#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
PRMT8	56341	broad.mit.edu	37	12	3649787	3649792	+	In_Frame_Del	DEL	TCCCAG	TCCCAG	-			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	TCCCAG	TCCCAG	-	-	TCCCAG	TCCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:3649787_3649792delTCCCAG	ENST00000382622.3	+	2	481_486	c.91_96delTCCCAG	c.(91-96)tcccagdel	p.SQ31del	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.SQ22del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCCCCAGC	0.65																																						ENST00000382622.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-96)tcccagdel		protein arginine methyltransferase 8																																				SO:0001651	inframe_deletion	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787_3649792delTCCCAG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91_96delTCCCAG	12.37:g.3649787_3649792delTCCCAG	ENSP00000372067:p.Ser31_Gln32del	True	False		Somatic	1				PRMT8_ENST00000452611.2_In_Frame_Del_p.SQ22del|PRMT8_ENST00000261252.4_3'UTR	p.SQ31del	NM_019854.4	NP_062828.3	WXS	Illumina HiSeq	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481_486	+			31					B2RDP0|Q8TBJ8	In_Frame_Del	DEL	ENST00000382622.3	37	c.91_96delTCCCAG	CCDS8521.2																																																																																				0.650	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	0	NM_019854		12:3649787
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
ST3GAL5	8869	broad.mit.edu	37	2	86075293	86075293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:86075293delT	ENST00000377332.3	-	4	461	c.353delA	c.(352-354)aagfs	p.K118fs	ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	118					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACGACATTCCTTCTGCAAGAC	0.433																																						ENST00000377332.3		NA																	0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(352-354)aagfs		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							209.0	215.0	213.0					2																	86075293		2203	4300	6503	SO:0001589	frameshift_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86075293delT	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.353delA	2.37:g.86075293delT	ENSP00000366549:p.Lys118fs	False	False		Somatic	2				ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs	p.K118fs	NM_003896.3	NP_003887.3	WXS	Illumina HiSeq	Phase_I	Q9UNP4	SIAT9_HUMAN			4	461	-			118					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Frame_Shift_Del	DEL	ENST00000377332.3	37	c.353delA	CCDS1986.2																																																																																				0.433	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	0	NM_003896		2:86075293
MFF	56947	broad.mit.edu	37	2	228197304	228197305	+	Splice_Site	INS	-	-	ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:228197304_228197305insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	ENST00000353339.3	+	5	870	c.429_429insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	c.(430-432)atc>atATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTATc	p.-144fs	MFF_ENST00000354503.6_Splice_Site_p.-118fs|MFF_ENST00000337110.7_Splice_Site_p.-118fs|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Splice_Site_p.-118fs|MFF_ENST00000304593.9_Splice_Site_p.-118fs|MFF_ENST00000392059.1_Splice_Site_p.-144fs|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Splice_Site_p.-118fs|MFF_ENST00000409565.1_Splice_Site_p.-118fs	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor						mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAAATGAAGAAGTAAGTAGAAC	0.381																																						ENST00000353339.3		NA																	0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(430-432)atc>atATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTATc		mitochondrial fission factor																																				SO:0001630	splice_region_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197304_228197305insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.429+1->ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	2.37:g.228197304_228197305insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT		True	False		Somatic	0				MFF_ENST00000304593.9_Splice_Site_p.-118fs|MFF_ENST00000409616.1_Splice_Site_p.-118fs|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000349901.7_Splice_Site_p.-118fs|MFF_ENST00000409565.1_Splice_Site_p.-118fs|MFF_ENST00000337110.7_Splice_Site_p.-118fs|MFF_ENST00000392059.1_Splice_Site_p.-144fs|MFF_ENST00000354503.6_Splice_Site_p.-118fs	p.-144fs	NM_001277061.1	NP_001263990.1	WXS	Illumina HiSeq	Phase_I	Q9GZY8	MFF_HUMAN			5	870	+			NA					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Splice_Site	INS	ENST00000353339.3	37	c.429_429insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	CCDS2465.1																																																																																				0.381	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	0	NM_020194	Frame_Shift_Ins	2:228197304
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
CDKN2AIP	55602	broad.mit.edu	37	4	184367559	184367561	+	In_Frame_Del	DEL	CTG	CTG	-	rs398108445|rs147291711|rs10533201|rs201501817	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr4:184367559_184367561delCTG	ENST00000504169.1	+	3	929_931	c.722_724delCTG	c.(721-726)tctgca>tca	p.A242del	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	242	Ser-rich.			Missing (in Ref. 3; EAX04691 and 4; AAH22270). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACACGGTTCTGCATCATTTGT	0.458														1818	0.363019	0.1203	0.4164	5008	,	,		22238	0.244		0.7247	False		,,,				2504	0.4039					ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(721-726)tctgca>tca		CDKN2A interacting protein				915,3351		96,723,1314						1.2	0.8		dbSNP_134	82	6064,2190		2233,1598,296	no	coding	CDKN2AIP	NM_017632.2		2329,2321,1610	A1A1,A1R,RR		26.5326,21.4487,44.2572				6979,5541				SO:0001651	inframe_deletion	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367559_184367561delCTG	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.722_724delCTG	4.37:g.184367559_184367561delCTG	ENSP00000427108:p.Ala242del	False	False		Somatic	1				CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.A242del	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	929_931	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	242	Missing (in Ref. 3; EAX04691 and 4; AAH22270).		Ser-rich.		Q8TBM5|Q9NYH0	In_Frame_Del	DEL	ENST00000504169.1	37	c.722_724delCTG	CCDS34110.1																																																																																				0.458	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184367559
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
CATSPERD	257062	broad.mit.edu	37	19	5745924	5745924	+	Splice_Site	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:5745924G>A	ENST00000381624.3	+	9	719	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	220					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTTCTCCCAGGGCATGTTCAA	0.552																																						ENST00000381624.3		NA																	0					NA						c.(658-660)Ggc>Agc		catsper channel auxiliary subunit delta							167.0	158.0	161.0					19																	5745924		1907	4127	6034	SO:0001630	splice_region_variant	257062					integral to membrane		g.chr19:5745924G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.658-1G>A	19.37:g.5745924G>A		True	False		Somatic	0				CATSPERD_ENST00000381614.2_5'UTR	p.G220S	NM_152784.3	NP_689997.3	WXS	Illumina HiSeq	Phase_I	Q86XM0	TM146_HUMAN			9	719	+			220					Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37	c.658G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286429	0.59867	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.16324	2.35	2.91	2.91	0.33838	.	1.329550	0.05708	U	0.595402	T	0.33147	0.0853	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	T	0.10753	-1.0616	9	.	.	.	-10.391	9.5202	0.39131	0.0:0.0:1.0:0.0	.	220	Q86XM0	TM146_HUMAN	S	146;220	ENSP00000371037:G220S	.	G	+	1	0	TMEM146	5696924	0.998000	0.40836	0.189000	0.23252	0.228000	0.25075	3.539000	0.53604	1.947000	0.56498	0.491000	0.48974	GGC		0.552	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	0	NM_152784	Missense_Mutation	19:5745924
TBX3	6926	broad.mit.edu	37	12	115112388	115112388	+	Missense_Mutation	SNP	G	G	A	rs565848855		TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:115112388G>A	ENST00000257566.3	-	7	1741	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	TBX3_ENST00000349155.2_Missense_Mutation_p.A431V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	451					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCGCTCCTCCGCGCCCAGGCC	0.751																																						ENST00000349155.2		NA																	0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1291-1293)gCg>gTg		T-box 3							9.0	12.0	11.0					12																	115112388		2170	4223	6393	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115112388G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1352C>T	12.37:g.115112388G>A	ENSP00000257566:p.Ala451Val	False	False		Somatic	0				TBX3_ENST00000257566.3_Missense_Mutation_p.A451V	p.A431V	NM_005996.3	NP_005987.3	WXS	Illumina HiSeq	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	2255	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		451					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1292C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490947	0.44249	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.2	5.14	1.42	0.22433	.	6.239900	0.01621	U	0.023007	T	0.75184	0.3815	N	0.22421	0.69	0.26006	N	0.982051	B;B	0.34349	0.45;0.043	B;B	0.23852	0.049;0.007	T	0.67094	-0.5757	10	0.17369	T	0.5	.	5.0234	0.14372	0.2845:0.2671:0.4484:0.0	.	431;451	O15119-2;O15119	.;TBX3_HUMAN	V	431;451;451	ENSP00000257567:A431V;ENSP00000257566:A451V	ENSP00000257566:A451V	A	-	2	0	TBX3	113596771	0.352000	0.24895	0.749000	0.31150	0.723000	0.41478	1.286000	0.33273	1.175000	0.42826	-0.191000	0.12829	GCG		0.751	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	0	NM_016569, NM_005996		12:115112388
RRP8	23378	broad.mit.edu	37	11	6622389	6622389	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:6622389G>T	ENST00000254605.6	-	3	1024	c.907C>A	c.(907-909)Ctt>Att	p.L303I	ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000299421.4_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	303					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CGCTGGCGAAGATCCCTGGCG	0.572																																						ENST00000254605.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(907-909)Ctt>Att		ribosomal RNA processing 8, methyltransferase, homolog (yeast)							32.0	32.0	32.0					11																	6622389		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622389G>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.907C>A	11.37:g.6622389G>T	ENSP00000254605:p.Leu303Ile	False	False		Somatic	0				RRP8_ENST00000534343.1_Intron	p.L303I	NM_015324.3	NP_056139.1	WXS	Illumina HiSeq	Phase_I	O43159	RRP8_HUMAN			3	1024	-			303					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.907C>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737955	0.49045	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	6.08	4.99	0.66335	.	0.059275	0.64402	D	0.000004	T	0.46151	0.1378	N	0.17922	0.545	0.80722	D	1	B	0.26809	0.16	P	0.51918	0.684	T	0.37407	-0.9707	10	0.07644	T	0.81	-20.4274	9.7753	0.40614	0.0818:0.0:0.7743:0.144	.	303	O43159	RRP8_HUMAN	I	303	ENSP00000254605:L303I;ENSP00000436246:L303I	ENSP00000254605:L303I	L	-	1	0	RRP8	6578965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.110000	0.57831	2.894000	0.99253	0.655000	0.94253	CTT		0.572	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	0	NM_015324		11:6622389
SLC6A5	9152	broad.mit.edu	37	11	20676316	20676316	+	Missense_Mutation	SNP	C	C	T	rs141654146	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:20676316C>T	ENST00000525748.1	+	16	2569	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	766					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCTCAACACCGCGGGGAGCG	0.542																																						ENST00000525748.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2296-2298)Cgc>Tgc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)	C	CYS/ARG	1,4405		0,1,2202	145.0	138.0	140.0		2296	6.0	1.0	11	dbSNP_134	140	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC6A5	NM_004211.3	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	766/798	20676316	3,13003	2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676316C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2296C>T	11.37:g.20676316C>T	ENSP00000434364:p.Arg766Cys	False	False		Somatic	0				SLC6A5_ENST00000528440.1_3'UTR	p.R766C	NM_004211.3	NP_004202.2	WXS	Illumina HiSeq	Phase_I	Q9Y345	SC6A5_HUMAN			16	2569	+			766					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2296C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640687	0.87859	2.27E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.75938	-0.98	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82748	-0.0304	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	766	Q9Y345	SC6A5_HUMAN	C	766	ENSP00000434364:R766C	ENSP00000434364:R766C	R	+	1	0	SLC6A5	20632892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.645000	0.67909	2.873000	0.98535	0.563000	0.77884	CGC		0.542	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	0	NM_004211		11:20676316
AGGF1	55109	broad.mit.edu	37	5	76349893	76349893	+	Missense_Mutation	SNP	A	A	T	rs543793359		TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr5:76349893A>T	ENST00000312916.7	+	10	1953	c.1571A>T	c.(1570-1572)gAt>gTt	p.D524V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	524					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GATACCTGTGATGGCTGTGAA	0.408																																						ENST00000312916.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1570-1572)gAt>gTt		angiogenic factor with G patch and FHA domains 1							140.0	135.0	137.0					5																	76349893		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76349893A>T	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1571A>T	5.37:g.76349893A>T	ENSP00000316109:p.Asp524Val	False	False		Somatic	0					p.D524V	NM_018046.4	NP_060516.2	WXS	Illumina HiSeq	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	10	1953	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	524					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.1571A>T	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284157	0.59867	.	.	ENSG00000164252	ENST00000312916	T	0.40476	1.03	5.02	5.02	0.67125	Forkhead-associated (FHA) domain (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.56769	1.78	0.80722	D	1	P	0.38617	0.64	B	0.34779	0.189	T	0.46345	-0.9198	10	0.72032	D	0.01	-0.0151	14.7498	0.69516	1.0:0.0:0.0:0.0	.	524	Q8N302	AGGF1_HUMAN	V	524	ENSP00000316109:D524V	ENSP00000316109:D524V	D	+	2	0	AGGF1	76385649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.271000	0.95698	1.883000	0.54544	0.379000	0.24179	GAT		0.408	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	0	NM_018046		5:76349893
RBM10	8241	broad.mit.edu	37	X	47045114	47045114	+	Splice_Site	SNP	G	G	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chrX:47045114G>C	ENST00000377604.3	+	21	3097		c.e21-1		RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCCTCTTGCAGCAAAACCTTG	0.562																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.e21-1		RNA binding motif protein 10							86.0	71.0	76.0					X																	47045114		2203	4300	6503	SO:0001630	splice_region_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045114G>C	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2356-1G>C	X.37:g.47045114G>C		False	False		Somatic	0				RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site		NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	WXS	Illumina HiSeq	Phase_I	P98175	RBM10_HUMAN			21	3097	+			NA					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Splice_Site	SNP	ENST00000377604.3	37		CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012815	0.54468	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM10	46930058	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.496000	0.97967	2.285000	0.76669	0.529000	0.55759	.		0.562	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	0	NM_005676	Intron	X:47045114
ELMO1	9844	broad.mit.edu	37	7	37354484	37354484	+	Silent	SNP	G	G	A	rs368913504	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr7:37354484G>A	ENST00000310758.4	-	4	809	c.162C>T	c.(160-162)gcC>gcT	p.A54A	ELMO1_ENST00000448602.1_Silent_p.A54A|ELMO1_ENST00000442504.1_Silent_p.A54A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	54					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGAACTATCGGCATGCTGGA	0.328													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21569	0.001		0.0	False		,,,				2504	0.0					ENST00000310758.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(160-162)gcC>gcT		engulfment and cell motility 1		G	,,	0,4406		0,0,2203	110.0	104.0	106.0		162,162,162	-8.8	0.7	7		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	54/728,54/728,54/728	37354484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37354484G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.162C>T	7.37:g.37354484G>A		False	False		Somatic	0				ELMO1_ENST00000442504.1_Silent_p.A54A|ELMO1_ENST00000448602.1_Silent_p.A54A	p.A54A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina HiSeq	Phase_I	Q92556	ELMO1_HUMAN			4	809	-			54					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.162C>T	CCDS5449.1																																																																																				0.328	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	0	NM_130442		7:37354484
SYNE1	23345	broad.mit.edu	37	6	152651474	152651474	+	Silent	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr6:152651474T>C	ENST00000367255.5	-	78	14947	c.14346A>G	c.(14344-14346)gaA>gaG	p.E4782E	SYNE1_ENST00000265368.4_Silent_p.E4782E|SYNE1_ENST00000423061.1_Silent_p.E4711E|SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000341594.5_Silent_p.E4529E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4782					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTCGTGTTCTTGGTAAG	0.478										HNSCC(10;0.0054)																												ENST00000367255.5		NA																	0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14344-14346)gaA>gaG		spectrin repeat containing, nuclear envelope 1							107.0	97.0	101.0					6																	152651474		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651474T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14346A>G	6.37:g.152651474T>C		False	False	HNSCC(10;0.0054)	Somatic	0				SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000423061.1_Silent_p.E4711E|SYNE1_ENST00000341594.5_Silent_p.E4529E|SYNE1_ENST00000265368.4_Silent_p.E4782E	p.E4782E	NM_182961.3	NP_892006.3	WXS	Illumina HiSeq	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14947	-		Ovarian(120;0.0955)	4782					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14346A>G	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	NM_182961		6:152651474
PXDNL	137902	broad.mit.edu	37	8	52321508	52321508	+	Silent	SNP	G	G	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:52321508G>C	ENST00000356297.4	-	17	2776	c.2676C>G	c.(2674-2676)gcC>gcG	p.A892A	PXDNL_ENST00000543296.1_Silent_p.A892A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	892					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCGATGTAGGCTGTTTGCT	0.617																																						ENST00000356297.4		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2674-2676)gcC>gcG		peroxidasin homolog (Drosophila)-like							45.0	51.0	49.0					8																	52321508		2051	4185	6236	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321508G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2676C>G	8.37:g.52321508G>C		False	False		Somatic	0				PXDNL_ENST00000543296.1_Silent_p.A892A	p.A892A	NM_144651.4	NP_653252	WXS	Illumina HiSeq	Phase_I	A1KZ92	PXDNL_HUMAN			17	2776	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	892					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2676C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805621	0.02819	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.17	-1.27	0.09347	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21449	-1.0245	4	.	.	.	.	3.3987	0.07315	0.3694:0.0:0.3804:0.2502	.	.	.	.	R	11	.	.	P	-	2	0	PXDNL	52484061	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-3.594000	0.00420	-0.767000	0.04633	0.655000	0.94253	CCT		0.617	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	0	NM_144651		8:52321508
MLF2	8079	broad.mit.edu	37	12	6858098	6858098	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:6858098G>A	ENST00000203630.5	-	8	1254	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R204W|MLF2_ENST00000539187.1_Missense_Mutation_p.R204W			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	204					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						CGCTGCTGCCGGAATCGGGAG	0.687																																						ENST00000203630.5		NA																	0				kidney(2)|large_intestine(3)|lung(4)	9						c.(610-612)Cgg>Tgg		myeloid leukemia factor 2							15.0	15.0	15.0					12																	6858098		2184	4269	6453	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858098G>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.610C>T	12.37:g.6858098G>A	ENSP00000203630:p.Arg204Trp	False	False		Somatic	0				MLF2_ENST00000539187.1_Missense_Mutation_p.R204W|MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000542154.1_Missense_Mutation_p.R204W	p.R204W			WXS	Illumina HiSeq	Phase_I	Q15773	MLF2_HUMAN			8	1254	-			204						Missense_Mutation	SNP	ENST00000203630.5	37	c.610C>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316957	0.40996	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.21	2.18	0.27775	.	0.153364	0.44688	D	0.000421	T	0.54127	0.1839	L	0.27053	0.805	0.49798	D	0.999828	D	0.89917	1.0	D	0.75020	0.985	T	0.53173	-0.8476	9	0.62326	D	0.03	.	7.9052	0.29757	0.0728:0.0:0.5051:0.4222	.	204	Q15773	MLF2_HUMAN	W	204	.	ENSP00000203630:R204W	R	-	1	2	MLF2	6728359	1.000000	0.71417	0.989000	0.46669	0.001000	0.01503	1.782000	0.38654	0.548000	0.28955	-0.218000	0.12543	CGG		0.687	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2	0			12:6858098
BST2	684	broad.mit.edu	37	19	17515193	17515193	+	Silent	SNP	C	C	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:17515193C>A	ENST00000252593.6	-	2	411	c.339G>T	c.(337-339)gtG>gtT	p.V113V	BST2_ENST00000527220.1_Intron|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	113					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CAAGCTCCTCCACTTTCTTTT	0.582																																						ENST00000252593.6		NA																	0				endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						c.(337-339)gtG>gtT		bone marrow stromal cell antigen 2							107.0	109.0	109.0					19																	17515193		2203	4300	6503	SO:0001819	synonymous_variant	684				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity	g.chr19:17515193C>A		CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.339G>T	19.37:g.17515193C>A		False	False		Somatic	0				BST2_ENST00000527220.1_Intron	p.V113V	NM_004335.2	NP_004326.1	WXS	Illumina HiSeq	Phase_I	Q10589	BST2_HUMAN			2	411	-			113					A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	37	c.339G>T	CCDS12358.1																																																																																				0.582	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	0	NM_004335		19:17515193
POTEM	641455	broad.mit.edu	37	14	20019865	20019865	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr14:20019865G>T	ENST00000551509.1	-	1	407	c.356C>A	c.(355-357)cCc>cAc	p.P119H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	119										endometrium(4)|kidney(1)|lung(4)	9						GTCTCCCCAGGGGCCCACTTT	0.602																																						ENST00000551509.1		NA																	0				endometrium(4)|kidney(1)|lung(4)	9						c.(355-357)cCc>cAc		POTE ankyrin domain family, member M							57.0	65.0	63.0					14																	20019865		324	1044	1368	SO:0001583	missense	641455							g.chr14:20019865G>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.356C>A	14.37:g.20019865G>T	ENSP00000452296:p.Pro119His	True	False		Somatic	0					p.P119H	NM_001145442.1	NP_001138914.1	WXS	Illumina HiSeq	Phase_I	A6NI47	POTEM_HUMAN			1	407	-			119						Missense_Mutation	SNP	ENST00000551509.1	37	c.356C>A	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	9.740	1.164672	0.21538	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.26223	1.75	0.924	-1.52	0.08637	.	.	.	.	.	T	0.10895	0.0266	N	0.14661	0.345	0.09310	N	1	B	0.24092	0.097	B	0.15870	0.014	T	0.31392	-0.9945	8	.	.	.	.	3.989	0.09529	0.5279:0.0:0.4721:0.0	.	119	A6NI47	POTEM_HUMAN	H	119	ENSP00000452296:P119H	.	P	-	2	0	POTEM	19089865	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.018000	0.12568	-0.579000	0.05952	0.162000	0.16502	CCC		0.602	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	0	NM_001145442		14:20019865
ALPK2	115701	broad.mit.edu	37	18	56274646	56274646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr18:56274646C>T	ENST00000361673.3	-	3	348	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	45	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATTCTTATACCAAGTTACCT	0.348																																						ENST00000361673.3		NA																	0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(133-135)tgG>tgA		alpha-kinase 2							72.0	68.0	69.0					18																	56274646		1880	4105	5985	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274646C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.135G>A	18.37:g.56274646C>T	ENSP00000354991:p.Trp45*	False	False		Somatic	0					p.W45*	NM_052947.3	NP_443179.3	WXS	Illumina HiSeq	Phase_I	Q86TB3	ALPK2_HUMAN			3	348	-			45			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.135G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	39	7.294979	0.98192	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1281	17.1872	0.86869	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000354991:W45X	W	-	3	0	ALPK2	54425626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.818000	0.55678	2.793000	0.96121	0.591000	0.81541	TGG		0.348	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	NM_052947		18:56274646
MYH7	4625	broad.mit.edu	37	14	23885302	23885302	+	Missense_Mutation	SNP	G	G	C	rs397516231		TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr14:23885302G>C	ENST00000355349.3	-	34	5026	c.4864C>G	c.(4864-4866)Ctc>Gtc	p.L1622V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1622					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTCATTGAGGTCTCCTTCC	0.607																																						ENST00000355349.3		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4864-4866)Ctc>Gtc		myosin, heavy chain 7, cardiac muscle, beta							198.0	146.0	163.0					14																	23885302		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885302G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4864C>G	14.37:g.23885302G>C	ENSP00000347507:p.Leu1622Val	False	False		Somatic	0					p.L1622V	NM_000257.2	NP_000248.2	WXS	Illumina HiSeq	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	5026	-	all_cancers(95;2.54e-05)		1622					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4864C>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409563	0.62399	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.83843	0.5342	M	0.71206	2.165	0.50313	D	0.999869	P	0.40534	0.72	P	0.50162	0.633	D	0.85606	0.1255	9	0.59425	D	0.04	.	17.8682	0.88803	0.0:0.0:1.0:0.0	.	1622	P12883	MYH7_HUMAN	V	1622;1627	ENSP00000347507:L1622V	ENSP00000347507:L1622V	L	-	1	0	MYH7	22955142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.165000	0.77544	2.537000	0.85549	0.655000	0.94253	CTC		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	NM_000257		14:23885302
MCM3AP	8888	broad.mit.edu	37	21	47704430	47704430	+	Silent	SNP	C	C	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr21:47704430C>T	ENST00000397708.1	-	2	1025	c.771G>A	c.(769-771)gcG>gcA	p.A257A	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|MCM3AP_ENST00000291688.1_Silent_p.A257A|YBEY_ENST00000397701.4_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	257	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGCCCAAAACCGCAGATGATA	0.468																																						ENST00000397708.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(769-771)gcG>gcA		minichromosome maintenance complex component 3 associated protein							82.0	82.0	82.0					21																	47704430		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704430C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.771G>A	21.37:g.47704430C>T		False	False		Somatic	0				MCM3AP_ENST00000291688.1_Silent_p.A257A	p.A257A			WXS	Illumina HiSeq	Phase_I	O60318	MCM3A_HUMAN			2	1025	-	Breast(49;0.112)		257					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.771G>A	CCDS13734.1																																																																																				0.468	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	0	NM_003906		21:47704430
APLF	200558	broad.mit.edu	37	2	68729986	68729986	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:68729986T>A	ENST00000303795.4	+	3	463	c.292T>A	c.(292-294)Ttc>Atc	p.F98I		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	98	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAAATACATTTTCCGCATTCT	0.373																																						ENST00000303795.4		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(292-294)Ttc>Atc		aprataxin and PNKP like factor							137.0	137.0	137.0					2																	68729986		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68729986T>A	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.292T>A	2.37:g.68729986T>A	ENSP00000307004:p.Phe98Ile	True	False		Somatic	0					p.F98I	NM_173545.2	NP_775816.1	WXS	Illumina HiSeq	Phase_I	Q8IW19	APLF_HUMAN			3	463	+			98			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.292T>A	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.807837	0.50421	.	.	ENSG00000169621	ENST00000303795	T	0.27104	1.69	5.22	5.22	0.72569	SMAD/FHA domain (1);	0.053905	0.64402	D	0.000001	T	0.53449	0.1797	M	0.83603	2.65	0.44432	D	0.997351	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.60136	-0.7322	10	0.87932	D	0	.	12.924	0.58249	0.0:0.0:0.0:1.0	.	98;98	F8WET0;Q8IW19	.;APLF_HUMAN	I	98	ENSP00000307004:F98I	ENSP00000307004:F98I	F	+	1	0	APLF	68583490	0.982000	0.34865	0.424000	0.26647	0.007000	0.05969	4.205000	0.58466	2.091000	0.63221	0.533000	0.62120	TTC		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	0	NM_173545		2:68729986
ASH2L	9070	broad.mit.edu	37	8	37974234	37974234	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:37974234A>T	ENST00000343823.6	+	8	1153	c.844A>T	c.(844-846)Aat>Tat	p.N282Y	ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y|ASH2L_ENST00000524263.1_3'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	282					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TACTAGTGGGAATTTAAATGG	0.378																																						ENST00000343823.6		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(844-846)Aat>Tat		ash2 (absent, small, or homeotic)-like (Drosophila)							93.0	88.0	89.0					8																	37974234		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37974234A>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.844A>T	8.37:g.37974234A>T	ENSP00000340896:p.Asn282Tyr	True	False		Somatic	0				ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y	p.N282Y	NM_004674.4	NP_004665.2	WXS	Illumina HiSeq	Phase_I	Q9UBL3	ASH2L_HUMAN			8	1153	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	282					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.844A>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009607	0.54361	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.79	5.79	0.91817	.	0.088769	0.85682	D	0.000000	T	0.12347	0.0300	N	0.03608	-0.345	0.46774	D	0.99919	B;P	0.47350	0.001;0.894	B;B	0.41723	0.001;0.365	T	0.17107	-1.0380	10	0.59425	D	0.04	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	188;282	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	282;188;143;188;188	ENSP00000340896:N282Y;ENSP00000250635:N188Y;ENSP00000443606:N143Y;ENSP00000395310:N188Y;ENSP00000430259:N188Y	ENSP00000250635:N188Y	N	+	1	0	ASH2L	38093391	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.057000	0.64294	2.201000	0.70794	0.533000	0.62120	AAT		0.378	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	0	NM_004674		8:37974234
SLC8A2	6543	broad.mit.edu	37	19	47968987	47968987	+	Splice_Site	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:47968987T>C	ENST00000236877.6	-	2	1069	c.674A>G	c.(673-675)cAg>cGg	p.Q225R	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	225					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTTGCTCACCTGGACCACACC	0.478																																						ENST00000236877.6		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(673-675)cAg>cGg		solute carrier family 8 (sodium/calcium exchanger), member 2							51.0	35.0	41.0					19																	47968987		2203	4300	6503	SO:0001630	splice_region_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47968987T>C	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.675+1A>G	19.37:g.47968987T>C		False	False		Somatic	0				SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	p.Q225R	NM_015063.2	NP_055878.1	WXS	Illumina HiSeq	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	1069	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	225					B4DYQ9	Splice_Site	SNP	ENST00000236877.6	37	c.674A>G	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103832	0.37145	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.62639	0.01	4.16	4.16	0.48862	Sodium/calcium exchanger membrane region (1);	0.066208	0.64402	D	0.000012	T	0.55353	0.1915	L	0.39898	1.24	0.80722	D	1	P;P	0.43826	0.818;0.801	P;B	0.44561	0.453;0.438	T	0.60429	-0.7265	10	0.87932	D	0	.	9.5368	0.39226	0.0:0.0:0.0:1.0	.	53;225	E9PGS7;Q9UPR5	.;NAC2_HUMAN	R	53;225	ENSP00000236877:Q225R	ENSP00000236877:Q225R	Q	-	2	0	SLC8A2	52660799	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	6.954000	0.76001	1.758000	0.51981	0.454000	0.30748	CAG		0.478	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1	0		Missense_Mutation	19:47968987
LILRA6	79168	broad.mit.edu	37	19	54744909	54744909	+	Silent	SNP	G	G	A	rs370378163	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:54744909G>A	ENST00000396365.2	-	5	792	c.753C>T	c.(751-753)taC>taT	p.Y251Y	LILRA6_ENST00000419410.2_Silent_p.Y251Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000440558.2_Silent_p.Y251Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	251	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGACAT	0.652													.|||	2	0.000399361	0.0	0.0	5008	,	,		32161	0.0		0.002	False		,,,				2504	0.0					ENST00000440558.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(751-753)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		G		1,4405	2.1+/-5.4	0,1,2202	121.0	130.0	127.0		753	-1.1	0.0	19		127	1,8599		0,1,4299	no	coding-synonymous	LILRA6	NM_024318.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		251/482	54744909	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79168							g.chr19:54744909G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.753C>T	19.37:g.54744909G>A		False	False		Somatic	0				LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.Y251Y|LILRA6_ENST00000419410.2_Silent_p.Y251Y	p.Y251Y			WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	5	801	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		NA						Silent	SNP	ENST00000396365.2	37	c.753C>T	CCDS42610.1																																																																																				0.652	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	0	NM_024318		19:54744909
C2orf71	388939	broad.mit.edu	37	2	29295765	29295765	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:29295765G>T	ENST00000331664.5	-	1	1362	c.1363C>A	c.(1363-1365)Cca>Aca	p.P455T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	455					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAATCACATGGGGTGCTTGTC	0.552																																						ENST00000331664.5		NA																	0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1363-1365)Cca>Aca		chromosome 2 open reading frame 71							86.0	90.0	89.0					2																	29295765		1975	4158	6133	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295765G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1363C>A	2.37:g.29295765G>T	ENSP00000332809:p.Pro455Thr	True	False		Somatic	0					p.P455T	NM_001029883.2	NP_001025054.1	WXS	Illumina HiSeq	Phase_I	A6NGG8	CB071_HUMAN			1	1362	-			455						Missense_Mutation	SNP	ENST00000331664.5	37	c.1363C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004923	0.19199	.	.	ENSG00000179270	ENST00000331664	T	0.19394	2.15	5.3	-3.7	0.04437	.	1.678270	0.03044	N	0.153697	T	0.18800	0.0451	L	0.56769	1.78	0.09310	N	1	P	0.38370	0.628	B	0.34489	0.184	T	0.29912	-0.9996	10	0.33940	T	0.23	3.0531	6.309	0.21154	0.4479:0.3978:0.1543:0.0	.	455	A6NGG8	CB071_HUMAN	T	455	ENSP00000332809:P455T	ENSP00000332809:P455T	P	-	1	0	C2orf71	29149269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.083000	0.11286	-0.583000	0.05921	0.561000	0.74099	CCA		0.552	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	0	NM_001029883		2:29295765
TRIM37	4591	broad.mit.edu	37	17	57158534	57158534	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr17:57158534T>A	ENST00000262294.7	-	6	675	c.416A>T	c.(415-417)cAc>cTc	p.H139L	TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L|TRIM37_ENST00000376149.3_Missense_Mutation_p.H17L|TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	139					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTAGTGACGTGTTGCTCATA	0.373									Mulibrey Nanism																													ENST00000376149.3		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(49-51)cAc>cTc		tripartite motif containing 37							117.0	115.0	116.0					17																	57158534		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57158534T>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.416A>T	17.37:g.57158534T>A	ENSP00000262294:p.His139Leu	False	False		Somatic	0				TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L|TRIM37_ENST00000262294.7_Missense_Mutation_p.H139L|TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L	p.H17L			WXS	Illumina HiSeq	Phase_I	O94972	TRI37_HUMAN			6	859	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		139					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.50A>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079159	0.94050	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.68479	0.57;0.57;-0.33;0.57	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.81682	2.555	0.80722	D	1	D;D;B	0.89917	0.994;1.0;0.128	D;D;B	0.83275	0.949;0.996;0.138	D	0.84263	0.0484	10	0.59425	D	0.04	-21.7933	14.6613	0.68873	0.0:0.0:0.0:1.0	.	105;17;139	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	L	139;139;17;105	ENSP00000376785:H139L;ENSP00000262294:H139L;ENSP00000365319:H17L;ENSP00000376784:H105L	ENSP00000262294:H139L	H	-	2	0	TRIM37	54513316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.864000	0.87037	2.150000	0.67090	0.528000	0.53228	CAC		0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	0	NM_015294		17:57158534
SORT1	6272	broad.mit.edu	37	1	109883487	109883487	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr1:109883487T>C	ENST00000256637.6	-	10	1181	c.1123A>G	c.(1123-1125)Aca>Gca	p.T375A	SORT1_ENST00000538502.1_Missense_Mutation_p.T238A	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	375					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GTAAAGATTGTGCCAAACCCA	0.443																																						ENST00000256637.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1123-1125)Aca>Gca		sortilin 1							116.0	98.0	104.0					1																	109883487		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109883487T>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1123A>G	1.37:g.109883487T>C	ENSP00000256637:p.Thr375Ala	False	False		Somatic	0				SORT1_ENST00000538502.1_Missense_Mutation_p.T238A	p.T375A	NM_002959.5	NP_002950.3	WXS	Illumina HiSeq	Phase_I	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	10	1181	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	375					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1123A>G	CCDS798.1	.	.	.	.	.	.	.	.	.	.	t	17.76	3.469461	0.63625	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.28454	1.61;1.61	5.69	5.69	0.88448	VPS10 (1);	0.101437	0.64402	D	0.000003	T	0.23532	0.0569	L	0.43757	1.38	0.58432	D	0.999999	B;P	0.43352	0.434;0.804	B;P	0.47102	0.148;0.537	T	0.01557	-1.1325	10	0.36615	T	0.2	-10.6008	14.923	0.70854	0.0:0.0:0.0:1.0	.	238;375	B4DWI3;Q99523	.;SORT_HUMAN	A	375;238	ENSP00000256637:T375A;ENSP00000438597:T238A	ENSP00000256637:T375A	T	-	1	0	SORT1	109685010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.820000	0.86633	2.170000	0.68504	0.529000	0.55759	ACA		0.443	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	0	NM_002959		1:109883487
ZNF484	83744	broad.mit.edu	37	9	95610736	95610736	+	Silent	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr9:95610736T>C	ENST00000375495.3	-	5	481	c.333A>G	c.(331-333)ccA>ccG	p.P111P	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.P113P|ZNF484_ENST00000395505.2_Silent_p.P75P|ZNF484_ENST00000332591.6_Silent_p.P75P	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAATGGAATATGGGTCATCTC	0.363																																						ENST00000395505.2		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(223-225)ccA>ccG		zinc finger protein 484							117.0	119.0	118.0					9																	95610736		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610736T>C	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.333A>G	9.37:g.95610736T>C		True	False		Somatic	0				ZNF484_ENST00000375495.3_Silent_p.P111P|ZNF484_ENST00000395506.3_Silent_p.P113P|ZNF484_ENST00000332591.6_Silent_p.P75P|ANKRD19P_ENST00000473204.1_RNA	p.P75P	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	WXS	Illumina HiSeq	Phase_I	Q5JVG2	ZN484_HUMAN			3	317	-			111			KRAB.		B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.225A>G	CCDS35066.1																																																																																				0.363	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	0	XM_046861		9:95610736
