{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA362306029", "communityStandardTitle": [ "NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2752484[alleleid]", "alleleId": 2752484, "preferredName": "NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2584922", "RCV": [ "RCV003340822" ], "variationId": 2584922 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176694684C>A?assembly=hg19", "id": "chr5:g.176694684C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177267683C>A?assembly=hg38", "id": "chr5:g.177267683C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2480720376", "rs": 2480720376 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 177267683, "referenceAllele": "C", "start": 177267682 } ], "hgvs": [ "NC_000005.10:g.177267683C>A", "CM000667.2:g.177267683C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176694684, "referenceAllele": "C", "start": 176694683 } ], "hgvs": [ "NC_000005.9:g.176694684C>A", "CM000667.1:g.176694684C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176627290, "referenceAllele": "C", "start": 176627289 } ], "hgvs": [ "NC_000005.8:g.176627290C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 139605, "referenceAllele": "C", "start": 139604 } ], "hgvs": [ "NG_009821.1:g.139605C>A", "LRG_512:g.139605C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4650, "referenceAllele": "C", "start": 4649 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.4395C>A" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Tyr1465Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Tyr1465_Lys2405delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.4395C>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Tyr1465Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Tyr1465_Lys2405delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "C", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.4395C>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Tyr1465Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Tyr1465_Lys2405delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.6:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000424024.2:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825500" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.6:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000425120.2:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825535" }, { "coordinates": [ { "allele": "A", "end": 4851, "referenceAllele": "C", "start": 4850 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.4851C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "A", "end": 4580, "referenceAllele": "C", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.4395C>A" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Tyr1465Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Tyr1465_Lys2405delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "A", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687095.1:n.223C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830907" }, { "coordinates": [ { "allele": "A", "end": 4977, "referenceAllele": "C", "start": 4976 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.4959C>A" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Tyr1653Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Tyr1653_Lys2593delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "A", "end": 4665, "referenceAllele": "C", "start": 4664 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.4665C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "A", "end": 4598, "referenceAllele": "C", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.4395C>A" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Tyr1465Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Tyr1465_Lys2405delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "A", "end": 5415, "referenceAllele": "C", "start": 5414 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.5415C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "C", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000692024.1:n.2187C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833502" }, { "coordinates": [ { "allele": "A", "end": 5465, "referenceAllele": "C", "start": 5464 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.5268C>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Tyr1756Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5268C>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.5268C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Tyr1756Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Tyr1756Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.4461C>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Tyr1487Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "C", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.4461C>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Tyr1487Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "A", "end": 5313, "referenceAllele": "C", "start": 5312 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.5268C>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Tyr1756Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.5:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000424024.1:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS335467" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000504457.5:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000422996.1:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS336511" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000505395.5:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000424096.1:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS337199" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.5:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000425120.1:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339154" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "C", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000515735.1:c.-91C>A" ], "proteinEffect": { "hgvs": "ENSP00000423048.1:n.-91C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS344890" }, { "@id": "http://reg.genome.network/allele/PA2741981638", "coordinates": [ { "allele": "A", "end": 5406, "referenceAllele": "C", "start": 5405 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.5268C>A", "LRG_512t1:c.5268C>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Tyr1756Ter", "hgvsWellDefined": "NP_071900.2:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "C", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.4461C>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Tyr1487Ter", "hgvsWellDefined": "NP_758859.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "A", "end": 5415, "referenceAllele": "C", "start": 5414 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_005266016.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.4461C>A" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Tyr1487Ter", "hgvsWellDefined": "XP_005266017.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "A", "end": 4580, "referenceAllele": "C", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.4461C>A" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Tyr1487Ter", "hgvsWellDefined": "XP_005266018.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.762C>A" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Tyr254Ter", "hgvsWellDefined": "XP_005266019.1:p.Tyr254_Lys1194delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "A", "end": 5337, "referenceAllele": "C", "start": 5336 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_011532912.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "A", "end": 5308, "referenceAllele": "C", "start": 5307 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_011532913.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "C", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.4848C>A" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Tyr1616Ter", "hgvsWellDefined": "XP_011532914.1:p.Tyr1616_Lys2556delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "A", "end": 4403, "referenceAllele": "C", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.4212C>A" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Tyr1404Ter", "hgvsWellDefined": "XP_011532915.1:p.Tyr1404_Lys2344delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.1002C>A" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Tyr334Ter", "hgvsWellDefined": "XP_011532919.1:p.Tyr334_Lys1274delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "C", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.4461C>A" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Tyr1487Ter", "hgvsWellDefined": "NP_001352613.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "A", "end": 5415, "referenceAllele": "C", "start": 5414 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_024301918.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "A", "end": 5390, "referenceAllele": "C", "start": 5389 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_024301919.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "A", "end": 5344, "referenceAllele": "C", "start": 5343 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_024301920.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "A", "end": 6039, "referenceAllele": "C", "start": 6038 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.5268C>A" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Tyr1756Ter", "hgvsWellDefined": "XP_024301921.1:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "A", "end": 5056, "referenceAllele": "C", "start": 5055 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.4848C>A" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Tyr1616Ter", "hgvsWellDefined": "XP_024301922.1:p.Tyr1616_Lys2556delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "A", "end": 4754, "referenceAllele": "C", "start": 4753 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.4461C>A" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Tyr1487Ter", "hgvsWellDefined": "XP_024301923.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "C", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.4461C>A" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Tyr1487Ter", "hgvsWellDefined": "XP_024301924.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "A", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.4461C>A" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Tyr1487Ter", "hgvsWellDefined": "XP_024301926.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "A", "end": 4439, "referenceAllele": "C", "start": 4438 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.4212C>A" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Tyr1404Ter", "hgvsWellDefined": "XP_024301927.1:p.Tyr1404_Lys2344delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "A", "end": 4116, "referenceAllele": "C", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.1002C>A" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Tyr334Ter", "hgvsWellDefined": "XP_024301930.1:p.Tyr334_Lys1274delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.762C>A" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Tyr254Ter", "hgvsWellDefined": "XP_024301931.1:p.Tyr254_Lys1194delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA2741981638", "coordinates": [ { "allele": "A", "end": 5465, "referenceAllele": "C", "start": 5464 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.5268C>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Tyr1756Ter", "hgvsWellDefined": "NP_071900.2:p.Tyr1756_Lys2696delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.5268C>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.5268C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Tyr1756Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Tyr1756Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4685, "referenceAllele": "C", "start": 4684 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.4461C>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Tyr1487Ter", "hgvsWellDefined": "NP_758859.1:p.Tyr1487_Lys2427delinsArgGluIleValTrpValLysValGlyArgTyrArgTrpTrpProAlaGluIleCysHisProArgAlaValProSerAsnIleAspLysMetArgHisAspValGlyGluPheProValLeuPhePheGlySerAsnAspTyrLeuTrpThrHisGlnAlaArgValPheProTyrMetGluGlyAspValSerSerLysAspLysMetGlyLysGlyValAspGlyThrTyrLysLysAlaLeuGlnGluAlaAlaAlaArgPheGluGluLeuLysAlaGlnLysGluLeuArgGlnLeuGlnGluAspArgLysAsnAspLysLysProProProTyrLysHisIleLysValAsnArgProIleGlyArgValGlnIlePheThrAlaAspLeuSerGluIleProArgCysAsnCysLysAlaThrAspGluAsnProCysGlyIleAspSerGluCysIleAsnArgMetLeuLeuTyrGluCysHisProThrValCysProAlaGlyGlyArgCysGlnAsnGlnCysPheSerLysArgGlnTyrProGluValGluIlePheArgThrLeuGlnArgGlyTrpGlyLeuArgThrLysThrAspIleLysLysGlyGluPheValAsnGluTyrValGlyGluLeuIleAspGluGluGluCysArgAlaArgIleArgTyrAlaGlnGluHisAspIleThrAsnPheTyrMetLeuThrLeuAspLysAspArgIleIleAspAlaGlyProLysGlyAsnTyrAlaArgPheMetAsnHisCysCysGlnProAsnCysGluThrGlnLysTrpSerValAsnGlyAspThrArgValGlyLeuPheAlaLeuSerAspIleLysAlaGlyThrGluLeuThrPheAsnTyrAsnLeuGluCysLeuGlyAsnGlyLysThrValCysLysCysGlyAlaProAsnCysSerGlyPheLeuGlyValArgProLysAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }