 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177269723, "referenceAllele": "C", "start": 177269722 } ], "hgvs": [ "NC_000005.10:g.177269723C>T", "CM000667.2:g.177269723C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176696724, "referenceAllele": "C", "start": 176696723 } ], "hgvs": [ "NC_000005.9:g.176696724C>T", "CM000667.1:g.176696724C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176629330, "referenceAllele": "C", "start": 176629329 } ], "hgvs": [ "NC_000005.8:g.176629330C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 141645, "referenceAllele": "C", "start": 141644 } ], "hgvs": [ "NG_009821.1:g.141645C>T", "LRG_512:g.141645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4807, "referenceAllele": "C", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.4552C>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Gln1518Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Gln1518_Lys2405delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.4552C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Gln1518Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Gln1518_Lys2405delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 4778, "referenceAllele": "C", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.4552C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Gln1518Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Gln1518_Lys2405delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.6:c.67C>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.2:p.Gln23Ter", "hgvsWellDefined": "ENSP00000424024.2:p.Gln23_Lys910delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825500" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.6:c.67C>T" ], "proteinEffect": { "hgvs": "ENSP00000425120.2:p.Gln23Ter", "hgvsWellDefined": "ENSP00000425120.2:p.Gln23_Lys910delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825535" }, { "coordinates": [ { "allele": "T", "end": 5008, "referenceAllele": "C", "start": 5007 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.5008C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "C", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.4552C>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Gln1518Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Gln1518_Lys2405delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "+", "endIntronOffset": 2005, "referenceAllele": "C", "start": 258, "startIntronDirection": "+", "startIntronOffset": 2004 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687095.1:n.258+2005C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830907" }, { "coordinates": [ { "allele": "T", "end": 5134, "referenceAllele": "C", "start": 5133 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.5116C>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Gln1706Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Gln1706_Lys2593delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 4822, "referenceAllele": "C", "start": 4821 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.4822C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 4755, "referenceAllele": "C", "start": 4754 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.4552C>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Gln1518Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Gln1518_Lys2405delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 5572, "referenceAllele": "C", "start": 5571 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.5572C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "C", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000692024.1:n.2344C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833502" }, { "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "C", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5425C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Gln1809Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5425C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5425C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Gln1809Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Gln1809Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.4618C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Gln1540Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 4778, "referenceAllele": "C", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.4618C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Gln1540Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 5470, "referenceAllele": "C", "start": 5469 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5425C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Gln1809Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.5:c.67C>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.1:p.Gln23Ter", "hgvsWellDefined": "ENSP00000424024.1:p.Gln23Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS335467" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.5:c.67C>T" ], "proteinEffect": { "hgvs": "ENSP00000425120.1:p.Gln23Ter", "hgvsWellDefined": "ENSP00000425120.1:p.Gln23_Val34del" }, "referenceSequence": "http://reg.genome.network/refseq/RS339154" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000515735.1:c.67C>T" ], "proteinEffect": { "hgvs": "ENSP00000423048.1:p.Gln23Ter", "hgvsWellDefined": "ENSP00000423048.1:p.Gln23Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS344890" }, { "@id": "http://reg.genome.network/allele/PA294959", "coordinates": [ { "allele": "T", "end": 5563, "referenceAllele": "C", "start": 5562 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5425C>T", "LRG_512t1:c.5425C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Gln1809Ter", "hgvsWellDefined": "NP_071900.2:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 4778, "referenceAllele": "C", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.4618C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Gln1540Ter", "hgvsWellDefined": "NP_758859.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 5572, "referenceAllele": "C", "start": 5571 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Gln1809Ter", "hgvsWellDefined": "XP_005266016.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Gln1540Ter", "hgvsWellDefined": "XP_005266017.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "C", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Gln1540Ter", "hgvsWellDefined": "XP_005266018.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.919C>T" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Gln307Ter", "hgvsWellDefined": "XP_005266019.1:p.Gln307_Lys1194delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "T", "end": 5494, "referenceAllele": "C", "start": 5493 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Gln1809Ter", "hgvsWellDefined": "XP_011532912.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 5465, "referenceAllele": "C", "start": 5464 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Gln1809Ter", "hgvsWellDefined": "XP_011532913.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 5208, "referenceAllele": "C", "start": 5207 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.5005C>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Gln1669Ter", "hgvsWellDefined": "XP_011532914.1:p.Gln1669_Lys2556delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 4560, "referenceAllele": "C", "start": 4559 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.4369C>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Gln1457Ter", "hgvsWellDefined": "XP_011532915.1:p.Gln1457_Lys2344delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.1159C>T" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Gln387Ter", "hgvsWellDefined": "XP_011532919.1:p.Gln387_Lys1274delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.4618C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Gln1540Ter", "hgvsWellDefined": "NP_001352613.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 5572, "referenceAllele": "C", "start": 5571 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Gln1809Ter", "hgvsWellDefined": "XP_024301918.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 5547, "referenceAllele": "C", "start": 5546 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Gln1809Ter", "hgvsWellDefined": "XP_024301919.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 5501, "referenceAllele": "C", "start": 5500 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Gln1809Ter", "hgvsWellDefined": "XP_024301920.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 6196, "referenceAllele": "C", "start": 6195 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5425C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Gln1809Ter", "hgvsWellDefined": "XP_024301921.1:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 5213, "referenceAllele": "C", "start": 5212 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.5005C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Gln1669Ter", "hgvsWellDefined": "XP_024301922.1:p.Gln1669_Lys2556delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 4911, "referenceAllele": "C", "start": 4910 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Gln1540Ter", "hgvsWellDefined": "XP_024301923.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 4758, "referenceAllele": "C", "start": 4757 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Gln1540Ter", "hgvsWellDefined": "XP_024301924.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 4802, "referenceAllele": "C", "start": 4801 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Gln1540Ter", "hgvsWellDefined": "XP_024301926.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 4596, "referenceAllele": "C", "start": 4595 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.4369C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Gln1457Ter", "hgvsWellDefined": "XP_024301927.1:p.Gln1457_Lys2344delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 4273, "referenceAllele": "C", "start": 4272 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.1159C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Gln387Ter", "hgvsWellDefined": "XP_024301930.1:p.Gln387_Lys1274delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.919C>T" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Gln307Ter", "hgvsWellDefined": "XP_024301931.1:p.Gln307_Lys1194delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA294959", "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "C", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5425C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Gln1809Ter", "hgvsWellDefined": "NP_071900.2:p.Gln1809_Lys2696delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5425C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5425C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Gln1809Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Gln1809Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4842, "referenceAllele": "C", "start": 4841 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.4618C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Gln1540Ter", "hgvsWellDefined": "NP_758859.1:p.Gln1540_Lys2427delinsAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }