#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	11	0	0	0	1	0	10	11				
MYLK	4638	broad.mit.edu	37	3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A	rs552998417	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	ENST00000475616.1	-	9	1629	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000360772.3_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W			Q15746	MYLK_HUMAN	myosin light chain kinase	544	Ig-like C2-type 4.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.002					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1630-1632)Cgg>Tgg		myosin light chain kinase							45.0	48.0	47.0					3																	123444812		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123444812G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1630C>T	3.37:g.123444812G>A	ENSP00000418335:p.Arg544Trp					MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W|MYLK_ENST00000475616.1_Missense_Mutation_p.R544W	p.R544W			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	13	2008	-		Lung NSC(201;0.0496)	544			Ig-like C2-type 4.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1630C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015871	0.35606	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.81	3.85	0.44370	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66147	0.2760	M	0.66297	2.02	0.18873	N	0.999987	D;P;D;P;D	0.54601	0.959;0.835;0.959;0.835;0.967	B;B;P;B;P	0.46275	0.376;0.326;0.502;0.347;0.51	T	0.61907	-0.6966	9	0.72032	D	0.01	.	7.5948	0.28041	0.1:0.173:0.727:0.0	.	544;475;544;475;544	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	W	544;544;544;475;544	ENSP00000354004:R544W;ENSP00000353452:R544W;ENSP00000352088:R544W;ENSP00000320622:R475W;ENSP00000418335:R544W	ENSP00000320622:R475W	R	-	1	2	MYLK	124927502	0.266000	0.24112	0.753000	0.31225	0.141000	0.21300	1.549000	0.36212	2.506000	0.84524	0.655000	0.94253	CGG		0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		26	16	0	0	0	1	0	26	16				
ZNF630	57232	broad.mit.edu	37	X	47920207	47920207	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	ENST00000409324.3	-	3	359	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ZNF630_ENST00000442455.3_Missense_Mutation_p.V31F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483																																						ENST00000442455.3																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(91-93)Gtc>Ttc		zinc finger protein 630							71.0	54.0	60.0					X																	47920207		1557	3570	5127	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47920207C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.133G>T	X.37:g.47920207C>A	ENSP00000386393:p.Val45Phe					ZNF630_ENST00000409324.3_Missense_Mutation_p.V45F|ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA	p.V31F	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN			3	434	-			45			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.91G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	5.944	0.358217	0.11239	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.02301	4.35;4.35;4.35	2.31	2.31	0.28768	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.80746	2.51	0.19300	N	0.999977	D	0.60575	0.988	P	0.62491	0.903	T	0.09037	-1.0693	9	0.72032	D	0.01	.	6.6487	0.22949	0.0:0.7047:0.2953:0.0	.	45	Q2M218	ZN630_HUMAN	F	31;45;45	ENSP00000393163:V31F;ENSP00000386393:V45F;ENSP00000407278:V45F	ENSP00000386393:V45F	V	-	1	0	ZNF630	47805151	0.000000	0.05858	0.090000	0.20809	0.059000	0.15707	0.039000	0.13884	1.202000	0.43218	0.468000	0.43344	GTC		0.483	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		10	4	1	0	3.86212e-05	1	4.09979e-05	10	4				
UBC	7316	broad.mit.edu	37	12	125397475	125397475	+	Silent	SNP	C	C	T	rs11537760		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:125397475C>T	ENST00000536769.1	-	1	2419	c.843G>A	c.(841-843)ggG>ggA	p.G281G	UBC_ENST00000339647.5_Silent_p.G281G|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.G205G|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	281	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACAGGGTGCGCCCATCTTCCA	0.527													-|||	1	0.000199681	0.0	0.0014	5008	,	,		27416	0.0		0.0	False		,,,				2504	0.0					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(841-843)ggG>ggA		ubiquitin C							105.0	98.0	100.0					12																	125397475		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397475C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.843G>A	12.37:g.125397475C>T						UBC_ENST00000546120.1_Silent_p.G205G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G281G	p.G281G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2419	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		281			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.843G>A	CCDS9260.1																																																																																				0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		6	208	0	0	0	1	0	6	208				
CDK10	8558	broad.mit.edu	37	16	89753130	89753130	+	Silent	SNP	A	A	T	rs192221267	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:89753130A>T	ENST00000353379.7	+	1	55	c.12A>T	c.(10-12)ccA>ccT	p.P4P	RP11-368I7.4_ENST00000567544.1_5'Flank|CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	4					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGGCGGAGCCAGATCTGGAGT	0.697													G|||	7	0.00139776	0.0	0.0043	5008	,	,		8092	0.0		0.004	False		,,,				2504	0.0					ENST00000353379.7																			0				ovary(1)	1						c.(10-12)ccA>ccT		cyclin-dependent kinase 10		G	,,,	1,3899		0,1,1949	28.0	36.0	34.0		,,,12	-2.1	0.1	16		34	49,8235		1,47,4094	no	utr-5,utr-5,utr-5,coding-synonymous	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	,,,	1,48,6043	TT,TA,AA		0.5915,0.0256,0.4104	,,,	,,,4/361	89753130	50,12134	1950	4142	6092	SO:0001819	synonymous_variant	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89753130A>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.12A>T	16.37:g.89753130A>T						CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron	p.P4P	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	1	55	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	4					A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	c.12A>T	CCDS10984.2																																																																																				0.697	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			10	7	0	0	0	1	0	10	7				
FAM83G	644815	broad.mit.edu	37	17	18874945	18874945	+	Silent	SNP	G	G	A	rs200181954	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	ENST00000388995.6	-	6	2422	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	733					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0					ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2197-2199)aaC>aaT		family with sequence similarity 83, member G		G	,,	0,3884		0,0,1942	36.0	44.0	42.0		2199,,	-4.8	0.0	17		42	2,8228		0,2,4113	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,2,6055	AA,AG,GG		0.0243,0.0,0.0165	,,	733/824,,	18874945	2,12112	1942	4115	6057	SO:0001819	synonymous_variant	644815							g.chr17:18874945G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2199C>T	17.37:g.18874945G>A						SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.N733N	p.N733N			A6ND36	FA83G_HUMAN			6	2422	-			733					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2199C>T	CCDS42276.1																																																																																				0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			43	92	0	0	0	1	0	43	92				
LMF2	91289	broad.mit.edu	37	22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	ENST00000474879.2	-	7	1009	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|LMF2_ENST00000216080.5_Missense_Mutation_p.V307L|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(919-921)Gtg>Ttg		lipase maturation factor 2							59.0	67.0	64.0					22																	50943889		2203	4298	6501	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943889C>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.994G>T	22.37:g.50943889C>A	ENSP00000424381:p.Val332Leu					LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|LMF2_ENST00000474879.2_Missense_Mutation_p.V332L	p.V307L			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	1087	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	332					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.919G>T	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.16|11.16	1.555622|1.555622	0.27739|0.27739	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.12|5.12	1.74|1.74	0.24563|0.24563	.|.	.|0.377354	.|0.29403	.|N	.|0.012254	T|T	0.22044|0.22044	0.0531|0.0531	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18166	.|0.02;0.026	.|B;B	.|0.19666	.|0.026;0.015	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.33141	.|T	.|0.24	-17.1648|-17.1648	9.3842|9.3842	0.38333|0.38333	0.0:0.7545:0.0:0.2455|0.0:0.7545:0.0:0.2455	.|.	.|332;307	.|Q9BU23;Q9BU23-2	.|LMF2_HUMAN;.	F|L	338|332;332;307	.|ENSP00000370173:V332L;ENSP00000424381:V332L;ENSP00000216080:V307L	.|ENSP00000216080:V307L	C|V	-|-	2|1	0|0	LMF2|LMF2	49290755|49290755	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.796000|0.796000	0.44982|0.44982	-0.419000|-0.419000	0.07071|0.07071	0.153000|0.153000	0.19213|0.19213	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.662	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		63	114	1	0	2.93687e-30	1	3.3774e-30	63	114				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	39	0	0	0	1	0	3	39				
BCL9L	283149	broad.mit.edu	37	11	118771374	118771374	+	Silent	SNP	C	C	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:118771374C>A	ENST00000334801.3	-	6	4042	c.3078G>T	c.(3076-3078)ccG>ccT	p.P1026P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1026	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGTTGAGAGGCGGCTGCTTGT	0.627																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3076-3078)ccG>ccT		B-cell CLL/lymphoma 9-like							101.0	105.0	104.0					11																	118771374		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771374C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3078G>T	11.37:g.118771374C>A						BCL9L_ENST00000526143.1_5'UTR	p.P1026P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	4042	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1026			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.3078G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	5.851	0.341299	0.11069	.	.	ENSG00000186174	ENST00000530293	.	.	.	4.96	0.482	0.16815	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	-15.4195	2.9514	0.05862	0.1942:0.3927:0.0:0.4131	.	.	.	.	L	46	.	.	R	-	2	0	BCL9L	118276584	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	-0.056000	0.11787	0.222000	0.20900	0.655000	0.94253	CGC		0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		4	185	1	0	1	1	1	4	185				
PLCL2	23228	broad.mit.edu	37	3	17052272	17052272	+	Silent	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:17052272G>A	ENST00000418129.2	+	2	1521	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	PLCL2_ENST00000432376.1_Silent_p.P352P|PLCL2_ENST00000396755.2_Silent_p.P352P|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	478					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGATGGGCCGGACAATGAAC	0.433																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1054-1056)ccG>ccA		phospholipase C-like 2							116.0	107.0	110.0					3																	17052272		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052272G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1056G>A	3.37:g.17052272G>A						PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Silent_p.P352P|PLCL2_ENST00000432376.1_Silent_p.P352P	p.P352P	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1521	+			478					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.1056G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	2.885	-0.230994	0.05983	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.96	-7.39	0.01402	.	.	.	.	.	T	0.36441	0.0967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	3.392	0.07293	0.3528:0.2577:0.3053:0.0842	.	.	.	.	Q	96	.	.	R	+	2	0	PLCL2	17027276	0.589000	0.26807	0.831000	0.32960	0.877000	0.50540	-0.066000	0.11598	-1.156000	0.02818	-1.077000	0.02231	CGG		0.433	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			4	87	0	0	0	1	0	4	87				
MAPRE2	10982	broad.mit.edu	37	18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	ENST00000300249.5	+	3	560	c.380G>T	c.(379-381)cGa>cTa	p.R127L	MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R115L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(343-345)cGa>cTa		microtubule-associated protein, RP/EB family, member 2							64.0	63.0	63.0					18																	32677539		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677539G>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.380G>T	18.37:g.32677539G>T	ENSP00000300249:p.Arg127Leu					MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L	p.R115L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			4	618	+			127			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.344G>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124928	0.77436	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	5.88	0.94601	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.69823	2.125	0.58432	D	0.99999	P;D;D;P	0.60575	0.951;0.988;0.979;0.934	P;D;D;P	0.65684	0.857;0.937;0.927;0.543	T	0.63875	-0.6538	10	0.87932	D	0	-9.992	13.4298	0.61049	0.0718:0.0:0.9282:0.0	.	115;74;127;127	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	L	84;115;127;74	ENSP00000396074:R84L;ENSP00000407723:R115L;ENSP00000300249:R127L;ENSP00000446343:R74L	ENSP00000300249:R127L	R	+	2	0	MAPRE2	30931537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.062000	0.89475	2.782000	0.95742	0.585000	0.79938	CGA		0.343	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		19	15	1	0	1.01871e-10	1	1.11573e-10	19	15				
COL22A1	169044	broad.mit.edu	37	8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	ENST00000303045.6	-	52	4191	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3745-3747)Gga>Aga		collagen, type XXII, alpha 1							183.0	194.0	190.0					8																	139636001		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139636001C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3745G>A	8.37:g.139636001C>T	ENSP00000303153:p.Gly1249Arg	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R|COL22A1_ENST00000341807.4_5'UTR	p.G1249R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4191	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1249			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3745G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080408	0.55753	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	4.43	4.43	0.53597	.	0.000000	0.47852	U	0.000210	D	0.99501	0.9822	M	0.93720	3.45	0.49798	D	0.999828	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	12.8601	0.57908	0.0:1.0:0.0:0.0	.	1229;1249	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1249;1229;942	ENSP00000303153:G1249R;ENSP00000387655:G1229R	ENSP00000303153:G1249R	G	-	1	0	COL22A1	139705183	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.567000	0.53813	2.746000	0.94184	0.591000	0.81541	GGA		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		110	41	0	0	0	1	0	110	41				
PM20D1	148811	broad.mit.edu	37	1	205814452	205814452	+	Splice_Site	SNP	C	C	G			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	ENST00000367136.4	-	3	534		c.e3+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1						negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.e3+1		peptidase M20 domain containing 1							90.0	87.0	88.0					1																	205814452		2203	4300	6503	SO:0001630	splice_region_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814452C>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.489+1G>C	1.37:g.205814452C>G						PM20D1_ENST00000460624.1_Splice_Site		NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		3	534	-	Breast(84;0.201)							Q6P4E3|Q96DM4	Splice_Site	SNP	ENST00000367136.4	37		CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046058	0.36085	.	.	ENSG00000162877	ENST00000367136	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7726	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PM20D1	204081075	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.233000	0.78125	2.771000	0.95319	0.561000	0.74099	.		0.547	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	Intron	47	80	0	0	0	1	0	47	80				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000570718.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		13	23	0	0	0	1	0	13	23				
KRT23	25984	broad.mit.edu	37	17	39084770	39084770	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:39084770C>A	ENST00000209718.3	-	5	1150	c.726G>T	c.(724-726)gaG>gaT	p.E242D	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E105D	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	242	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GTCTCATATCCTCCAGGACCT	0.388																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(724-726)gaG>gaT		keratin 23 (histone deacetylase inducible)							210.0	205.0	207.0					17																	39084770		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39084770C>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.726G>T	17.37:g.39084770C>A	ENSP00000209718:p.Glu242Asp					KRT23_ENST00000436344.3_Missense_Mutation_p.E105D|AC004231.2_ENST00000418393.1_RNA	p.E242D	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			5	1150	-		Breast(137;0.000301)|Ovarian(249;0.15)	242			Coil 2.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.726G>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464245	0.43736	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.89123	-2.47;-2.47	5.5	2.02	0.26589	Filament (1);	0.126140	0.35407	N	0.003224	T	0.81288	0.4791	L	0.42487	1.325	0.33734	D	0.618574	P	0.40578	0.722	B	0.40825	0.341	T	0.76903	-0.2787	10	0.30078	T	0.28	.	3.0027	0.06018	0.3112:0.3361:0.0:0.3527	.	242	Q9C075	K1C23_HUMAN	D	242;105	ENSP00000209718:E242D;ENSP00000414056:E105D	ENSP00000209718:E242D	E	-	3	2	KRT23	36338296	0.931000	0.31567	0.966000	0.40874	0.958000	0.62258	0.006000	0.13152	0.132000	0.18615	0.655000	0.94253	GAG		0.388	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			5	216	1	0	1.23904e-05	1	1.33584e-05	5	216				
TXNDC16	57544	broad.mit.edu	37	14	52922041	52922041	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	ENST00000281741.4	-	18	2214		c.e18+1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.e18+1		thioredoxin domain containing 16							153.0	138.0	143.0					14																	52922041		2203	4300	6503	SO:0001630	splice_region_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52922041C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1842+1G>A	14.37:g.52922041C>T						TXNDC16_ENST00000554399.1_Intron		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			18	2214	-	Breast(41;0.0716)							A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37		CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519022	0.27211	.	.	ENSG00000087301	ENST00000281741	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0728	0.72053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	51991791	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.978000	0.56881	2.407000	0.81776	0.563000	0.77884	.		0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	22	33	0	0	0	1	0	22	33				
MAP4K4	9448	broad.mit.edu	37	2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	ENST00000347699.4	+	27	3263	c.3263A>G	c.(3262-3264)tAt>tGt	p.Y1088C	MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.Y1003C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1088	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3007-3009)tAt>tGt		mitogen-activated protein kinase kinase kinase kinase 4							113.0	110.0	111.0					2																	102503626		1943	4166	6109	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102503626A>G	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3263A>G	2.37:g.102503626A>G	ENSP00000314363:p.Tyr1088Cys					MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1088C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C	p.Y1003C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			26	3063	+			1088			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.3008A>G	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145324	0.77888	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.08	5.08	0.68730	Citron-like (3);	0.000000	0.64402	D	0.000001	T	0.28995	0.0720	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.993;0.999;0.999;0.993;0.999;1.0	T	0.08700	-1.0709	10	0.87932	D	0	.	14.8383	0.70201	1.0:0.0:0.0:0.0	.	1084;887;891;1006;1088;1121;1007;1060;1169	B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;M4K4_HUMAN;.;.;.;.	C	1121;1169;1007;891;1003;887;1088;1019;1128	ENSP00000392830:Y1121C;ENSP00000313644:Y1169C;ENSP00000281111:Y1007C;ENSP00000303600:Y891C;ENSP00000389752:Y1003C;ENSP00000387370:Y887C;ENSP00000314363:Y1088C;ENSP00000409720:Y1019C;ENSP00000343658:Y1128C	ENSP00000303600:Y891C	Y	+	2	0	MAP4K4	101870058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.906000	0.55180	0.455000	0.32223	TAT		0.423	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		6	14	0	0	0	1	0	6	14				
DDX43	55510	broad.mit.edu	37	6	74116160	74116160	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr6:74116160T>C	ENST00000370336.4	+	7	1039	c.881T>C	c.(880-882)tTg>tCg	p.L294S	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	294	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGAAAGACATTGTGTTATTTA	0.388																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(880-882)tTg>tCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							138.0	124.0	128.0					6																	74116160		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74116160T>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.881T>C	6.37:g.74116160T>C	ENSP00000359361:p.Leu294Ser					DDX43_ENST00000539829.1_3'UTR	p.L294S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			7	1039	+			294			Helicase ATP-binding.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.881T>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504531	0.64410	.	.	ENSG00000080007	ENST00000370336	T	0.17528	2.27	5.08	5.08	0.68730	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.45677	0.1354	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62334	-0.6876	10	0.87932	D	0	.	14.1087	0.65109	0.0:0.0:0.0:1.0	.	294	Q9NXZ2	DDX43_HUMAN	S	294	ENSP00000359361:L294S	ENSP00000359361:L294S	L	+	2	0	DDX43	74172881	1.000000	0.71417	0.808000	0.32385	0.562000	0.35680	6.979000	0.76154	2.041000	0.60428	0.460000	0.39030	TTG		0.388	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		4	59	0	0	0	1	0	4	59				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	86	0	0	0	1	0	4	86				
KHDRBS2	202559	broad.mit.edu	37	6	62611195	62611195	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr6:62611195C>G	ENST00000281156.4	-	5	843	c.565G>C	c.(565-567)Ggt>Cgt	p.G189R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCTAATACCTCTGCCACGA	0.408																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(565-567)Ggt>Cgt		KH domain containing, RNA binding, signal transduction associated 2							115.0	114.0	114.0					6																	62611195		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611195C>G	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.565G>C	6.37:g.62611195C>G	ENSP00000281156:p.Gly189Arg						p.G189R	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	843	-			189					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.565G>C	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475289	0.43942	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.15718	2.4	5.97	5.06	0.68205	.	0.095230	0.64402	D	0.000001	T	0.12817	0.0311	M	0.62723	1.935	0.42909	D	0.99425	P	0.43885	0.82	B	0.41813	0.367	T	0.02991	-1.1085	10	0.26408	T	0.33	-3.2797	16.0252	0.80538	0.1349:0.8651:0.0:0.0	.	189	Q5VWX1	KHDR2_HUMAN	R	189	ENSP00000281156:G189R	ENSP00000281156:G189R	G	-	1	0	KHDRBS2	62669154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.974000	0.40559	2.836000	0.97738	0.655000	0.94253	GGT		0.408	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		37	67	0	0	0	1	0	37	67				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	153	0	0	0	1	0	5	153				
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	rs587780068		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	ENST00000269305.4	-	5	661	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000420246.2_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCATGGCGCGGACGCGGGTG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004341	TP53	M		c.(472-474)Cgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	51.0					17																	7578458		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578458G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.472C>G	17.37:g.7578458G>C	ENSP00000269305:p.Arg158Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000269305.4_Missense_Mutation_p.R158G	p.R158G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	604	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.472C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;0.998;0.996;0.994;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158G;ENSP00000352610:R158G;ENSP00000269305:R158G;ENSP00000398846:R158G;ENSP00000391127:R158G;ENSP00000391478:R158G;ENSP00000425104:R26G;ENSP00000423862:R65G;ENSP00000424104:R158G	ENSP00000269305:R158G	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		80	17	0	0	0	1	0	80	17				
KIDINS220	57498	broad.mit.edu	37	2	8958894	8958894	+	Silent	SNP	G	G	A	rs377042462		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	ENST00000256707.3	-	3	319	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_ENST00000319688.5_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(136-138)gcC>gcT		kinase D-interacting substrate, 220kDa		G		0,3700		0,0,1850	103.0	102.0	103.0		138	-5.2	0.3	2		103	1,8195		0,1,4097	no	coding-synonymous	KIDINS220	NM_020738.2		0,1,5947	AA,AG,GG		0.0122,0.0,0.0084		46/1772	8958894	1,11895	1850	4098	5948	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8958894G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.138C>T	2.37:g.8958894G>A						KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000319688.5_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A	p.A46A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			3	319	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		46					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.138C>T	CCDS42650.1																																																																																				0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		36	41	0	0	0	1	0	36	41				
B4GALNT2	124872	broad.mit.edu	37	17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:47247083C>T	ENST00000300404.2	+	11	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAATGTGCCGCATAAAGG	0.512																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gCc>gTc		beta-1,4-N-acetyl-galactosaminyl transferase 2							64.0	52.0	56.0					17																	47247083		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247083C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1694C>T	17.37:g.47247083C>T	ENSP00000300404:p.Ala565Val					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V	p.A565V	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1753	+			565					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1694C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166068	0.38217	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.21191	2.02;2.02;2.32	5.79	-0.177	0.13307	.	1.098330	0.06882	N	0.802683	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.082;0.085	B;B	0.21917	0.037;0.016	T	0.37407	-0.9707	10	0.17832	T	0.49	-1.9854	0.7377	0.00968	0.1723:0.3494:0.1469:0.3313	.	505;565	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	V	479;505;565	ENSP00000425510:A479V;ENSP00000377022:A505V;ENSP00000300404:A565V	ENSP00000300404:A565V	A	+	2	0	B4GALNT2	44602082	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.708000	0.25719	0.351000	0.24027	0.561000	0.74099	GCC		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		3	35	0	0	0	1	0	3	35				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T315T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367484.3_Intron	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		9	130	0	0	0	1	0	9	130				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	31	0	0	0	1	0	3	31				
UMPS	7372	broad.mit.edu	37	3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	ENST00000232607.2	+	1	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	46	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATCGTGTCTCGACCGCGTCTT	0.587																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(136-138)cGa>cTa		uridine monophosphate synthetase							70.0	61.0	64.0					3																	124449455		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449455G>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.137G>T	3.37:g.124449455G>T	ENSP00000232607:p.Arg46Leu					UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000413078.2_5'UTR	p.R46L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	243	+			46			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.137G>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219987	0.39201	.	.	ENSG00000114491	ENST00000232607	D	0.99311	-5.73	5.15	2.36	0.29203	Phosphoribosyltransferase (1);	0.298098	0.32578	N	0.005912	D	0.96513	0.8862	L	0.34521	1.04	0.49483	D	0.999795	B	0.06786	0.001	B	0.16722	0.016	D	0.91748	0.5410	10	0.33141	T	0.24	-2.6644	4.655	0.12613	0.2963:0.0:0.5555:0.1482	.	46	P11172	UMPS_HUMAN	L	46	ENSP00000232607:R46L	ENSP00000232607:R46L	R	+	2	0	UMPS	125932145	0.971000	0.33674	0.993000	0.49108	0.997000	0.91878	3.505000	0.53356	0.315000	0.23110	0.563000	0.77884	CGA		0.587	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		45	58	1	0	9.84934e-19	1	1.11411e-18	45	58				
USP37	57695	broad.mit.edu	37	2	219418446	219418446	+	Splice_Site	SNP	A	A	G			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	ENST00000258399.3	-	5	570	c.158T>C	c.(157-159)cTa>cCa	p.L53P	USP37_ENST00000418019.1_Splice_Site_p.L53P|USP37_ENST00000454775.1_Splice_Site_p.L53P|USP37_ENST00000338465.5_Splice_Site_p.L53P|USP37_ENST00000415516.1_5'UTR	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	53					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.e5-1		ubiquitin specific peptidase 37							62.0	61.0	61.0					2																	219418446		2203	4300	6503	SO:0001630	splice_region_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418446A>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.157-1T>C	2.37:g.219418446A>G						USP37_ENST00000418019.1_Splice_Site_p.L53_splice|USP37_ENST00000454775.1_Splice_Site_p.L53_splice|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000338465.5_Splice_Site_p.L53_splice	p.L53_splice	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	570	-		Renal(207;0.0915)	53					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37	c.156_splice	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739943	0.69304	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019;ENST00000338465	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.85	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	D	0.85309	0.5667	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87160	0.2214	10	0.87932	D	0	-6.0555	13.8973	0.63781	1.0:0.0:0.0:0.0	.	53;53	Q86W68;Q86T82	.;UBP37_HUMAN	P	53	ENSP00000258399:L53P;ENSP00000393662:L53P;ENSP00000396585:L53P;ENSP00000345043:L53P	ENSP00000258399:L53P	L	-	2	0	USP37	219126690	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.914000	0.69964	2.023000	0.59567	0.533000	0.62120	CTA		0.318	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Missense_Mutation	14	8	0	0	0	1	0	14	8				
DGKE	8526	broad.mit.edu	37	17	54912526	54912526	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:54912526C>T	ENST00000284061.3	+	2	550	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Missense_Mutation_p.P124S|C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	124					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGACGCCATGCCCCACCACTG	0.587																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(370-372)Ccc>Tcc		diacylglycerol kinase, epsilon 64kDa							82.0	70.0	74.0					17																	54912526		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912526C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.370C>T	17.37:g.54912526C>T	ENSP00000284061:p.Pro124Ser					DGKE_ENST00000572810.1_Missense_Mutation_p.P124S|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	p.P124S	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			2	550	+	Breast(9;3.59e-07)		124					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.370C>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600574	0.28534	.	.	ENSG00000153933	ENST00000284061	D	0.84800	-1.9	5.51	3.34	0.38264	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.431284	0.26307	N	0.025136	T	0.81992	0.4940	M	0.70595	2.14	0.28288	N	0.9237	B;B	0.10296	0.003;0.003	B;B	0.17098	0.017;0.017	T	0.67039	-0.5771	10	0.08381	T	0.77	.	14.3829	0.66923	0.0:0.5908:0.4092:0.0	.	124;124	A1L4Q0;P52429	.;DGKE_HUMAN	S	124	ENSP00000284061:P124S	ENSP00000284061:P124S	P	+	1	0	DGKE	52267525	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.973000	0.40550	1.253000	0.44018	0.655000	0.94253	CCC		0.587	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		4	105	0	0	0	1	0	4	105				
KCNIP2	30819	broad.mit.edu	37	10	103587693	103587693	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr10:103587693C>T	ENST00000356640.2	-	8	930	c.655G>A	c.(655-657)Gca>Aca	p.A219T	KCNIP2_ENST00000461105.1_Missense_Mutation_p.A234T|KCNIP2_ENST00000358038.3_Missense_Mutation_p.A201T|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.A169T|KCNIP2_ENST00000370046.1_Missense_Mutation_p.A133T|KCNIP2_ENST00000348850.5_Missense_Mutation_p.A174T|KCNIP2_ENST00000353068.3_Missense_Mutation_p.A176T|KCNIP2-AS1_ENST00000412353.1_RNA	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	219					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TCCCGGAGTGCAGGGTACGTG	0.552																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(601-603)Gca>Aca		Kv channel interacting protein 2							122.0	108.0	113.0					10																	103587693		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103587693C>T		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.655G>A	10.37:g.103587693C>T	ENSP00000349055:p.Ala219Thr					KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000348850.5_Missense_Mutation_p.A174T|KCNIP2_ENST00000356640.2_Missense_Mutation_p.A219T|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000353068.3_Missense_Mutation_p.A176T|KCNIP2_ENST00000343195.4_Missense_Mutation_p.A169T|KCNIP2_ENST00000461105.1_Missense_Mutation_p.A234T|KCNIP2_ENST00000370046.1_Missense_Mutation_p.A133T	p.A201T	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	7	952	-		Colorectal(252;0.122)	219			EF-hand 3.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.601G>A	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180454	0.38511	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;0.98;-0.23;-0.23;-0.23;-0.23	4.95	4.95	0.65309	EF-hand-like domain (1);	0.123174	0.64402	D	0.000018	T	0.47838	0.1467	N	0.17278	0.47	0.37251	D	0.906563	B;B;B;B;B;B;B;B;B;B;B;B;B	0.20780	0.007;0.001;0.005;0.0;0.0;0.0;0.012;0.002;0.012;0.009;0.003;0.005;0.048	B;B;B;B;B;B;B;B;B;B;B;B;B	0.16289	0.012;0.008;0.015;0.003;0.006;0.003;0.003;0.003;0.005;0.008;0.008;0.006;0.013	T	0.49000	-0.8984	10	0.23302	T	0.38	.	11.7962	0.52102	0.0:0.9201:0.0:0.0799	.	133;174;163;165;169;169;201;176;234;219;150;174;126	Q9NS61-9;B4DW99;B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	T	174;201;150;201;219;133;126;176;234;169;133	ENSP00000239118:A174T;ENSP00000350733:A201T;ENSP00000349055:A219T;ENSP00000359063:A133T;ENSP00000411679:A126T;ENSP00000341624:A176T;ENSP00000420040:A234T;ENSP00000344169:A169T;ENSP00000239117:A133T	ENSP00000239117:A133T	A	-	1	0	KCNIP2	103577683	0.807000	0.29009	1.000000	0.80357	0.908000	0.53690	0.812000	0.27211	2.571000	0.86741	0.561000	0.74099	GCA		0.552	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			4	68	0	0	0	1	0	4	68				
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T417P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1249-1251)Acc>Ccc		proteoglycan 4																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276100A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1249A>C	1.37:g.186276100A>C	ENSP00000399679:p.Thr417Pro					PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367484.3_Intron	p.T417P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1294	+			417			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1249A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.624	0.483511	0.12581	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.57;3.67;3.52;3.69	3.27	-6.55	0.01854	.	.	.	.	.	T	0.01353	0.0044	N	0.00332	-1.63	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.49293	-0.8955	8	.	.	.	.	10.0961	0.42475	0.609:0.2011:0.1899:0.0	.	283;324;417;376	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	374;283;376;324;417	ENSP00000356456:T374P;ENSP00000356453:T376P;ENSP00000356455:T324P;ENSP00000399679:T417P	.	T	+	1	0	PRG4	184542723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.241000	0.00709	-2.624000	0.00155	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	121	0	0	0	1	0	5	121				
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	p.0?(8)|p.R2450*(6)|p.?(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000998|CM000818	NF1	D|M		c.(7348-7350)Cga>Tga		neurofibromin 1							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677227C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	p.R2450*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7731	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2450					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7348C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		34	45	0	0	0	1	0	34	45				
DYM	54808	broad.mit.edu	37	18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	ENST00000269445.6	-	9	1356	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_ENST00000442713.2_Missense_Mutation_p.A110V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(898-900)gCg>gTg		dymeclin																																				SO:0001583	missense	54808					Golgi apparatus		g.chr18:46812851G>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.899C>T	18.37:g.46812851G>A	ENSP00000269445:p.Ala300Val					DYM_ENST00000442713.2_Missense_Mutation_p.A110V	p.A300V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			9	1356	-			300					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.899C>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	4.654	0.121519	0.08881	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.83075	-1.68;-1.68	5.82	3.07	0.35406	.	0.534254	0.23386	N	0.048756	T	0.62429	0.2427	N	0.12182	0.205	0.19945	N	0.999947	B;B;B	0.20988	0.05;0.0;0.036	B;B;B	0.16722	0.016;0.002;0.005	T	0.45145	-0.9281	10	0.10111	T	0.7	-2.5952	6.3381	0.21306	0.2143:0.1317:0.654:0.0	.	110;122;300	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	V	110;300	ENSP00000395942:A110V;ENSP00000269445:A300V	ENSP00000269445:A300V	A	-	2	0	DYM	45066849	0.044000	0.20184	0.001000	0.08648	0.035000	0.12851	2.410000	0.44592	0.375000	0.24679	-0.137000	0.14449	GCG		0.488	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		67	89	0	0	0	1	0	67	89				
IGF1R	3480	broad.mit.edu	37	15	99434555	99434555	+	Splice_Site	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	ENST00000268035.6	+	3	1253	c.642G>A	c.(640-642)atG>atA	p.M214I	IGF1R_ENST00000558762.1_Splice_Site_p.M214I|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	214					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCCACAGTGTGCCCAAGCA	0.647																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e3-1		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						28.0	24.0	25.0					15																	99434555		2196	4297	6493	SO:0001630	splice_region_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99434555G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.641-1G>A	15.37:g.99434555G>A						RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Splice_Site_p.M214_splice	p.M214_splice	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	1253	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		214					B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	c.640_splice	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118690	0.20877	.	.	ENSG00000140443	ENST00000268035	D	0.97186	-4.28	5.12	2.1	0.27182	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.428542	0.23222	N	0.050560	D	0.91168	0.7218	N	0.13098	0.295	0.39066	D	0.960613	B;B	0.14012	0.009;0.0	B;B	0.16722	0.016;0.006	T	0.83277	-0.0040	10	0.21540	T	0.41	.	10.0243	0.42061	0.0713:0.2615:0.6672:0.0	.	214;214	C9J5X1;P08069	.;IGF1R_HUMAN	I	214	ENSP00000268035:M214I	ENSP00000268035:M214I	M	+	3	0	IGF1R	97252078	1.000000	0.71417	0.999000	0.59377	0.469000	0.32828	1.295000	0.33377	0.231000	0.21079	0.561000	0.74099	ATG		0.647	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Missense_Mutation	18	14	0	0	0	1	0	18	14				
CCDC88B	283234	broad.mit.edu	37	11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	ENST00000356786.5	+	22	3837	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3793-3795)Gag>Cag		coiled-coil domain containing 88B							25.0	33.0	30.0					11																	64120928		2200	4296	6496	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120928G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3793G>C	11.37:g.64120928G>C	ENSP00000349238:p.Glu1265Gln					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q	p.E1265Q	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			22	3837	+			1265					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3793G>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	17.47	3.397124	0.62177	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.60299	0.2;0.2	3.45	3.45	0.39498	.	.	.	.	.	T	0.55016	0.1894	N	0.17082	0.46	0.80722	D	1	D;D;P;D	0.69078	0.993;0.997;0.782;0.993	P;P;B;P	0.61592	0.722;0.891;0.187;0.722	T	0.56842	-0.7912	9	0.49607	T	0.09	.	10.5684	0.45186	0.0:0.0:1.0:0.0	.	1265;1147;401;1265	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	Q	1147;1265;417	ENSP00000349238:E1265Q;ENSP00000352974:E417Q	ENSP00000349238:E1265Q	E	+	1	0	CCDC88B	63877504	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.218000	0.65257	1.915000	0.55452	0.407000	0.27541	GAG		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		33	43	0	0	0	1	0	33	43				
APEH	327	broad.mit.edu	37	3	49723551	49723551	+	IGR	SNP	A	A	G	rs199957562		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:49723551A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.M364T|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.M350T(3)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCGCGCGCATGCCGGGCCG	0.667																																						ENST00000449682.2																			3	Substitution - Missense(3)	p.M350T(3)	NS(2)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1090-1092)aTg>aCg		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723551		2196	4289	6485	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723551A>G	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723551A>G						MST1_ENST00000383728.3_3'UTR	p.M364T	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1452	-			350					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1091T>C	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937159	0.52972	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	4.17	0.49024	.	0.132069	0.34338	N	0.004055	T	0.35508	0.0934	N	0.04805	-0.155	0.80722	D	1	B	0.09022	0.002	B	0.17979	0.02	T	0.24083	-1.0170	10	0.51188	T	0.08	.	10.9733	0.47450	0.86:0.0:0.0:0.14	.	364	G3XAK1	.	T	364	ENSP00000414287:M364T	ENSP00000414287:M364T	M	-	2	0	MST1	49698555	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	7.395000	0.79876	2.042000	0.60477	0.533000	0.62120	ATG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	27	0	0	0	1	0	4	27				
GSPT2	23708	broad.mit.edu	37	X	51488255	51488255	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	ENST00000340438.4	+	1	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	511					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1531-1533)gaT>gaA		G1 to S phase transition 2							123.0	103.0	110.0					X																	51488255		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488255T>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1533T>A	X.37:g.51488255T>A	ENSP00000341247:p.Asp511Glu						p.D511E	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1775	+	Ovarian(276;0.236)		511					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1533T>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227121	0.22542	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.32753	1.44	4.74	-4.2	0.03823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.212008	0.47852	N	0.000220	T	0.23451	0.0567	M	0.67625	2.065	0.32851	D	0.506601	B	0.02656	0.0	B	0.04013	0.001	T	0.02333	-1.1175	10	0.62326	D	0.03	-11.8823	4.7791	0.13194	0.2342:0.3219:0.0:0.444	.	511	Q8IYD1	ERF3B_HUMAN	E	511;428	ENSP00000341247:D511E	ENSP00000341247:D511E	D	+	3	2	GSPT2	51504995	0.000000	0.05858	0.266000	0.24541	0.972000	0.66771	-0.322000	0.08007	-1.122000	0.02945	-1.043000	0.02367	GAT		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			34	13	0	0	0	1	0	34	13				
ATRX	546	broad.mit.edu	37	X	76813115	76813115	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	ENST00000373344.5	-	30	6720	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	ATRX_ENST00000395603.3_Splice_Site_p.G2131E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2169	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCATGGTTCCCTTTGTAAA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e30-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						99.0	88.0	92.0					X																	76813115		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813115C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6505-1G>A	X.37:g.76813115C>T						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131_splice	p.G2169_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6720	-			2169			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.6504_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563416	0.65651	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93133	-3.17;-3.17	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97297	0.9928	10	0.72032	D	0.01	-13.8181	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2131;2169	P46100-4;P46100	.;ATRX_HUMAN	E	2169;2131	ENSP00000362441:G2169E;ENSP00000378967:G2131E	ENSP00000362441:G2169E	G	-	2	0	ATRX	76699771	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	GGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	36	12	0	0	0	1	0	36	12				
ACACA	31	broad.mit.edu	37	17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	ENST00000394406.2	-	28	3632	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1185T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1148					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3553-3555)Gca>Aca		acetyl-CoA carboxylase alpha	Biotin(DB00121)						200.0	179.0	186.0					17																	35580444		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35580444C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3442G>A	17.37:g.35580444C>T	ENSP00000377928:p.Ala1148Thr					ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1148T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T	p.A1185T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			28	4034	-		Breast(25;0.00157)|Ovarian(249;0.15)	1148					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3553G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404969	0.96051	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.71	5.71	0.89125	Acetyl-CoA carboxylase, central domain (1);	0.049621	0.85682	D	0.000000	D	0.83746	0.5321	M	0.92507	3.315	0.80722	D	1	P;P;P	0.49358	0.923;0.798;0.759	P;P;P	0.55749	0.783;0.615;0.48	D	0.86718	0.1940	10	0.59425	D	0.04	-13.555	18.0482	0.89340	0.0:1.0:0.0:0.0	.	1185;1148;1090	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1185;1090;1148;1172;1070	ENSP00000344789:A1185T;ENSP00000353898:A1090T;ENSP00000377928:A1148T;ENSP00000335323:A1070T	ENSP00000335323:A1070T	A	-	1	0	ACACA	32654557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCA		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		28	68	0	0	0	1	0	28	68				
LILRA1	11024	broad.mit.edu	37	19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	ENST00000251372.3	+	7	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	396	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587																																						ENST00000251372.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(1186-1188)aGg>aAg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							145.0	132.0	136.0					19																	55107882		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107882G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1187G>A	19.37:g.55107882G>A	ENSP00000251372:p.Arg396Lys					LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	p.R396K	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1369	+			396			Ig-like C2-type 4.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1187G>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447245	0.43429	.	.	ENSG00000104974	ENST00000251372	T	0.03065	4.06	1.8	-0.653	0.11447	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.471727	0.15809	N	0.243546	T	0.17408	0.0418	M	0.94063	3.49	0.25676	N	0.98584	D	0.63880	0.993	D	0.67382	0.951	T	0.03630	-1.1018	10	0.87932	D	0	.	4.4027	0.11393	0.3901:0.0:0.6099:0.0	.	396	O75019	LIRA1_HUMAN	K	396	ENSP00000251372:R396K	ENSP00000251372:R396K	R	+	2	0	LILRA1	59799694	0.997000	0.39634	0.415000	0.26534	0.024000	0.10985	0.912000	0.28597	-0.077000	0.12752	0.205000	0.17691	AGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		58	98	0	0	0	1	0	58	98				
MYH2	4620	broad.mit.edu	37	17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A	rs527337606		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	ENST00000245503.5	-	13	1544	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	MYH2_ENST00000532183.2_Missense_Mutation_p.A387V|MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	387	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A387V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0					ENST00000245503.5																			1	Substitution - Missense(1)	p.A387V(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1159-1161)gCg>gTg		myosin, heavy chain 2, skeletal muscle, adult							88.0	90.0	89.0					17																	10442867		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442867G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1160C>T	17.37:g.10442867G>A	ENSP00000245503:p.Ala387Val					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|MYH2_ENST00000532183.1_Missense_Mutation_p.A387V	p.A387V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			13	1544	-			387			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1160C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459682	0.43736	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.86366	-2.11;-2.11;-2.11	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.39020	U	0.001488	D	0.85128	0.5626	L	0.28054	0.825	0.48511	D	0.999666	B;P	0.51791	0.008;0.948	B;P	0.54431	0.003;0.752	T	0.80527	-0.1343	10	0.08381	T	0.77	.	17.6807	0.88242	0.0:0.0:1.0:0.0	.	387;387	Q567P6;Q9UKX2	.;MYH2_HUMAN	V	387	ENSP00000433944:A387V;ENSP00000245503:A387V;ENSP00000380367:A387V	ENSP00000245503:A387V	A	-	2	0	MYH2	10383592	0.962000	0.33011	0.986000	0.45419	0.883000	0.51084	3.669000	0.54561	2.653000	0.90120	0.585000	0.79938	GCG		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		110	23	0	0	0	1	0	110	23				
ITGA2B	3674	broad.mit.edu	37	17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	ENST00000262407.5	-	20	2013	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	661					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1981-1983)gTc>gGc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						25.0	27.0	26.0					17																	42455842		2203	4299	6502	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455842A>C		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1982T>G	17.37:g.42455842A>C	ENSP00000262407:p.Val661Gly					ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	20	2013	-		Prostate(33;0.0181)	661					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1982T>G	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209991	0.58343	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.45276	0.9;0.9	5.12	5.12	0.69794	Integrin alpha-2 (1);	0.000000	0.32015	N	0.006705	T	0.61640	0.2363	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.64595	0.927;0.91	T	0.61367	-0.7077	10	0.26408	T	0.33	.	12.9241	0.58249	1.0:0.0:0.0:0.0	.	259;661	Q59FA8;P08514	.;ITA2B_HUMAN	G	661	ENSP00000262407:V661G;ENSP00000340536:V661G	ENSP00000262407:V661G	V	-	2	0	ITGA2B	39811368	0.220000	0.23631	0.942000	0.38095	0.256000	0.26092	2.434000	0.44802	2.163000	0.67991	0.533000	0.62120	GTC		0.657	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			17	23	0	0	0	1	0	17	23				
CAPN3	825	broad.mit.edu	37	15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	ENST00000397163.3	+	2	565	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	116	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(346-348)Gcc>Tcc		calpain 3, (p94)							136.0	129.0	131.0					15																	42676717		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42676717G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.346G>T	15.37:g.42676717G>T	ENSP00000380349:p.Ala116Ser					CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|RP11-164J13.1_ENST00000495723.1_RNA	p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	2	565	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	116			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.346G>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397777	0.96009	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51	5.5	5.5	0.81552	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.993;0.996;0.997;0.994	D;D;D;D;D;D	0.97110	1.0;0.999;0.993;0.998;0.999;0.999	D	0.99655	1.0992	10	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	29;29;116;116;116;29	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	29;116;116;116;116	ENSP00000348667:A29S;ENSP00000380349:A116S;ENSP00000350181:A116S;ENSP00000183936:A116S;ENSP00000326281:A116S	ENSP00000326281:A116S	A	+	1	0	CAPN3	40464009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.591000	0.87537	0.650000	0.86243	GCC		0.433	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			21	70	1	0	1.50039e-11	1	1.66979e-11	21	70				
KDM4D	55693	broad.mit.edu	37	11	94731255	94731255	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:94731255C>T	ENST00000335080.5	+	3	1551	c.719C>T	c.(718-720)gCc>gTc	p.A240V	KDM4D_ENST00000536741.1_Missense_Mutation_p.A240V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	240	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTTGTGGGGCCTTCCTGCGG	0.597																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(718-720)gCc>gTc		lysine (K)-specific demethylase 4D							42.0	45.0	44.0					11																	94731255		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731255C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.719C>T	11.37:g.94731255C>T	ENSP00000334181:p.Ala240Val					KDM4D_ENST00000536741.1_Missense_Mutation_p.A240V	p.A240V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1551	+			240			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.719C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411898	0.83340	.	.	ENSG00000186280	ENST00000335080	T	0.73047	-0.71	3.73	2.78	0.32641	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	U	0.000003	D	0.82995	0.5158	M	0.92738	3.34	0.48762	D	0.999705	D	0.59357	0.985	P	0.56960	0.81	D	0.85534	0.1211	10	0.62326	D	0.03	-20.9094	10.5851	0.45278	0.194:0.806:0.0:0.0	.	240	Q6B0I6	KDM4D_HUMAN	V	240	ENSP00000334181:A240V	ENSP00000334181:A240V	A	+	2	0	KDM4D	94370903	1.000000	0.71417	0.968000	0.41197	0.883000	0.51084	7.020000	0.76419	1.115000	0.41800	0.462000	0.41574	GCC		0.597	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		33	74	0	0	0	1	0	33	74				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	19	0	0	0	1	0	3	19				
MALAT1	378938	broad.mit.edu	37	11	65268705	65268705	+	lincRNA	SNP	G	G	T			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:65268705G>T	ENST00000534336.1	+	0	3473				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTTTTTTTTGTGGGGGTGGG	0.393																																						ENST00000534336.1																			0																				38.0	44.0	42.0					11																	65268705		874	1988	2862			0							g.chr11:65268705G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268705G>T								NR_002819.2						0	3473	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.393	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	35	1	0	8.12818e-05	1	8.49765e-05	7	35				
GUCY2C	2984	broad.mit.edu	37	12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	rs148314105		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	ENST00000261170.3	-	18	2093	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGGCTTGGCGGAGGTGCTCT	0.498																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1957-1959)Cgc>Tgc		guanylate cyclase 2C (heat stable enterotoxin receptor)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	105.0	111.0		1957	4.4	1.0	12	dbSNP_134	111	0,8600		0,0,4300	no	missense	GUCY2C	NM_004963.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	653/1074	14794127	1,13005	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14794127G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1957C>T	12.37:g.14794127G>A	ENSP00000261170:p.Arg653Cys						p.R653C	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			18	2093	-			653			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1957C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305444	0.81247	2.27E-4	0.0	ENSG00000070019	ENST00000261170	D	0.83419	-1.72	5.34	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91727	0.5393	10	0.87932	D	0	.	15.3438	0.74317	0.0:0.0:0.8597:0.1403	.	653	P25092	GUC2C_HUMAN	C	653	ENSP00000261170:R653C	ENSP00000261170:R653C	R	-	1	0	GUCY2C	14685394	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	3.857000	0.55972	2.495000	0.84180	0.655000	0.94253	CGC		0.498	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			45	62	0	0	0	1	0	45	62				
KRTAP5-1	387264	broad.mit.edu	37	11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(313-315)tCc>tGc		keratin associated protein 5-1							35.0	50.0	45.0					11																	1606166		2143	4251	6394	SO:0001583	missense	387264					keratin filament		g.chr11:1606166G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.314C>G	11.37:g.1606166G>C	ENSP00000371606:p.Ser105Cys					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.S105C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	347	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	105			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.314C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543703	0.04053	.	.	ENSG00000205869	ENST00000382171	T	0.04603	3.59	3.68	-4.47	0.03525	.	.	.	.	.	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36187	-0.9758	9	0.72032	D	0.01	.	18.0282	0.89275	0.0:0.7506:0.2494:0.0	.	105	Q6L8H4	KRA51_HUMAN	C	105	ENSP00000371606:S105C	ENSP00000371606:S105C	S	-	2	0	KRTAP5-1	1562742	0.023000	0.18921	0.001000	0.08648	0.004000	0.04260	0.000000	0.12993	-0.646000	0.05452	-0.643000	0.03959	TCC		0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	100	0	0	0	1	0	6	100				
CCDC66	285331	broad.mit.edu	37	3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G	rs553667522	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	ENST00000394672.3	+	9	1223	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A|CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	385					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.002					ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1153-1155)Aca>Gca		coiled-coil domain containing 66							105.0	93.0	97.0					3																	56627603		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627603A>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1153A>G	3.37:g.56627603A>G	ENSP00000378167:p.Thr385Ala					CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A|CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A	p.T385A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	9	1223	+			385					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1153A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	5.383	0.255918	0.10185	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24151	1.88;1.87;1.87;1.87	5.91	-0.452	0.12205	.	0.749500	0.12738	N	0.443249	T	0.19406	0.0466	L	0.43152	1.355	0.09310	N	0.999996	B	0.14438	0.01	B	0.13407	0.009	T	0.26430	-1.0103	10	0.26408	T	0.33	-0.4031	9.4668	0.38817	0.665:0.0:0.335:0.0	.	385	A2RUB6	CCD66_HUMAN	A	341;385;351;385	ENSP00000401451:T341A;ENSP00000378167:T385A;ENSP00000326050:T351A;ENSP00000404320:T385A	ENSP00000326050:T351A	T	+	1	0	CCDC66	56602643	0.016000	0.18221	0.000000	0.03702	0.166000	0.22503	0.389000	0.20751	-0.284000	0.09102	0.533000	0.62120	ACA		0.453	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		14	28	0	0	0	1	0	14	28				
UGT2A3	79799	broad.mit.edu	37	4	69796916	69796916	+	Silent	SNP	G	G	A			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr4:69796916G>A	ENST00000251566.4	-	4	1071	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	UGT2A3_ENST00000420231.2_Silent_p.A58A	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	347					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCGAGTATTGGCTCCTAATG	0.368																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1039-1041)gcC>gcT		UDP glucuronosyltransferase 2 family, polypeptide A3							168.0	145.0	153.0					4																	69796916		2203	4300	6503	SO:0001819	synonymous_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796916G>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1041C>T	4.37:g.69796916G>A						UGT2A3_ENST00000420231.2_Silent_p.A58A	p.A347A	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			4	1071	-			347					Q9H6S4	Silent	SNP	ENST00000251566.4	37	c.1041C>T	CCDS3525.1																																																																																				0.368	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		16	19	0	0	0	1	0	16	19				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000355292.3_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	4	0	0	0	1	0	4	4				
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		7	299						7	299	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		7	206						7	206	---	---	---	---
OR10J8P	343409	broad.mit.edu	37	1	159336052	159336052	+	RNA	DEL	G	G	-			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:159336052delG	ENST00000431862.1	-	0	227																											TTCTTACGTTGTACATATTCT	0.423																																						ENST00000431862.1																			0																																																			0							g.chr1:159336052delG																													1.37:g.159336052delG														0	227	-									RNA	DEL	ENST00000431862.1	37																																																																																						0.423	RP11-550P17.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000090626.1			2	4						2	4	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	161						7	161	---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991294	9991301	+	Frame_Shift_Del	DEL	GGAACTGT	GGAACTGT	-			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:9991294_9991301delGGAACTGT	ENST00000412055.1	-	2	628_635	c.499_506delACAGTTCC	c.(499-507)acagttcctfs	p.TVP167fs	PRRT3_ENST00000411976.2_Frame_Shift_Del_p.TVP167fs|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	167						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CAGGGAGGGAGGAACTGTGGCTACCCTG	0.577																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(499-507)tfs		proline-rich transmembrane protein 3																																				SO:0001589	frameshift_variant	285368					integral to membrane		g.chr3:9991294_9991301delGGAACTGT	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.499_506delACAGTTCC	3.37:g.9991294_9991301delGGAACTGT	ENSP00000392511:p.Thr167fs					PRRT3_ENST00000411976.2_Frame_Shift_Del_p.TVP167fs|PRRT3-AS1_ENST00000431558.1_RNA	p.TVP167fs	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	628_635	-			167					Q49AD0|Q6UXY6|Q8NBC9	Frame_Shift_Del	DEL	ENST00000412055.1	37	c.499_506delACAGTTCC	CCDS43049.1																																																																																				0.577	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		24	103						24	103	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		4	4						4	4	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000424685.2_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227								reelin																																				SO:0001582	initiator_codon_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629803_103629804insGCCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC						RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	0	159_160	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Translation_Start_Site	INS	ENST00000428762.1	37		CCDS47680.1																																																																																				0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	27						7	27	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3594163delA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594163delA						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	3261	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	DEL	ENST00000301749.7	37																																																																																						0.488	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		6	5						6	5	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5626-5628)cccfs	p.P1876fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P1718fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P1814fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1876	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5623-5628)caccccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736370_30736371insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633dupC	16.37:g.30736378_30736378dupC	ENSP00000262518:p.Pro1876fs					SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs	p.HP1875fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6010_6011	+			1875			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.5625_5626insC	CCDS10689.2																																																																																				0.569	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	210						9	210	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A	rs587781651		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	ENST00000358273.4	+	53	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q375fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2561fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2582					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7744-7746)gagfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683983_29683984insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7745dupA	17.37:g.29683984_29683984dupA	ENSP00000351015:p.Gln2582fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.E2561fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Ins_p.E375fs	p.E2582fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8127_8128	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2582					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.7744_7745insA	CCDS42292.1																																																																																				0.371	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		97	147						97	147	---	---	---	---
C17orf75	64149	broad.mit.edu	37	17	30665254	30665254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:30665254delA	ENST00000577809.1	-	4	513	c.464delT	c.(463-465)ttafs	p.L155fs	C17orf75_ENST00000225805.4_Frame_Shift_Del_p.L155fs|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	155										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCCTCCTAAAAAACAGAC	0.388																																						ENST00000577809.1																			0				ovary(1)	1						c.(463-465)tafs		chromosome 17 open reading frame 75							158.0	153.0	155.0					17																	30665254		1840	4099	5939	SO:0001589	frameshift_variant	64149				spermatogenesis			g.chr17:30665254delA	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.464delT	17.37:g.30665254delA	ENSP00000464275:p.Leu155fs					C17orf75_ENST00000225805.4_Frame_Shift_Del_p.L155fs|RP11-227G15.3_ENST00000581915.1_RNA	p.L155fs	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	513	-		Breast(31;0.116)|Ovarian(249;0.182)	155					Q7Z2H4	Frame_Shift_Del	DEL	ENST00000577809.1	37	c.464delT	CCDS58537.1																																																																																				0.388	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		7	200						7	200	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050841	58050841	+	IGR	DEL	T	T	-	rs74362551|rs397743979|rs35409789		TCGA-FG-5963-02A-12D-A29Q-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57bdce37-2995-4101-aeb2-4f889fb95471	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:58050841delT	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							acagggtttcTTTTTTTTTTT	0.413																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050841delT																													17.37:g.58050841delT														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.413	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			10	5						10	5	---	---	---	---
