{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10602934", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4992303", "active": true, "id": "COSM4992303" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4992304", "active": true, "id": "COSM4992304" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264205[alleleid]", "alleleId": 264205, "preferredName": "NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279857", "RCV": [ "RCV000385095", "RCV003231426" ], "variationId": 279857 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176700744C>T?assembly=hg19", "id": "chr5:g.176700744C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177273743C>T?assembly=hg38", "id": "chr5:g.177273743C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886041218", "rs": 886041218 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177273743, "referenceAllele": "C", "start": 177273742 } ], "hgvs": [ "NC_000005.10:g.177273743C>T", "CM000667.2:g.177273743C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176700744, "referenceAllele": "C", "start": 176700743 } ], "hgvs": [ "NC_000005.9:g.176700744C>T", "CM000667.1:g.176700744C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176633350, "referenceAllele": "C", "start": 176633349 } ], "hgvs": [ "NC_000005.8:g.176633350C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 145665, "referenceAllele": "C", "start": 145664 } ], "hgvs": [ "NG_009821.1:g.145665C>T", "LRG_512:g.145665C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4963, "referenceAllele": "C", "start": 4962 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.4708C>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Arg1570Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Arg1570_Lys2405delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 4875, "referenceAllele": "C", "start": 4874 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.4708C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Arg1570Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Arg1570_Lys2405delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 4934, "referenceAllele": "C", "start": 4933 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.4708C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Arg1570Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Arg1570_Lys2405delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.6:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.2:p.Arg75Ter", "hgvsWellDefined": "ENSP00000424024.2:p.Arg75_Lys910delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825500" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.6:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000425120.2:p.Arg75Ter", "hgvsWellDefined": "ENSP00000425120.2:p.Arg75_Lys910delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825535" }, { "coordinates": [ { "allele": "T", "end": 5164, "referenceAllele": "C", "start": 5163 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.5164C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 4893, "referenceAllele": "C", "start": 4892 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.4708C>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Arg1570Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Arg1570_Lys2405delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687095.1:n.330C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830907" }, { "coordinates": [ { "allele": "T", "end": 5290, "referenceAllele": "C", "start": 5289 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.5272C>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Arg1758Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Arg1758_Lys2593delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 4978, "referenceAllele": "C", "start": 4977 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.4978C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 4911, "referenceAllele": "C", "start": 4910 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.4708C>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Arg1570Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Arg1570_Lys2405delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 5728, "referenceAllele": "C", "start": 5727 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.5728C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000692024.1:n.2500C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833502" }, { "coordinates": [ { "allele": "T", "end": 5778, "referenceAllele": "C", "start": 5777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5581C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1861Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5581C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5581C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1861Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1861Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4875, "referenceAllele": "C", "start": 4874 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.4774C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Arg1592Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 4934, "referenceAllele": "C", "start": 4933 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.4774C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Arg1592Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 5626, "referenceAllele": "C", "start": 5625 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5581C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1861Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.5:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.1:p.Arg75Ter", "hgvsWellDefined": "ENSP00000424024.1:p.Arg75Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS335467" }, { "@id": "http://reg.genome.network/allele/PA645437876", "coordinates": [ { "allele": "T", "end": 5719, "referenceAllele": "C", "start": 5718 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5581C>T", "LRG_512t1:c.5581C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1861Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 4934, "referenceAllele": "C", "start": 4933 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.4774C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1592Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 5728, "referenceAllele": "C", "start": 5727 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Arg1861Ter", "hgvsWellDefined": "XP_005266016.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 4875, "referenceAllele": "C", "start": 4874 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.4774C>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Arg1592Ter", "hgvsWellDefined": "XP_005266017.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 4893, "referenceAllele": "C", "start": 4892 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.4774C>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Arg1592Ter", "hgvsWellDefined": "XP_005266018.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.1075C>T" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Arg359Ter", "hgvsWellDefined": "XP_005266019.1:p.Arg359_Lys1194delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "T", "end": 5650, "referenceAllele": "C", "start": 5649 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Arg1861Ter", "hgvsWellDefined": "XP_011532912.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 5621, "referenceAllele": "C", "start": 5620 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Arg1861Ter", "hgvsWellDefined": "XP_011532913.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 5364, "referenceAllele": "C", "start": 5363 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.5161C>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Arg1721Ter", "hgvsWellDefined": "XP_011532914.1:p.Arg1721_Lys2556delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 4716, "referenceAllele": "C", "start": 4715 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.4525C>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Arg1509Ter", "hgvsWellDefined": "XP_011532915.1:p.Arg1509_Lys2344delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Arg439Ter", "hgvsWellDefined": "XP_011532919.1:p.Arg439_Lys1274delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "T", "end": 4875, "referenceAllele": "C", "start": 4874 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.4774C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Arg1592Ter", "hgvsWellDefined": "NP_001352613.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 5728, "referenceAllele": "C", "start": 5727 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Arg1861Ter", "hgvsWellDefined": "XP_024301918.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 5703, "referenceAllele": "C", "start": 5702 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Arg1861Ter", "hgvsWellDefined": "XP_024301919.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 5657, "referenceAllele": "C", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Arg1861Ter", "hgvsWellDefined": "XP_024301920.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 6352, "referenceAllele": "C", "start": 6351 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5581C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Arg1861Ter", "hgvsWellDefined": "XP_024301921.1:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 5369, "referenceAllele": "C", "start": 5368 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.5161C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg1721Ter", "hgvsWellDefined": "XP_024301922.1:p.Arg1721_Lys2556delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "C", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.4774C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg1592Ter", "hgvsWellDefined": "XP_024301923.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 4914, "referenceAllele": "C", "start": 4913 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.4774C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg1592Ter", "hgvsWellDefined": "XP_024301924.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 4958, "referenceAllele": "C", "start": 4957 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.4774C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg1592Ter", "hgvsWellDefined": "XP_024301926.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 4752, "referenceAllele": "C", "start": 4751 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.4525C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg1509Ter", "hgvsWellDefined": "XP_024301927.1:p.Arg1509_Lys2344delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 4429, "referenceAllele": "C", "start": 4428 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.1315C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Arg439Ter", "hgvsWellDefined": "XP_024301930.1:p.Arg439_Lys1274delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.1075C>T" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Arg359Ter", "hgvsWellDefined": "XP_024301931.1:p.Arg359_Lys1194delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA645437876", "coordinates": [ { "allele": "T", "end": 5778, "referenceAllele": "C", "start": 5777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5581C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1861Ter", "hgvsWellDefined": "NP_071900.2:p.Arg1861_Lys2696delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5581C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.5581C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1861Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1861Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.4774C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg1592Ter", "hgvsWellDefined": "NP_758859.1:p.Arg1592_Lys2427delinsLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }