#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
CCL7	6354	broad.mit.edu	37	17	32597292	32597292	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:32597292A>T	ENST00000378569.2	+	0	53				CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000394630.3_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7						cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGGAAGCCCATGCCCTCACC	0.547																																						ENST00000378569.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7								chemokine (C-C motif) ligand 7							71.0	59.0	63.0					17																	32597292		2203	4300	6503			6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597292A>T	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889		17.37:g.32597292A>T						CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L|CCL7_ENST00000394630.3_De_novo_Start_InFrame		NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	0	53	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)						Q569J6	Translation_Start_Site	SNP	ENST00000378569.2	37		CCDS11278.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184197	0.01620	.	.	ENSG00000108688	ENST00000378569;ENST00000394630;ENST00000394627	.	.	.	3.89	0.269	0.15631	.	10.005000	0.00166	N	0.000004	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12477	-1.0546	6	0.11182	T	0.66	.	5.9178	0.19065	0.5474:0.0:0.4526:0.0	.	.	.	.	L	5	.	ENSP00000367832:M5L	M	+	1	0	CCL7	29621405	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.026000	0.01434	-0.061000	0.13110	0.528000	0.53228	ATG		0.547	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		59	88	0	0	0	2.47226e-05	0	59	88				
WDR54	84058	broad.mit.edu	37	2	74654657	74654657	+	IGR	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:74654657G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Silent_p.I333I|RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000305557.5_Silent_p.I370I	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACTGGTTACTGATGCTTAGGG	0.557																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1108-1110)atC>atT		rhotekin							195.0	205.0	202.0					2																	74654657		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654657G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654657G>A						RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000233330.6_Silent_p.I333I	p.I370I	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			11	1695	-			383			PH.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1110C>T	CCDS1940.1																																																																																				0.557	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		160	590	0	0	0	2.47226e-05	0	160	590				
TGOLN2	10618	broad.mit.edu	37	2	85554351	85554351	+	Splice_Site	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:85554351T>C	ENST00000282120.2	-	3	500		c.e3-2		TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S			O43493	TGON2_HUMAN	trans-golgi network protein 2							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCTCCGAACCTGACTTGCTAG	0.602																																						ENST00000282120.2																			0											c.e3-2		trans-golgi network protein 2							311.0	314.0	313.0					2																	85554351		1956	4148	6104	SO:0001630	splice_region_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554351T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000282120.2:c.212-2A>G	2.37:g.85554351T>C						TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S				O43493	TGON2_HUMAN			3	500	-								B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Splice_Site	SNP	ENST00000282120.2	37			.	.	.	.	.	.	.	.	.	.	T	0.755	-0.771466	0.02951	.	.	ENSG00000152291	ENST00000282120	.	.	.	2.95	-5.91	0.02269	.	.	.	.	.	.	.	.	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0355	0.30491	0.1707:0.1246:0.0:0.7047	.	.	.	.	.	-1	.	.	.	-	.	.	TGOLN2	85407862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.395000	0.01053	-2.566000	0.00470	-1.559000	0.00887	.		0.602	TGOLN2-201	KNOWN	basic	protein_coding	protein_coding		NM_006464	Intron	8	1963	0	0	0	1.49906e-05	0	8	1963				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			9	664	0	0	0	2.17888e-05	0	9	664				
SAMD9	54809	broad.mit.edu	37	7	92731348	92731348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:92731348G>T	ENST00000379958.2	-	3	4332	c.4063C>A	c.(4063-4065)Caa>Aaa	p.Q1355K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1355						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCATCCTCTTGACTTTTGATA	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4063-4065)Caa>Aaa		sterile alpha motif domain containing 9							96.0	102.0	100.0					7																	92731348		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92731348G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4063C>A	7.37:g.92731348G>T	ENSP00000369292:p.Gln1355Lys						p.Q1355K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4332	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1355					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4063C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211119	0.09757	.	.	ENSG00000205413	ENST00000379958	T	0.22743	1.94	4.41	4.41	0.53225	.	0.467007	0.18738	N	0.132534	T	0.14141	0.0342	N	0.25647	0.755	0.09310	N	0.999993	B	0.33694	0.421	B	0.29862	0.108	T	0.13495	-1.0507	10	0.10636	T	0.68	-3.4161	16.0645	0.80861	0.0:0.0:1.0:0.0	.	1355	Q5K651	SAMD9_HUMAN	K	1355	ENSP00000369292:Q1355K	ENSP00000369292:Q1355K	Q	-	1	0	SAMD9	92569284	0.011000	0.17503	0.073000	0.20177	0.115000	0.19883	1.580000	0.36547	2.424000	0.82194	0.603000	0.83216	CAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		18	967	1	0	1.64113e-05	1.64113e-05	0.00695942	18	967				
BATF	10538	broad.mit.edu	37	14	75989073	75989073	+	Silent	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:75989073T>G	ENST00000286639.6	+	1	306	c.48T>G	c.(46-48)ccT>ccG	p.P16P	BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	16					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCTCTCCTCCCCCTGGCA	0.587																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(46-48)ccT>ccG		basic leucine zipper transcription factor, ATF-like							82.0	75.0	77.0					14																	75989073		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:75989073T>G	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.48T>G	14.37:g.75989073T>G						BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	1	306	+			16						Silent	SNP	ENST00000286639.6	37	c.48T>G	CCDS9843.1																																																																																				0.587	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		78	165	0	0	0	2.47226e-05	0	78	165				
ADAMTSL3	57188	broad.mit.edu	37	15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1336I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTTGAAGAGAGGAGGATCT	0.428																																						ENST00000286744.5																			1	Substitution - Missense(1)	p.R1336I(1)	endometrium(1)	NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4006-4008)aGa>aCa		ADAMTS-like 3							217.0	190.0	199.0					15																	84683327		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683327G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4007G>C	15.37:g.84683327G>C	ENSP00000286744:p.Arg1336Thr					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4231	+			1336			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4007G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420685	0.25639	.	.	ENSG00000156218	ENST00000286744	T	0.27402	1.67	4.7	1.68	0.24146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739929	0.11659	N	0.541996	T	0.15696	0.0378	N	0.17082	0.46	0.26572	N	0.973534	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.007	T	0.31280	-0.9949	10	0.22109	T	0.4	.	4.2489	0.10684	0.4199:0.1664:0.4137:0.0	.	1336;1336	P82987-2;P82987	.;ATL3_HUMAN	T	1336	ENSP00000286744:R1336T	ENSP00000286744:R1336T	R	+	2	0	ADAMTSL3	82474331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.900000	0.28431	0.048000	0.15891	-0.266000	0.10368	AGA		0.428	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		35	591	0	0	0	2.86225e-05	0	35	591				
DOCK3	1795	broad.mit.edu	37	3	51312611	51312611	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:51312611T>G	ENST00000266037.9	+	25	2673	c.2650T>G	c.(2650-2652)Ttc>Gtc	p.F884V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	884					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGCAGCATCTTCTCCATCGT	0.537																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2650-2652)Ttc>Gtc		dedicator of cytokinesis 3							151.0	152.0	151.0					3																	51312611		1983	4158	6141	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51312611T>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2650T>G	3.37:g.51312611T>G	ENSP00000266037:p.Phe884Val						p.F884V	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	25	2673	+			884					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2650T>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797966	0.90538	.	.	ENSG00000088538	ENST00000266037	T	0.65364	-0.15	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.66939	2.045	0.80722	D	1	P	0.51933	0.949	P	0.48952	0.596	T	0.69423	-0.5149	10	0.39692	T	0.17	.	15.8727	0.79132	0.0:0.0:0.0:1.0	.	884	Q8IZD9	DOCK3_HUMAN	V	884	ENSP00000266037:F884V	ENSP00000266037:F884V	F	+	1	0	DOCK3	51287651	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.036000	0.88901	2.139000	0.66308	0.528000	0.53228	TTC		0.537	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	469	0	0	0	3.07112e-06	0	10	469				
CACNA1E	777	broad.mit.edu	37	1	181707541	181707541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:181707541C>A	ENST00000367573.2	+	24	3591	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1197					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						CGGGCGTGTTCACCTTTGAGA	0.468																																						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.(3532-3534)ttC>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							262.0	271.0	268.0					1																	181707541		1920	4133	6053	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707541C>A	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.3591C>A	1.37:g.181707541C>A	ENSP00000356545:p.Phe1197Leu					CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L	p.F1178L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			23	3699	+			1197					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3534C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615265	0.66672	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.49	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99535	4.615	0.80722	D	1	P;P;D	0.61697	0.751;0.576;0.99	P;P;D	0.72982	0.613;0.542;0.979	D	0.97750	1.0214	10	0.87932	D	0	.	10.6869	0.45848	0.0:0.842:0.0:0.158	.	1178;1197;1197	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1197;1178;1148;1129;804;1178;1197	ENSP00000356542:F1197L;ENSP00000434814:F1178L;ENSP00000350183:F1148L;ENSP00000351101:F1129L;ENSP00000356539:F804L;ENSP00000353222:F1178L;ENSP00000356545:F1197L	ENSP00000350183:F1148L	F	+	3	2	CACNA1E	179974164	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.823000	0.62694	1.420000	0.47138	0.655000	0.94253	TTC		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	922	1	0	3.52763e-06	3.52763e-06	0.00163421	14	922				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			23	180	0	0	0	1.32003e-05	0	23	180				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	168	0	0	0	5.9392e-07	0	5	168				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	79	0	0	0	1.12685e-05	0	5	79				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			4	146	0	0	0	1.12685e-05	0	4	146				
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																						ENST00000372781.3																			2	Substitution - coding silent(2)	p.T293T(2)	lung(1)|kidney(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(877-879)acA>acG		semenogelin I							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_ENST00000244069.6_Intron	p.T293T	NM_003007.3	NP_002998.1					2	936	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		7	319	0	0	0	2.0095e-06	0	7	319				
TBC1D1	23216	broad.mit.edu	37	4	38134830	38134830	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:38134830C>T	ENST00000261439.4	+	19	3613	c.3258C>T	c.(3256-3258)acC>acT	p.T1086T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1077T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1086					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TAGAGAAAACCAACAGCAGCT	0.393																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(3256-3258)acC>acT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							111.0	103.0	106.0					4																	38134830		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38134830C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3258C>T	4.37:g.38134830C>T						TBC1D1_ENST00000508802.1_Silent_p.T1077T|TBC1D1_ENST00000407365.1_3'UTR	p.T1086T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			19	3613	+			1086					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3258C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197786	0.22037	.	.	ENSG00000065882	ENST00000510573	.	.	.	4.97	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4575	6.939	0.24483	0.2837:0.6293:0.0:0.087	.	.	.	.	X	774	.	.	Q	+	1	0	TBC1D1	37811225	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.306000	0.43673	1.445000	0.47624	0.655000	0.94253	CAA		0.393	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		15	220	0	0	0	2.23348e-06	0	15	220				
AMBN	258	broad.mit.edu	37	4	71468526	71468526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:71468526G>A	ENST00000322937.6	+	8	685	c.582G>A	c.(580-582)atG>atA	p.M194I	AMBN_ENST00000449493.2_Missense_Mutation_p.M179I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	194					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCCAGGAATGGATTTTCCTG	0.249																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(580-582)atG>atA		ameloblastin (enamel matrix protein)							26.0	27.0	26.0					4																	71468526		1311	2292	3603	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468526G>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.582G>A	4.37:g.71468526G>A	ENSP00000313809:p.Met194Ile					AMBN_ENST00000449493.2_Missense_Mutation_p.M179I	p.M194I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	685	+			194					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.582G>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	0.256	-1.002933	0.02128	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29142	1.58;1.59	2.61	0.824	0.18818	.	1.675450	0.03761	U	0.258090	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.24657	-1.0154	10	0.45353	T	0.12	.	4.9282	0.13903	0.3094:0.0:0.6906:0.0	.	194	Q9NP70	AMBN_HUMAN	I	194;193;179	ENSP00000313809:M194I;ENSP00000391234:M179I	ENSP00000313809:M194I	M	+	3	0	AMBN	71503115	0.972000	0.33761	0.133000	0.22050	0.018000	0.09664	0.886000	0.28241	0.184000	0.20083	-0.704000	0.03662	ATG		0.249	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	209	0	0	0	2.17888e-05	0	6	209				
CACNG2	10369	broad.mit.edu	37	22	37098459	37098459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:37098459C>T	ENST00000300105.6	-	1	1144	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	55					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ATAACTTCCTCGTTCTTTTTG	0.517																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(163-165)Gag>Aag		calcium channel, voltage-dependent, gamma subunit 2							246.0	204.0	218.0					22																	37098459		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098459C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.163G>A	22.37:g.37098459C>T	ENSP00000300105:p.Glu55Lys						p.E55K	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			1	1144	-			55					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.163G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145171	0.57044	.	.	ENSG00000166862	ENST00000300105	T	0.37584	1.19	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.12746	0.255	0.58432	D	0.999997	D	0.52996	0.957	P	0.44394	0.448	T	0.04281	-1.0963	10	0.06891	T	0.86	-10.3973	17.3494	0.87318	0.0:1.0:0.0:0.0	.	55	Q9Y698	CCG2_HUMAN	K	55	ENSP00000300105:E55K	ENSP00000300105:E55K	E	-	1	0	CACNG2	35428405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.134000	0.65973	0.546000	0.68486	GAG		0.517	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			113	321	0	0	0	2.47226e-05	0	113	321				
ZGPAT	84619	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(787-789)gAc>gGc		zinc finger, CCCH-type with G patch domain							135.0	130.0	132.0					20																	62365008		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly					ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000490623.1_3'UTR	p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	915	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		263					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.788A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		7	891	0	0	0	5.9392e-07	0	7	891				
ATRX	546	broad.mit.edu	37	X	76937446	76937446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:76937446G>T	ENST00000373344.5	-	9	3516	c.3302C>A	c.(3301-3303)tCa>tAa	p.S1101*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1101					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						TCTCTTCCTTGAACTCTTTCC	0.368			"""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.(3301-3303)tCa>tAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						120.0	129.0	126.0					X																	76937446		2203	4289	6492	SO:0001587	stop_gained	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:76937446G>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.3302C>A	X.37:g.76937446G>T	ENSP00000362441:p.Ser1101*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*	p.S1101*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3516	-			1101					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3302C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	44	10.823445	0.99473	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.65	5.65	0.86999	.	0.631889	0.14695	N	0.303893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4388	16.8866	0.86077	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;1063;1028	.	ENSP00000362441:S1101X	S	-	2	0	ATRX	76824102	0.200000	0.23398	0.858000	0.33744	0.899000	0.52679	2.515000	0.45512	2.364000	0.80123	0.513000	0.50165	TCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	926	1	0	1.49906e-05	1.49906e-05	0.00640621	12	926				
FAM135B	51059	broad.mit.edu	37	8	139144922	139144922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:139144922C>A	ENST00000395297.1	-	20	4305	c.4135G>T	c.(4135-4137)Ggc>Tgc	p.G1379C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGGCTCGGCCGATCAGGGTG	0.542										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4135-4137)Ggc>Tgc		family with sequence similarity 135, member B							193.0	205.0	201.0					8																	139144922		1976	4153	6129	SO:0001583	missense	51059							g.chr8:139144922C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4135G>T	8.37:g.139144922C>A	ENSP00000378710:p.Gly1379Cys	HNSCC(54;0.14)					p.G1379C	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4305	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1379					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4135G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	32	5.192688	0.94960	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80973	-0.1143	10	0.87932	D	0	-24.2159	18.9188	0.92516	0.0:1.0:0.0:0.0	.	1379	Q49AJ0	F135B_HUMAN	C	1379	ENSP00000378710:G1379C	ENSP00000378710:G1379C	G	-	1	0	FAM135B	139214104	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.786000	0.85741	2.732000	0.93576	0.591000	0.81541	GGC		0.542	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	1318	1	0	2.17888e-05	2.17888e-05	0.00896397	12	1318				
GPR125	166647	broad.mit.edu	37	4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.R577L(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1729-1731)cGg>cTg		G protein-coupled receptor 125							197.0	202.0	200.0					4																	22422588		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422588C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1730G>T	4.37:g.22422588C>A	ENSP00000334952:p.Arg577Leu					GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L	p.R577L	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			12	1999	-		Breast(46;0.198)	577					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1730G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341855	0.41498	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56611	0.61;0.45	5.1	5.1	0.69264	.	0.165023	0.41097	D	0.000942	T	0.58652	0.2137	L	0.29908	0.895	0.44762	D	0.997763	B;B;D;D	0.63880	0.001;0.018;0.992;0.993	B;B;D;D	0.74023	0.006;0.008;0.969;0.982	T	0.49000	-0.8984	10	0.06891	T	0.86	-16.2877	18.8818	0.92358	0.0:1.0:0.0:0.0	.	452;577;351;577	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	577;351;577	ENSP00000334952:R577L;ENSP00000421006:R577L	ENSP00000334952:R577L	R	-	2	0	GPR125	22031686	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.527000	0.67123	2.515000	0.84797	0.655000	0.94253	CGG		0.468	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	902	1	0	5.50884e-06	5.50884e-06	0.00248927	9	902				
OR4C15	81309	broad.mit.edu	37	11	55322649	55322649	+	Silent	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322649T>A	ENST00000314644.2	+	1	867	c.867T>A	c.(865-867)gcT>gcA	p.A289A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGGAAAGCTCTCTCCACCT	0.438										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(865-867)gcT>gcA		olfactory receptor, family 4, subfamily C, member 15							232.0	216.0	222.0					11																	55322649		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322649T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.867T>A	11.37:g.55322649T>A		HNSCC(20;0.049)					p.A289A	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	867	+			235					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.867T>A	CCDS31501.1																																																																																				0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		175	276	0	0	0	2.47226e-05	0	175	276				
FAR2	55711	broad.mit.edu	37	12	29446305	29446305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:29446305C>A	ENST00000536681.3	+	3	508	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.Q88K|FAR2_ENST00000547116.1_5'UTR	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	88					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AGATCTCAATCAGAATGACTT	0.383																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(262-264)Cag>Aag		fatty acyl CoA reductase 2							145.0	140.0	142.0					12																	29446305		2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29446305C>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.262C>A	12.37:g.29446305C>A	ENSP00000443291:p.Gln88Lys					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.Q88K|FAR2_ENST00000547116.1_5'UTR	p.Q88K	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			3	530	+			88					F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.262C>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670175	0.47677	.	.	ENSG00000064763	ENST00000536681;ENST00000182377	T;T	0.41065	1.01;1.01	5.43	4.45	0.53987	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.170663	0.53938	D	0.000053	T	0.28566	0.0707	N	0.21373	0.66	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.06303	-1.0834	10	0.15952	T	0.53	-25.1913	14.4758	0.67546	0.1571:0.8429:0.0:0.0	.	88	Q96K12	FACR2_HUMAN	K	88	ENSP00000443291:Q88K;ENSP00000182377:Q88K	ENSP00000182377:Q88K	Q	+	1	0	FAR2	29337572	0.999000	0.42202	0.362000	0.25862	0.981000	0.71138	4.144000	0.58057	2.547000	0.85894	0.655000	0.94253	CAG		0.383	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	569	1	0	1.49906e-05	1.49906e-05	0.00640621	10	569				
JAGN1	84522	broad.mit.edu	37	3	9934901	9934901	+	Missense_Mutation	SNP	G	G	A	rs542419840		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:9934901G>A	ENST00000307768.4	+	2	561	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CAGCTCTACCGCCATGGCAAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		22334	0.0		0.0	False		,,,				2504	0.001					ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(391-393)cGc>cAc		jagunal homolog 1 (Drosophila)							239.0	150.0	180.0					3																	9934901		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934901G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.392G>A	3.37:g.9934901G>A	ENSP00000306106:p.Arg131His						p.R131H	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN			2	561	+	Medulloblastoma(99;0.227)		131						Missense_Mutation	SNP	ENST00000307768.4	37	c.392G>A	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014448|4.014448	0.75161|0.75161	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	3.76|3.76	0.43208|0.43208	.|.	.|0.054409	.|0.64402	.|D	.|0.000001	T|T	0.74099|0.74099	0.3672|0.3672	M|M	0.84082|0.84082	2.675|2.675	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.63880	.|0.993	.|P	.|0.55713	.|0.782	T|T	0.78671|0.78671	-0.2113|-0.2113	6|9	0.13853|0.66056	T|D	0.58|0.02	-22.0269|-22.0269	11.9619|11.9619	0.53013|0.53013	0.071:0.0:0.7989:0.13|0.071:0.0:0.7989:0.13	.|.	.|131	.|Q8N5M9	.|JAGN1_HUMAN	T|H	130|131	.|.	ENSP00000442889:A130T|ENSP00000306106:R131H	A|R	+|+	1|2	0|0	JAGN1|JAGN1	9909901|9909901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.496000|7.496000	0.81526|0.81526	1.434000|1.434000	0.47414|0.47414	-0.339000|-0.339000	0.08088|0.08088	GCC|CGC		0.527	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		16	385	0	0	0	3.52763e-06	0	16	385				
TEP1	7011	broad.mit.edu	37	14	20841221	20841221	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:20841221T>C	ENST00000262715.5	-	48	6940	c.6900A>G	c.(6898-6900)caA>caG	p.Q2300Q	TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2300					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTCCCCAGCTTGATTTCCAG	0.522																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6898-6900)caA>caG		telomerase-associated protein 1							77.0	77.0	77.0					14																	20841221		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841221T>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6900A>G	14.37:g.20841221T>C						TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q	p.Q2300Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6940	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2300					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6900A>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	8.134	0.783739	0.16189	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	0.76	0.18442	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21719	N	0.999572	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-0.0235	7.2173	0.25967	0.0:0.4669:0.0:0.5331	.	.	.	.	G	7	.	.	S	-	1	0	TEP1	19911061	0.053000	0.20554	0.110000	0.21437	0.973000	0.67179	0.124000	0.15728	0.135000	0.18707	0.533000	0.62120	AGC		0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		90	175	0	0	0	2.47226e-05	0	90	175				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2227-2229)Tct>Gct		filaggrin family member 2							292.0	285.0	288.0					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	1758	0	0	0	1.23904e-05	0	11	1758				
BLOC1S3	388552	broad.mit.edu	37	19	45682658	45682658	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:45682658A>C	ENST00000433642.2	+	2	200	c.104A>C	c.(103-105)gAg>gCg	p.E35A	TRAPPC6A_ENST00000588062.1_5'Flank|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A|TRAPPC6A_ENST00000006275.4_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000585934.1_5'Flank|TRAPPC6A_ENST00000592647.1_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	35					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGTCGGAGGAGGAGGAG	0.761									Hermansky-Pudlak syndrome																													ENST00000433642.2																			0				ovary(1)|skin(1)	2						c.(103-105)gAg>gCg		biogenesis of lysosomal organelles complex-1, subunit 3							9.0	10.0	10.0					19																	45682658		2158	4240	6398	SO:0001583	missense	388552	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	g.chr19:45682658A>C	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20914	protein-coding gene	gene with protein product	"""BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"""	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.104A>C	19.37:g.45682658A>C	ENSP00000393840:p.Glu35Ala					BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	p.E35A	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	2	200	+		Ovarian(192;0.0728)|all_neural(266;0.112)	35					B2RXB8	Missense_Mutation	SNP	ENST00000433642.2	37	c.104A>C	CCDS12656.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381951	0.42207	.	.	ENSG00000189114	ENST00000433642	.	.	.	2.93	1.77	0.24775	.	0.624228	0.12947	N	0.426136	T	0.16642	0.0400	N	0.08118	0	0.26487	N	0.975019	B	0.28128	0.201	B	0.20767	0.031	T	0.13980	-1.0489	9	0.62326	D	0.03	.	6.2471	0.20825	0.7472:0.2528:0.0:0.0	.	35	Q6QNY0	BL1S3_HUMAN	A	35	.	ENSP00000393840:E35A	E	+	2	0	BLOC1S3	50374498	0.697000	0.27767	0.994000	0.49952	0.982000	0.71751	0.657000	0.24963	1.121000	0.41925	0.374000	0.22700	GAG		0.761	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		18	23	0	0	0	5.3912e-06	0	18	23				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			10	246	0	0	0	5.50884e-06	0	10	246				
NRIP3	56675	broad.mit.edu	37	11	9007342	9007342	+	Missense_Mutation	SNP	G	G	A	rs61756060	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:9007342G>A	ENST00000309166.3	-	4	591	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTGAGATGCCGGGGTAGAGAA	0.512													G|||	6	0.00119808	0.0	0.0029	5008	,	,		18127	0.0		0.002	False		,,,				2504	0.002					ENST00000309166.3																			0				large_intestine(1)|lung(4)|skin(1)|stomach(1)	7						c.(478-480)Cgg>Tgg		nuclear receptor interacting protein 3		G	TRP/ARG	4,4398	8.1+/-20.4	0,4,2197	190.0	196.0	194.0		478	5.1	1.0	11	dbSNP_129	194	43,8549	27.9+/-77.7	0,43,4253	yes	missense	NRIP3	NM_020645.2	101	0,47,6450	AA,AG,GG		0.5005,0.0909,0.3617	probably-damaging	160/242	9007342	47,12947	2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9007342G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.478C>T	11.37:g.9007342G>A	ENSP00000310205:p.Arg160Trp					NRIP3_ENST00000531090.1_Intron	p.R160W	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	4	591	-			160					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.478C>T	CCDS31422.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	19.99	3.928613	0.73327	9.09E-4	0.005005	ENSG00000175352	ENST00000309166;ENST00000525100	T	0.42131	0.98	6.02	5.11	0.69529	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.335324	0.29791	N	0.011187	T	0.45677	0.1354	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.48317	-0.9046	10	0.38643	T	0.18	.	12.626	0.56630	0.0774:0.0:0.9226:0.0	rs61756060	160	Q9NQ35	NRIP3_HUMAN	W	160;153	ENSP00000310205:R160W	ENSP00000310205:R160W	R	-	1	2	NRIP3	8963918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.368000	0.44222	1.565000	0.49641	0.655000	0.94253	CGG		0.512	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		26	484	0	0	0	9.90768e-06	0	26	484				
SDCCAG8	10806	broad.mit.edu	37	1	243507631	243507631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:243507631C>A	ENST00000366541.3	+	12	1589	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATTAAAGATCAGGTAAGAGA	0.353																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1471-1473)Cag>Aag		serologically defined colon cancer antigen 8							90.0	86.0	87.0					1																	243507631		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507631C>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1471C>A	1.37:g.243507631C>A	ENSP00000355499:p.Gln491Lys					SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	p.Q491K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1589	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	491			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1471C>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072404	0.55646	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.57273	0.7;0.66;0.66;0.41	6.07	5.16	0.70880	.	0.129373	0.52532	D	0.000063	T	0.39886	0.1095	L	0.29908	0.895	0.47245	D	0.999362	B;B	0.25441	0.075;0.126	B;B	0.28638	0.092;0.092	T	0.19614	-1.0300	10	0.15499	T	0.54	-7.4048	12.343	0.55105	0.1339:0.7375:0.1286:0.0	.	448;491	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	448;491;346;271	ENSP00000348137:Q448K;ENSP00000355499:Q491K;ENSP00000341260:Q346K;ENSP00000410200:Q271K	ENSP00000341260:Q346K	Q	+	1	0	SDCCAG8	241574254	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	1.566000	0.49654	0.585000	0.79938	CAG		0.353	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		32	199	1	0	9.17885e-22	1.17478e-05	4.72908e-19	32	199				
KRT28	162605	broad.mit.edu	37	17	38949428	38949428	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:38949428T>A	ENST00000306658.7	-	7	1296	c.1231A>T	c.(1231-1233)Agc>Tgc	p.S411C		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCCAGGGCTTCCTGATCCA	0.313																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1231-1233)Agc>Tgc		keratin 28							26.0	26.0	26.0					17																	38949428		2200	4300	6500	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38949428T>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1231A>T	17.37:g.38949428T>A	ENSP00000305263:p.Ser411Cys						p.S411C	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			7	1296	-		Breast(137;0.000301)	411			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1231A>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471242	0.43942	.	.	ENSG00000173908	ENST00000306658	D	0.83419	-1.72	5.35	0.343	0.16001	.	0.768911	0.12060	N	0.503255	T	0.76586	0.4008	L	0.38175	1.15	0.22081	N	0.999376	P	0.35192	0.489	B	0.41299	0.353	T	0.66968	-0.5789	10	0.62326	D	0.03	.	7.4993	0.27509	0.0:0.4287:0.0:0.5713	.	411	Q7Z3Y7	K1C28_HUMAN	C	411	ENSP00000305263:S411C	ENSP00000305263:S411C	S	-	1	0	KRT28	36202954	0.023000	0.18921	0.940000	0.37924	0.992000	0.81027	-0.298000	0.08265	0.108000	0.17862	0.533000	0.62120	AGC		0.313	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		55	294	0	0	0	2.47226e-05	0	55	294				
OR4C15	81309	broad.mit.edu	37	11	55322650	55322650	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322650C>A	ENST00000314644.2	+	1	868	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGGAAAGCTCTCTCCACCTG	0.433										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(868-870)Ctc>Atc		olfactory receptor, family 4, subfamily C, member 15							234.0	217.0	223.0					11																	55322650		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322650C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.868C>A	11.37:g.55322650C>A	ENSP00000324958:p.Leu290Ile	HNSCC(20;0.049)					p.L290I	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	868	+			236					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.868C>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141818	0.37825	.	.	ENSG00000181939	ENST00000314644	T	0.00137	8.68	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.81682	2.555	0.25891	N	0.983471	P	0.44195	0.828	P	0.48524	0.58	T	0.42965	-0.9420	9	0.87932	D	0	.	9.2831	0.37740	0.0:0.9041:0.0:0.0959	.	236	Q8NGM1	OR4CF_HUMAN	I	290	ENSP00000324958:L290I	ENSP00000324958:L290I	L	+	1	0	OR4C15	55079226	0.000000	0.05858	0.971000	0.41717	0.282000	0.26991	-0.491000	0.06474	2.608000	0.88229	0.385000	0.25706	CTC		0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		176	276	1	0	9.15566e-77	2.47226e-05	4.76164e-74	176	276				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		11	2098	0	0	0	6.4e-05	0	11	2098				
ACTL6A	86	broad.mit.edu	37	3	179291168	179291168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:179291168G>A	ENST00000429709.2	+	4	502	c.289G>A	c.(289-291)Gat>Aat	p.D97N	ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N|ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	97					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGAAGACTGGGATAGTTTCCA	0.353																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(289-291)Gat>Aat		actin-like 6A							87.0	86.0	86.0					3																	179291168		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291168G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.289G>A	3.37:g.179291168G>A	ENSP00000397552:p.Asp97Asn					ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	p.D97N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	502	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		97					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.289G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398826	0.96030	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95853	-3.83;-3.83;-3.83	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.64260	1.97	0.80722	D	1	D	0.52996	0.957	P	0.53954	0.738	D	0.96821	0.9604	10	0.87932	D	0	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	97	O96019	ACL6A_HUMAN	N	97;55;55	ENSP00000397552:D97N;ENSP00000394014:D55N;ENSP00000376430:D55N	ENSP00000376430:D55N	D	+	1	0	ACTL6A	180773862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.686000	0.98664	2.625000	0.88918	0.555000	0.69702	GAT		0.353	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		13	606	0	0	0	9.31168e-06	0	13	606				
EML3	256364	broad.mit.edu	37	11	62370095	62370095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:62370095G>A	ENST00000394773.2	-	22	2850	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	EML3_ENST00000278845.4_Missense_Mutation_p.T849M|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|EML3_ENST00000494176.2_Silent_p.H783H|EML3_ENST00000529309.1_Silent_p.H811H|MTA2_ENST00000527204.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	848						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCGTCGTGCGTGAATCGGAC	0.746																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2542-2544)aCg>aTg		echinoderm microtubule associated protein like 3							14.0	10.0	11.0					11																	62370095		2136	4209	6345	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62370095G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2543C>T	11.37:g.62370095G>A	ENSP00000378254:p.Thr848Met					EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|EML3_ENST00000278845.4_Missense_Mutation_p.T849M|EML3_ENST00000494176.2_Silent_p.H783H	p.T848M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			22	2850	-			848					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2543C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126410|4.126410	0.77549|0.77549	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000439994;ENST00000394773;ENST00000278845;ENST00000531557	.|T;T;T;T	.|0.41400	.|2.28;1.52;1.0;1.0	4.96|4.96	4.96|4.96	0.65561|0.65561	.|WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.|0.511488	.|0.19627	.|N	.|0.109775	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.995;0.882;0.999	.|P;B;D	.|0.66351	.|0.832;0.325;0.943	T|T	0.50775|0.50775	-0.8788|-0.8788	5|10	.|0.42905	.|T	.|0.14	-32.5046|-32.5046	16.0654|16.0654	0.80867|0.80867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|848;631;849	.|Q32P44;G3V195;B7WPE2	.|EMAL3_HUMAN;.;.	C|M	806|89;848;849;631	.|ENSP00000409611:T89M;ENSP00000378254:T848M;ENSP00000278845:T849M;ENSP00000433417:T631M	.|ENSP00000278845:T849M	R|T	-|-	1|2	0|0	EML3|EML3	62126671|62126671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.027000|3.027000	0.49697|0.49697	2.472000|2.472000	0.83506|0.83506	0.462000|0.462000	0.41574|0.41574	CGC|ACG		0.746	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		4	36	0	0	0	2.56e-06	0	4	36				
CHST10	9486	broad.mit.edu	37	2	101010109	101010109	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:101010109T>C	ENST00000264249.3	-	7	1054	c.669A>G	c.(667-669)agA>agG	p.R223R	CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	223					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCCTGTATTTTCTGATGATGC	0.483																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(667-669)agA>agG		carbohydrate sulfotransferase 10							145.0	146.0	146.0					2																	101010109		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010109T>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.669A>G	2.37:g.101010109T>C						CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	p.R223R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1054	-			223					Q53T18	Silent	SNP	ENST00000264249.3	37	c.669A>G	CCDS2047.1																																																																																				0.483	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		68	463	0	0	0	2.47226e-05	0	68	463				
FAM134B	54463	broad.mit.edu	37	5	16479052	16479052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:16479052C>A	ENST00000306320.9	-	6	801	c.715G>T	c.(715-717)Gga>Tga	p.G239*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	239					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATTTTTTGTCCAATATCATTA	0.343																																						ENST00000306320.9																			0				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(715-717)Gga>Tga		family with sequence similarity 134, member B							63.0	58.0	60.0					5																	16479052		1817	4064	5881	SO:0001587	stop_gained	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16479052C>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.715G>T	5.37:g.16479052C>A	ENSP00000304642:p.Gly239*					FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	p.G239*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			6	801	-			239					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Nonsense_Mutation	SNP	ENST00000306320.9	37	c.715G>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	40	8.391096	0.98791	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	.	.	.	5.61	5.61	0.85477	.	0.234210	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.3758	19.6408	0.95757	0.0:1.0:0.0:0.0	.	.	.	.	X	98;239	.	ENSP00000304642:G239X	G	-	1	0	FAM134B	16532052	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.164000	0.64954	2.658000	0.90341	0.585000	0.79938	GGA		0.343	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		10	669	1	0	2.17888e-05	2.17888e-05	0.00896397	10	669				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116689	121116689	+	lincRNA	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:121116689C>T	ENST00000437515.1	-	0	329					NR_104189.1																						CTTTTCAGCACCAAGCCAAGT	0.403																																						ENST00000437515.1																			0																																																			0							g.chr1:121116689C>T																													1.37:g.121116689C>T														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.403	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			5	177	0	0	0	1.23904e-05	0	5	177				
UBBP4	23666	broad.mit.edu	37	17	21730846	21730846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:21730846C>T	ENST00000578713.1	+	1	152	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50W|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGGCAAGCAGCGGGAAGATGG	0.517																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)Cgg>Tgg																																						SO:0001583	missense	0							g.chr17:21730846C>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.148C>T	17.37:g.21730846C>T	ENSP00000464265:p.Arg50Trp					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50W	p.R50W							2	545	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.148C>T																																																																																					0.517	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			60	117	0	0	0	2.47226e-05	0	60	117				
ERICH6	131831	broad.mit.edu	37	3	150391782	150391782	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:150391782T>G	ENST00000295910.6	-	11	1356	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTCAGAAACTTGCTCCCATG	0.333																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1303-1305)aAg>aCg		family with sequence similarity 194, member A							155.0	150.0	151.0					3																	150391782		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150391782T>G																												ENST00000295910.6:c.1304A>C	3.37:g.150391782T>G	ENSP00000295910:p.Lys435Thr					FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	p.K435T	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			11	1356	-			435						Missense_Mutation	SNP	ENST00000295910.6	37	c.1304A>C	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306745	0.60305	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12984	2.63;2.63	4.94	4.94	0.65067	.	0.220254	0.31461	N	0.007604	T	0.25457	0.0619	L	0.45228	1.405	0.30174	N	0.801058	D	0.76494	0.999	D	0.79784	0.993	T	0.05131	-1.0904	10	0.46703	T	0.11	-12.9558	8.3833	0.32486	0.0:0.0893:0.0:0.9107	.	435	Q7L0X2	F194A_HUMAN	T	435;289;393	ENSP00000295910:K435T;ENSP00000419366:K289T	ENSP00000295910:K435T	K	-	2	0	FAM194A	151874472	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.661000	0.54503	2.053000	0.61076	0.533000	0.62120	AAG		0.333	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			52	369	0	0	0	2.47226e-05	0	52	369				
CXorf21	80231	broad.mit.edu	37	X	30577624	30577624	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:30577624A>G	ENST00000378962.3	-	3	1171	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TAATTTCAGTAATTTCAGTTG	0.378																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(847-849)atT>atC		chromosome X open reading frame 21							78.0	68.0	71.0					X																	30577624		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577624A>G	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.849T>C	X.37:g.30577624A>G							p.I283I	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1171	-			283						Silent	SNP	ENST00000378962.3	37	c.849T>C	CCDS14224.1																																																																																				0.378	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		4	124	0	0	0	2.56e-06	0	4	124				
AMBN	258	broad.mit.edu	37	4	71468524	71468524	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:71468524A>G	ENST00000322937.6	+	8	683	c.580A>G	c.(580-582)Atg>Gtg	p.M194V	AMBN_ENST00000449493.2_Missense_Mutation_p.M179V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	194					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCTCCCAGGAATGGATTTTCC	0.249																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(580-582)Atg>Gtg		ameloblastin (enamel matrix protein)							25.0	26.0	26.0					4																	71468524		1312	2293	3605	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468524A>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.580A>G	4.37:g.71468524A>G	ENSP00000313809:p.Met194Val					AMBN_ENST00000449493.2_Missense_Mutation_p.M179V	p.M194V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	683	+			194					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.580A>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.561400	0.00903	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.28895	1.59;1.61	2.61	-0.14	0.13456	.	1.675450	0.03761	U	0.258090	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.23018	0.043	T	0.19811	-1.0294	10	0.36615	T	0.2	.	3.0058	0.06028	0.5952:0.2547:0.1501:0.0	.	194	Q9NP70	AMBN_HUMAN	V	194;193;179	ENSP00000313809:M194V;ENSP00000391234:M179V	ENSP00000313809:M194V	M	+	1	0	AMBN	71503113	0.324000	0.24652	0.086000	0.20670	0.016000	0.09150	-0.081000	0.11321	-0.005000	0.14395	-0.902000	0.02854	ATG		0.249	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	212	0	0	0	2.17888e-05	0	6	212				
AMBN	258	broad.mit.edu	37	4	71468533	71468533	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:71468533C>G	ENST00000322937.6	+	8	692	c.589C>G	c.(589-591)Cct>Gct	p.P197A	AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AATGGATTTTCCTGATCCACA	0.259																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(589-591)Cct>Gct		ameloblastin (enamel matrix protein)																																				SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468533C>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.589C>G	4.37:g.71468533C>G	ENSP00000313809:p.Pro197Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	p.P197A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	692	+			197					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.589C>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167250	0.01660	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.31510	1.56;1.49	2.61	-3.06	0.05379	.	1.468300	0.05127	N	0.491847	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.40728	T	0.16	.	3.1109	0.06357	0.1148:0.4467:0.2775:0.161	.	197	Q9NP70	AMBN_HUMAN	A	197;196;182	ENSP00000313809:P197A;ENSP00000391234:P182A	ENSP00000313809:P197A	P	+	1	0	AMBN	71503122	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	0.079000	0.14782	-0.882000	0.03987	-2.796000	0.00114	CCT		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	214	0	0	0	5.50884e-06	0	6	214				
AKAP9	10142	broad.mit.edu	37	7	91736667	91736667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:91736667C>A	ENST00000359028.2	+	48	11714	c.11489C>A	c.(11488-11490)cCa>cAa	p.P3830Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3830					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGGAGAACCAAGACATACT	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11488-11490)cCa>cAa		A kinase (PRKA) anchor protein 9							151.0	149.0	149.0					7																	91736667		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736667C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11489C>A	7.37:g.91736667C>A	ENSP00000351922:p.Pro3830Gln					AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q	p.P3830Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11714	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3830					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11489C>A		.	.	.	.	.	.	.	.	.	.	C	8.416	0.845249	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03301	4.08;4.08;4.06;3.98	5.41	2.32	0.28847	.	0.000000	0.37219	N	0.002189	T	0.01835	0.0058	N	0.02539	-0.55	0.31229	N	0.696541	B;B;B;B;B	0.20671	0.002;0.047;0.028;0.047;0.047	B;B;B;B;B	0.16289	0.004;0.015;0.007;0.015;0.015	T	0.24905	-1.0147	10	0.33141	T	0.24	.	13.1965	0.59740	0.6587:0.3413:0.0:0.0	.	1101;3830;3830;3826;3818	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Q	3826;3830;3776;3830;1672	ENSP00000348573:P3826Q;ENSP00000351922:P3830Q;ENSP00000350813:P3776Q;ENSP00000378042:P1672Q	ENSP00000348573:P3826Q	P	+	2	0	AKAP9	91574603	0.829000	0.29322	0.985000	0.45067	0.507000	0.33981	1.454000	0.35178	0.813000	0.34350	0.655000	0.94253	CCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		12	755	1	0	3.27435e-08	1.49906e-05	1.58341e-05	12	755				
ZNF28	7576	broad.mit.edu	37	19	53303242	53303242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53303242G>A	ENST00000457749.2	-	4	1975	c.1856C>T	c.(1855-1857)aCa>aTa	p.T619I	ZNF28_ENST00000438150.2_Missense_Mutation_p.T566I|ZNF28_ENST00000360272.4_Missense_Mutation_p.T566I|ZNF28_ENST00000414252.2_Missense_Mutation_p.T566I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	619					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AAGCGATGATGTCTGACGGAA	0.458																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1696-1698)aCa>aTa		zinc finger protein 28							247.0	218.0	228.0					19																	53303242		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303242G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1856C>T	19.37:g.53303242G>A	ENSP00000397693:p.Thr619Ile					ZNF28_ENST00000414252.2_Missense_Mutation_p.T566I|ZNF28_ENST00000360272.4_Missense_Mutation_p.T566I|ZNF28_ENST00000457749.2_Missense_Mutation_p.T619I	p.T566I			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2590	-			619					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1697C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	4.339	0.062262	0.08388	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.01034	5.42;5.42;5.42;5.42	1.94	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00496	0.0016	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	9	0.23302	T	0.38	.	0.9218	0.01316	0.1737:0.2031:0.1653:0.4579	.	619	P17035	ZNF28_HUMAN	I	566;619;566;566	ENSP00000412143:T566I;ENSP00000397693:T619I;ENSP00000353410:T566I;ENSP00000444965:T566I	ENSP00000353410:T566I	T	-	2	0	ZNF28	57995054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.863000	0.01651	-1.310000	0.02312	-1.868000	0.00555	ACA		0.458	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		68	844	0	0	0	2.47226e-05	0	68	844				
KDELC1	79070	broad.mit.edu	37	13	103443745	103443745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:103443745C>A	ENST00000376004.4	-	5	1044	c.708G>T	c.(706-708)ttG>ttT	p.L236F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	236						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCAGTCTCCCAAATTAACAA	0.398																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(706-708)ttG>ttT		KDEL (Lys-Asp-Glu-Leu) containing 1							154.0	171.0	165.0					13																	103443745		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443745C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.708G>T	13.37:g.103443745C>A	ENSP00000365172:p.Leu236Phe					KDELC1_ENST00000460338.1_5'UTR	p.L236F	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1044	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		236					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.708G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667106	0.67814	.	.	ENSG00000134901	ENST00000376004	T	0.25085	1.82	5.91	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.72032	D	0.01	.	7.9817	0.30188	0.1148:0.6657:0.0:0.2194	.	236	Q6UW63	KDEL1_HUMAN	F	236	ENSP00000365172:L236F	ENSP00000365172:L236F	L	-	3	2	KDELC1	102241746	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	0.660000	0.25009	0.341000	0.23771	-0.345000	0.07892	TTG		0.398	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			11	1078	1	0	1.08611e-07	3.07112e-06	5.20652e-05	11	1078				
DLX6	1750	broad.mit.edu	37	7	96635385	96635385	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:96635385G>A	ENST00000007660.5	+	1	95		c.e1+1		DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000518156.2_Silent_p.Q32Q	NM_005222.3	NP_005213.3	P56179	DLX6_HUMAN	distal-less homeobox 6						anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					agcagcagcagcaacagcagc	0.657																																						ENST00000007660.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.e1+1		distal-less homeobox 6							5.0	7.0	6.0					7																	96635385		1971	3959	5930	SO:0001630	splice_region_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635385G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000007660.5:c.95+1G>A	7.37:g.96635385G>A						DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000518156.2_Silent_p.Q32Q|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA		NM_005222.3	NP_005213.3	P56179	DLX6_HUMAN			1	95	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)							A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Splice_Site	SNP	ENST00000007660.5	37																																																																																						0.657	DLX6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_005222	Intron	5	56	0	0	0	1.23904e-05	0	5	56				
RPIA	22934	broad.mit.edu	37	2	89035229	89035229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:89035229C>A	ENST00000283646.4	+	6	626	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	191					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTATGCTAGTCGCTTCATCGT	0.493																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(571-573)Cgc>Agc		ribose 5-phosphate isomerase A							194.0	189.0	191.0					2																	89035229		1978	4159	6137	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035229C>A	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.571C>A	2.37:g.89035229C>A	ENSP00000283646:p.Arg191Ser						p.R191S	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			6	626	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	191					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.571C>A	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793754	0.31685	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77620	-1.11	5.79	3.98	0.46160	.	0.576251	0.20930	N	0.083101	T	0.67702	0.2921	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.58781	-0.7576	10	0.49607	T	0.09	-1.4737	5.0953	0.14729	0.1406:0.5898:0.0:0.2696	.	191	P49247	RPIA_HUMAN	S	191;57	ENSP00000283646:R191S	ENSP00000283646:R191S	R	+	1	0	RPIA	88816344	0.021000	0.18746	0.972000	0.41901	0.690000	0.40134	0.204000	0.17335	1.449000	0.47699	0.655000	0.94253	CGC		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			14	958	1	0	1.3612e-06	2.31682e-05	0.0006469	14	958				
SF3B1	23451	broad.mit.edu	37	2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	740					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.G740E(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTACCTTTCCTCTGTGTTG	0.343			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		1	Substitution - Missense(1)	p.G740E(1)	haematopoietic_and_lymphoid_tissue(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2218-2220)gGa>gAa		splicing factor 3b, subunit 1, 155kDa							87.0	83.0	85.0					2																	198266713		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266713C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2219G>A	2.37:g.198266713C>T	ENSP00000335321:p.Gly740Glu						p.G740E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2310	-			740					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2219G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036521	0.93630	.	.	ENSG00000115524	ENST00000335508	T	0.62364	0.03	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.107844	0.64402	D	0.000005	T	0.76449	0.3989	M	0.83692	2.655	0.80722	D	1	D	0.55800	0.973	P	0.51974	0.686	T	0.80183	-0.1488	10	0.66056	D	0.02	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	740	O75533	SF3B1_HUMAN	E	740	ENSP00000335321:G740E	ENSP00000335321:G740E	G	-	2	0	SF3B1	197974958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.359000	0.79477	2.619000	0.88677	0.563000	0.77884	GGA		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			76	225	0	0	0	2.47226e-05	0	76	225				
ZNF99	7652	broad.mit.edu	37	19	22940990	22940990	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:22940990A>C	ENST00000596209.1	-	4	1811	c.1721T>G	c.(1720-1722)tTt>tGt	p.F574C	ZNF99_ENST00000397104.3_Missense_Mutation_p.F483C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGATTGCTTAAAAGCTTTGCC	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1447-1449)tTt>tGt		zinc finger protein 99							50.0	54.0	52.0					19																	22940990		2094	4233	6327	SO:0001583	missense	7652							g.chr19:22940990A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1721T>G	19.37:g.22940990A>C	ENSP00000472969:p.Phe574Cys					ZNF99_ENST00000596209.1_Missense_Mutation_p.F574C	p.F483C							5	1447	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1448T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	10.29	1.308831	0.23821	.	.	ENSG00000213973	ENST00000397104	T	0.45668	0.89	1.44	0.101	0.14517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63570	0.2522	M	0.88377	2.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51348	-0.8717	9	0.66056	D	0.02	.	5.428	0.16438	0.7506:0.0:0.0:0.2493	.	483	A8MXY4	ZNF99_HUMAN	C	483	ENSP00000380293:F483C	ENSP00000380293:F483C	F	-	2	0	ZNF99	22732830	0.978000	0.34361	0.001000	0.08648	0.011000	0.07611	4.718000	0.61930	-0.219000	0.10003	0.163000	0.16589	TTT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		113	177	0	0	0	2.47226e-05	0	113	177				
COL23A1	91522	broad.mit.edu	37	5	177676127	177676127	+	Silent	SNP	G	G	T	rs373322265		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:177676127G>T	ENST00000390654.3	-	19	1497	c.1140C>A	c.(1138-1140)tcC>tcA	p.S380S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	380	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGGGAGGCCGGACAAGCCCA	0.637																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1138-1140)tcC>tcA		collagen, type XXIII, alpha 1							152.0	160.0	157.0					5																	177676127		2031	4186	6217	SO:0001819	synonymous_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177676127G>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1140C>A	5.37:g.177676127G>T							p.S380S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	19	1497	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	380			Collagen-like 3.|Gly-rich.		Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	c.1140C>A	CCDS4436.1																																																																																				0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		7	518	1	0	5.18039e-06	5.18039e-06	0.00237987	7	518				
NAP1L3	4675	broad.mit.edu	37	X	92926869	92926869	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:92926869T>C	ENST00000373079.3	-	1	1698	c.1435A>G	c.(1435-1437)Aaa>Gaa	p.K479E	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	479					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGATTGATTTCAGGATGACA	0.363																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1435-1437)Aaa>Gaa		nucleosome assembly protein 1-like 3							70.0	62.0	65.0					X																	92926869		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926869T>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1435A>G	X.37:g.92926869T>C	ENSP00000362171:p.Lys479Glu					NAP1L3_ENST00000475430.1_5'UTR	p.K479E	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1698	-			479					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1435A>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902300	0.33628	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25912	1.77	3.42	3.42	0.39159	.	0.053033	0.64402	D	0.000001	T	0.34774	0.0909	L	0.46947	1.48	0.09310	N	1	D	0.63046	0.992	D	0.64410	0.925	T	0.07385	-1.0775	10	0.62326	D	0.03	.	4.6798	0.12729	0.0:0.1434:0.0:0.8566	.	479	Q99457	NP1L3_HUMAN	E	479;472	ENSP00000362171:K479E	ENSP00000362171:K479E	K	-	1	0	NAP1L3	92813525	0.998000	0.40836	0.715000	0.30552	0.719000	0.41307	1.448000	0.35112	1.588000	0.49971	0.430000	0.28490	AAA		0.363	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		5	132	0	0	0	5.9392e-07	0	5	132				
NOX4	50507	broad.mit.edu	37	11	89133524	89133524	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:89133524A>G	ENST00000263317.4	-	10	1108	c.870T>C	c.(868-870)ccT>ccC	p.P290P	NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000535633.1_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	290	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACAGGCACAAAGGTCCAGAAA	0.398																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(796-798)ccT>ccC		NADPH oxidase 4							48.0	46.0	47.0					11																	89133524		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133524A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.870T>C	11.37:g.89133524A>G						NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Silent_p.P266P	p.P266P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			10	1108	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	290			Ferric oxidoreductase.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.798T>C	CCDS8285.1																																																																																				0.398	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		10	199	0	0	0	3.07112e-06	0	10	199				
FCGBP	8857	broad.mit.edu	37	19	40433627	40433627	+	Silent	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:40433627G>A	ENST00000221347.6	-	2	649	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	214	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTAGCTGTGACCTTTGACC	0.562																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(640-642)gtC>gtT		Fc fragment of IgG binding protein							73.0	71.0	72.0					19																	40433627		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433627G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.642C>T	19.37:g.40433627G>A							p.V214V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		214			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.642C>T	CCDS12546.1																																																																																				0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	251	0	0	0	5.3912e-06	0	18	251				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		230	218	0	0	0	2.47226e-05	0	230	218				
SCN3A	6328	broad.mit.edu	37	2	165947203	165947203	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:165947203C>A	ENST00000360093.3	-	28	5951	c.5460G>T	c.(5458-5460)ctG>ctT	p.L1820L	SCN3A_ENST00000409101.3_Silent_p.L1771L|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000283254.7_Silent_p.L1820L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1820					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGAGGATCCAGGGCAGCTG	0.448																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5458-5460)ctG>ctT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						92.0	99.0	96.0					2																	165947203		2203	4298	6501	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947203C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5460G>T	2.37:g.165947203C>A						SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000409101.3_Silent_p.L1771L|AC013463.2_ENST00000431341.1_RNA	p.L1820L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5951	-			1820					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.5460G>T																																																																																					0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		8	468	1	0	1.12685e-05	1.12685e-05	0.00493024	8	468				
JPH1	56704	broad.mit.edu	37	8	75227735	75227735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:75227735C>T	ENST00000342232.4	-	2	540	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	167					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCGCTGCGCAGCGAGGC	0.721																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(499-501)cGc>cAc		junctophilin 1							13.0	13.0	13.0					8																	75227735		2125	4151	6276	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227735C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.500G>A	8.37:g.75227735C>T	ENSP00000344488:p.Arg167His						p.R167H	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	540	-	Breast(64;0.00576)		167					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.500G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214836	0.95104	.	.	ENSG00000104369	ENST00000342232	T	0.63913	-0.07	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82824	-0.0266	10	0.49607	T	0.09	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	167	Q9HDC5	JPH1_HUMAN	H	167	ENSP00000344488:R167H	ENSP00000344488:R167H	R	-	2	0	JPH1	75390290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.489000	0.81451	2.284000	0.76573	0.655000	0.94253	CGC		0.721	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			7	77	0	0	0	2.0095e-06	0	7	77				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		6	387	0	0	0	5.9392e-07	0	6	387				
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	G	A	rs375216280	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:130877893G>A	ENST00000409914.2	-	3	595	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	POTEF_ENST00000357462.5_Missense_Mutation_p.R66C|POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602													.|||	9	0.00179712	0.0045	0.0	5008	,	,		15108	0.003		0.0	False		,,,				2504	0.0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(196-198)Cgc>Tgc		POTE ankyrin domain family, member F		G	CYS/ARG	5,4333		0,5,2164	89.0	123.0	111.0		196		0.1	2		111	6,8582		0,6,4288	no	missense	POTEF	NM_001099771.2	180	0,11,6452	AA,AG,GG		0.0699,0.1153,0.0851	possibly-damaging	66/1076	130877893	11,12915	2169	4294	6463	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877893G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.196C>T	2.37:g.130877893G>A	ENSP00000386786:p.Arg66Cys					POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000409914.2_Missense_Mutation_p.R66C	p.R66C			A5A3E0	POTEF_HUMAN			1	289	-			66					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.196C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.672	-0.801492	0.02841	0.001153	6.99E-4	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.74;1.76	.	.	.	.	.	.	.	.	T	0.52549	0.1741	N	0.01352	-0.895	0.09310	N	1	D	0.56521	0.976	P	0.52066	0.689	T	0.51052	-0.8754	7	0.41790	T	0.15	.	.	.	.	.	66	A5A3E0	POTEF_HUMAN	C	66	ENSP00000350052:R66C;ENSP00000386786:R66C;ENSP00000354232:R66C;ENSP00000355012:R66C	ENSP00000350052:R66C	R	-	1	0	POTEF	130594363	0.006000	0.16342	0.069000	0.20011	0.086000	0.17979	-0.679000	0.05203	-1.372000	0.02137	-1.353000	0.01230	CGC		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		10	935	0	0	0	2.17888e-05	0	10	935				
DNHD1	144132	broad.mit.edu	37	11	6593035	6593035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:6593035G>A	ENST00000527990.2	+	41	14081	c.14081G>A	c.(14080-14082)aGt>aAt	p.S4694N	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4694N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4694					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGGGCACCAGTGACCTGCCA	0.637																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(14080-14082)aGt>aAt		dynein heavy chain domain 1							46.0	56.0	53.0					11																	6593035		2136	4246	6382	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593035G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14081G>A	11.37:g.6593035G>A	ENSP00000436180:p.Ser4694Asn					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4694N	p.S4694N	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14645	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4694					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.14081G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615437	0.03663	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.26067	1.76;1.76	4.75	-5.17	0.02849	Dynein heavy chain (1);	1.578020	0.03032	N	0.152237	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28490	-1.0042	10	0.12103	T	0.63	1.5404	9.9464	0.41611	0.1879:0.1309:0.6813:0.0	.	3782;747;4694	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	N	4694;4694;962	ENSP00000254579:S4694N;ENSP00000436180:S4694N	ENSP00000254579:S4694N	S	+	2	0	DNHD1	6549611	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.007000	0.03667	-0.921000	0.03794	-0.165000	0.13383	AGT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		46	149	0	0	0	1.69351e-05	0	46	149				
ZNF761	388561	broad.mit.edu	37	19	53959318	53959318	+	RNA	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53959318G>A	ENST00000454407.1	+	0	2010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAAGCTTACA	0.428																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							103.0	100.0	101.0					19																	53959318		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959318G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959318G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2010	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		14	408	0	0	0	1.49906e-05	0	14	408				
DHX38	9785	broad.mit.edu	37	16	72130794	72130794	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:72130794C>A	ENST00000268482.3	+	3	906	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	133					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAACGCAGTCGGCAGAGAGA	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(397-399)Cgg>Agg		DEAH (Asp-Glu-Ala-His) box polypeptide 38							172.0	173.0	172.0					16																	72130794		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130794C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.397C>A	16.37:g.72130794C>A						DHX38_ENST00000536867.1_Intron	p.R133R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			3	906	+		Ovarian(137;0.125)	133					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.397C>A	CCDS10907.1																																																																																				0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		18	831	1	0	8.00594e-06	8.00594e-06	0.00358822	18	831				
AKAP6	9472	broad.mit.edu	37	14	33291486	33291486	+	Silent	SNP	C	C	T	rs371708448		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:33291486C>T	ENST00000280979.4	+	13	4637	c.4467C>T	c.(4465-4467)agC>agT	p.S1489S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1489					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTCACAAAGCGAAAAAGCGC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4465-4467)agC>agT		A kinase (PRKA) anchor protein 6		C		1,4405	2.1+/-5.4	0,1,2202	73.0	70.0	71.0		4467	4.6	1.0	14		71	0,8600		0,0,4300	no	coding-synonymous	AKAP6	NM_004274.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1489/2320	33291486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291486C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4467C>T	14.37:g.33291486C>T						AKAP6_ENST00000557272.1_Intron	p.S1489S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4637	+	Breast(36;0.0388)|Prostate(35;0.15)		1489					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4467C>T	CCDS9644.1																																																																																				0.348	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		86	190	0	0	0	2.47226e-05	0	86	190				
KCTD9	54793	broad.mit.edu	37	8	25296876	25296876	+	Silent	SNP	G	G	T	rs368385732		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:25296876G>T	ENST00000221200.4	-	6	638	c.418C>A	c.(418-420)Cga>Aga	p.R140R	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	140	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TCAGGACTTCGGTCAATTAAG	0.368																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(418-420)Cga>Aga		potassium channel tetramerization domain containing 9							40.0	40.0	40.0					8																	25296876		2203	4299	6502	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25296876G>T	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.418C>A	8.37:g.25296876G>T						KCTD9_ENST00000518067.1_5'UTR	p.R140R	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	6	638	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	140			BTB.		Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.418C>A	CCDS6048.1																																																																																				0.368	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		6	206	1	0	5.4927e-09	1.12685e-05	2.70359e-06	6	206				
SPAG17	200162	broad.mit.edu	37	1	118609502	118609502	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:118609502C>T	ENST00000336338.5	-	18	2471	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	802						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTATATTGCTTATGGGCTT	0.358																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2404-2406)aaG>aaA		sperm associated antigen 17							101.0	97.0	98.0					1																	118609502		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118609502C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2406G>A	1.37:g.118609502C>T							p.K802K	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	18	2471	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	802					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.2406G>A	CCDS899.1																																																																																				0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		159	130	0	0	0	2.47226e-05	0	159	130				
TM2D3	80213	broad.mit.edu	37	15	102191940	102191940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:102191940G>T	ENST00000333202.3	-	2	133	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000347970.3_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	43						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTGGGCCCGGATCCTTTAT	0.423																																						ENST00000333202.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(127-129)cCg>cAg		TM2 domain containing 3							161.0	167.0	165.0					15																	102191940		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102191940G>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.128C>A	15.37:g.102191940G>T	ENSP00000330433:p.Pro43Gln					TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TM2D3_ENST00000347970.3_Intron	p.P43Q	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	133	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		43					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.128C>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762555	0.31228	.	.	ENSG00000184277	ENST00000333202	T	0.73152	-0.72	4.28	3.35	0.38373	.	0.429980	0.24318	N	0.039579	T	0.70159	0.3192	L	0.44542	1.39	0.80722	D	1	D;B	0.56746	0.977;0.017	P;B	0.57548	0.823;0.003	T	0.64433	-0.6409	10	0.12766	T	0.61	-20.9337	10.7681	0.46305	0.0:0.1937:0.8063:0.0	.	43;43	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	Q	43	ENSP00000330433:P43Q	ENSP00000330433:P43Q	P	-	2	0	TM2D3	100009463	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	2.657000	0.46724	1.077000	0.40990	0.557000	0.71058	CCG		0.423	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		10	1068	1	0	2.0095e-06	2.0095e-06	0.000946834	10	1068				
LGALS1	3956	broad.mit.edu	37	22	38075643	38075643	+	Missense_Mutation	SNP	G	G	A	rs375290542		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:38075643G>A	ENST00000215909.5	+	4	390	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	99	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAACCTGACCGTCAAGCTGCC	0.567																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(295-297)Gtc>Atc		lectin, galactoside-binding, soluble, 1		G	ILE/VAL	0,4406		0,0,2203	115.0	82.0	93.0		295	-0.1	1.0	22		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS1	NM_002305.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	99/136	38075643	1,13005	2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075643G>A		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.295G>A	22.37:g.38075643G>A	ENSP00000215909:p.Val99Ile					LGALS1_ENST00000489315.1_3'UTR	p.V99I	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			4	390	+	Melanoma(58;0.0574)		99			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.295G>A	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	g	0.469	-0.885255	0.02511	0.0	1.16E-4	ENSG00000100097	ENST00000215909	T	0.04360	3.64	6.08	-0.0473	0.13844	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.237165	0.42294	N	0.000737	T	0.03695	0.0105	L	0.31120	0.905	0.31764	N	0.632933	B	0.11235	0.004	B	0.19666	0.026	T	0.35051	-0.9804	10	0.19590	T	0.45	-0.9193	10.1288	0.42665	0.4005:0.0:0.5995:0.0	.	99	P09382	LEG1_HUMAN	I	99	ENSP00000215909:V99I	ENSP00000215909:V99I	V	+	1	0	LGALS1	36405589	0.451000	0.25705	0.997000	0.53966	0.127000	0.20565	0.715000	0.25822	-0.043000	0.13513	-1.057000	0.02308	GTC		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		50	158	0	0	0	2.47226e-05	0	50	158				
CPNE4	131034	broad.mit.edu	37	3	131283152	131283152	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:131283152G>C	ENST00000512055.1	-	15	3095	c.969C>G	c.(967-969)aaC>aaG	p.N323K	CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K			Q96A23	CPNE4_HUMAN	copine IV	323	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGAACAGCTGTTCCTGGGGT	0.433																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(967-969)aaC>aaG		copine IV							114.0	109.0	111.0					3																	131283152		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131283152G>C	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.969C>G	3.37:g.131283152G>C	ENSP00000421705:p.Asn323Lys					CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K	p.N323K			Q96A23	CPNE4_HUMAN			15	3095	-			323			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.969C>G	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243726	0.58995	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54071	0.6;0.6;0.59;0.6;0.59	5.52	4.65	0.58169	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.58510	1.815	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.74023	0.982;0.313	T	0.65994	-0.6033	10	0.35671	T	0.21	-36.7038	14.6356	0.68686	0.07:0.0:0.93:0.0	.	341;323	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	323;323;341;323;341	ENSP00000421705:N323K;ENSP00000411904:N323K;ENSP00000424853:N341K;ENSP00000423811:N323K;ENSP00000421646:N341K	ENSP00000411904:N323K	N	-	3	2	CPNE4	132765842	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.441000	0.66569	1.350000	0.45770	-0.221000	0.12465	AAC		0.433	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		65	286	0	0	0	2.47226e-05	0	65	286				
PCDH17	27253	broad.mit.edu	37	13	58298909	58298909	+	Silent	SNP	C	C	T	rs138830034	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:58298909C>T	ENST00000377918.3	+	4	2987	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	987					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGAGACTTACGAAACTGTGA	0.413																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2959-2961)taC>taT		protocadherin 17		C		0,4406		0,0,2203	107.0	103.0	104.0		2961	-0.3	1.0	13	dbSNP_134	104	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	PCDH17	NM_001040429.2		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		987/1160	58298909	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298909C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2961C>T	13.37:g.58298909C>T							p.Y987Y	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	2987	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	987					A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2961C>T	CCDS31986.1																																																																																				0.413	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		97	203	0	0	0	2.47226e-05	0	97	203				
OR2W5	441932	broad.mit.edu	37	1	247655339	247655339	+	RNA	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:247655339A>T	ENST00000522351.1	+	0	970							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATGAAGAAACTTCTGGGGT	0.507																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															67.0	68.0	68.0					1																	247655339		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655339A>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655339A>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	970	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.507	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		123	244	0	0	0	2.47226e-05	0	123	244				
RERG	85004	broad.mit.edu	37	12	15262086	15262086	+	Silent	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:15262086G>T	ENST00000256953.2	-	5	894	c.558C>A	c.(556-558)gtC>gtA	p.V186V	RERG_ENST00000536465.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000538313.1_Silent_p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	186					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCTTGCTTGACATGCGTGG	0.517																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(556-558)gtC>gtA		RAS-like, estrogen-regulated, growth inhibitor							125.0	118.0	120.0					12																	15262086		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262086G>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.558C>A	12.37:g.15262086G>T						RERG_ENST00000538313.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000536465.1_Silent_p.V186V	p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	894	-			186					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.558C>A	CCDS8673.1																																																																																				0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		16	858	1	0	2.48779e-11	1.32003e-05	1.24679e-08	16	858				
GPR158	57512	broad.mit.edu	37	10	25701403	25701403	+	Splice_Site	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:25701403G>T	ENST00000376351.3	+	4	1694		c.e4+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAGCAAAGGTAAACCCAGG	0.433																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.e4+1		G protein-coupled receptor 158							118.0	103.0	108.0					10																	25701403		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701403G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1335+1G>T	10.37:g.25701403G>T								NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			4	1694	+								Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37		CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999869	0.93227	.	.	ENSG00000151025	ENST00000376351	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25741409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	.		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Intron	45	303	1	0	1.57945e-13	1.69351e-05	8.06224e-11	45	303				
C11orf30	56946	broad.mit.edu	37	11	76257216	76257216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:76257216G>A	ENST00000529032.1	+	19	3649	c.3649G>A	c.(3649-3651)Gtt>Att	p.V1217I	C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1217					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATCCACTGTTGGCTCTTC	0.512																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3649-3651)Gtt>Att		chromosome 11 open reading frame 30							87.0	89.0	88.0					11																	76257216		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257216G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3649G>A	11.37:g.76257216G>A	ENSP00000432327:p.Val1217Ile					C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I	p.V1217I			Q7Z589	EMSY_HUMAN			19	3649	+			1217					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3649G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162780	0.21538	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	3.0	0.34707	.	0.499003	0.20569	N	0.089772	T	0.36166	0.0957	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.22346	0.068;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20767	0.031;0.0;0.0;0.0;0.0;0.0	T	0.15150	-1.0447	9	0.27082	T	0.32	-1.8144	9.3812	0.38316	0.1312:0.119:0.7498:0.0	.	1126;1218;1232;1218;1119;1217	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	I	1119;1217;899;1232;1126;1218;1218;1217	.	ENSP00000334130:V1217I	V	+	1	0	C11orf30	75934864	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.038000	0.41184	1.580000	0.49851	0.650000	0.86243	GTT		0.512	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		14	326	0	0	0	2.31682e-05	0	14	326				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				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.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		9	417	0	0	0	1.58986e-06	0	9	417				
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143				TPTE2P6_ENST00000440905.1_RNA																							CATCTCTGTACGATGATGTGA	0.358																																						ENST00000453498.1																			0																																																			0							g.chr13:25168471C>T																													13.37:g.25168471C>T														0	1143	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.358	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			7	185	0	0	0	1.49906e-05	0	7	185				
PTCHD2	57540	broad.mit.edu	37	1	11561859	11561859	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:11561859C>T	ENST00000294484.6	+	2	948	c.810C>T	c.(808-810)caC>caT	p.H270H	PTCHD2_ENST00000389575.3_Silent_p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	270					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAGACGCACGCGCACTGGC	0.677																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(808-810)caC>caT		patched domain containing 2							14.0	16.0	15.0					1																	11561859		2024	4164	6188	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561859C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.810C>T	1.37:g.11561859C>T						PTCHD2_ENST00000389575.3_Silent_p.H270H	p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	948	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	270					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.810C>T	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		48	24	0	0	0	2.47226e-05	0	48	24				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		11	249	0	0	0	9.31168e-06	0	11	249				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	640	0	0	0	1.12685e-05	0	7	640				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			19	158	0	0	0	5.52252e-06	0	19	158				
PGBD2	267002	broad.mit.edu	37	1	249211293	249211293	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:249211293C>A	ENST00000329291.5	+	3	657	c.510C>A	c.(508-510)gtC>gtA	p.V170V	PGBD2_ENST00000539153.1_Silent_p.V167V|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	170										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAAAAATGTCAATTTGAGTC	0.383																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(499-501)gtC>gtA		piggyBac transposable element derived 2							131.0	135.0	134.0					1																	249211293		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:249211293C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.510C>A	1.37:g.249211293C>A						PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Silent_p.V170V	p.V167V			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	756	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	170					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.501C>A	CCDS31128.1																																																																																				0.383	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			22	658	1	0	9.90768e-06	9.90768e-06	0.00436953	22	658				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		11	1405	0	0	0	2.0095e-06	0	11	1405				
LINC01317	104355287	broad.mit.edu	37	2	33952825	33952825	+	lincRNA	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:33952825G>C	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GCTCCACGAGGAGGATGACCA	0.617																																						ENST00000366209.2																			0																																																			0							g.chr2:33952825G>C																													2.37:g.33952825G>C						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			7	63	0	0	0	1.12685e-05	0	7	63				
DNAH6	1768	broad.mit.edu	37	2	84784998	84784998	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:84784998C>T	ENST00000237449.6	+	10	1750	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	DNAH6_ENST00000389394.3_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	581	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAACTGGGCCAAGTTTAGCA	0.343																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1741-1743)cCa>cTa		dynein, axonemal, heavy chain 6							91.0	90.0	90.0					2																	84784998		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784998C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1742C>T	2.37:g.84784998C>T	ENSP00000237449:p.Pro581Leu					DNAH6_ENST00000237449.6_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L	p.P581L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1879	+			581			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1742C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109272	0.56398	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.86;1.76	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000083	T	0.51483	0.1677	M	0.70275	2.135	0.54753	D	0.999982	B;D	0.89917	0.344;1.0	B;D	0.79784	0.078;0.993	T	0.54227	-0.8325	10	0.62326	D	0.03	.	17.2596	0.87066	0.0:1.0:0.0:0.0	.	581;160	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	581	ENSP00000374045:P581L;ENSP00000381326:P581L;ENSP00000237449:P581L	ENSP00000237449:P581L	P	+	2	0	DNAH6	84638509	0.998000	0.40836	0.736000	0.30914	0.477000	0.33069	4.964000	0.63701	2.363000	0.80096	0.561000	0.74099	CCA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		178	257	0	0	0	2.47226e-05	0	178	257				
MED1	5469	broad.mit.edu	37	17	37565824	37565824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:37565824C>A	ENST00000300651.6	-	17	2873	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTTTCATCAAAATATTCT	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2650-2652)Gat>Tat		mediator complex subunit 1							108.0	110.0	109.0					17																	37565824		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565824C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2650G>T	17.37:g.37565824C>A	ENSP00000300651:p.Asp884Tyr	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.D884Y	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2873	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	884			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2650G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316261	0.60524	.	.	ENSG00000125686	ENST00000300651	T	0.39997	1.05	6.17	6.17	0.99709	.	.	.	.	.	T	0.53626	0.1808	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.54423	-0.8296	9	0.72032	D	0.01	-11.7191	20.8794	0.99867	0.0:1.0:0.0:0.0	.	884	Q15648	MED1_HUMAN	Y	884	ENSP00000300651:D884Y	ENSP00000300651:D884Y	D	-	1	0	MED1	34819350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.584000	0.82572	2.941000	0.99782	0.655000	0.94253	GAT		0.398	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		9	649	1	0	2.17888e-05	2.17888e-05	0.00896397	9	649				
DYNC1I1	1780	broad.mit.edu	37	7	95665004	95665004	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:95665004T>A	ENST00000324972.6	+	13	1548	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGGGAGACGTCAATAACTTC	0.463																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1354-1356)gTc>gAc		dynein, cytoplasmic 1, intermediate chain 1							323.0	260.0	282.0					7																	95665004		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665004T>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1355T>A	7.37:g.95665004T>A	ENSP00000320130:p.Val452Asp					DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D	p.V452D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1548	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		452					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1355T>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168707	0.57584	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996	D;D;D;D;D	0.78314	0.979;0.991;0.991;0.969;0.923	T	0.82631	-0.0362	10	0.11182	T	0.66	0.0118	15.3616	0.74478	0.0:0.0:0.0:1.0	.	435;432;435;452;415	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	D	435;452;415;432;415;435	ENSP00000392337:V435D;ENSP00000320130:V452D;ENSP00000438377:V415D;ENSP00000398118:V432D;ENSP00000352348:V415D;ENSP00000412444:V435D	ENSP00000320130:V452D	V	+	2	0	DYNC1I1	95502940	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	7.868000	0.87116	2.283000	0.76528	0.477000	0.44152	GTC		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		101	1108	0	0	0	2.47226e-05	0	101	1108				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	53	0	0	0	1.23904e-05	0	4	53				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	412	0	0	0	1.49906e-05	0	10	412				
LAMB4	22798	broad.mit.edu	37	7	107743496	107743496	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:107743496C>T	ENST00000388781.3	-	10	1256	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	LAMB4_ENST00000388780.3_Silent_p.A391A|LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	391	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGAATGCACGCGTAGGGAT	0.577																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1171-1173)gcG>gcA		laminin, beta 4							64.0	57.0	59.0					7																	107743496		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743496C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1173G>A	7.37:g.107743496C>T						LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A	p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			10	1256	-			391			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1173G>A	CCDS34732.1																																																																																				0.577	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		22	78	0	0	0	7.33532e-06	0	22	78				
GREM2	64388	broad.mit.edu	37	1	240656454	240656454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:240656454G>A	ENST00000318160.4	-	2	588	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	108	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTCACGTGCCGCGGGATGTAG	0.672																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(322-324)Cgg>Tgg		gremlin 2, DAN family BMP antagonist							57.0	59.0	58.0					1																	240656454		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656454G>A	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.322C>T	1.37:g.240656454G>A	ENSP00000318650:p.Arg108Trp						p.R108W	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	588	-		all_cancers(173;0.0196)	108			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.322C>T	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861866	0.91433	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.82323	2.585	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.57312	-0.7833	10	0.54805	T	0.06	-17.7704	14.0116	0.64500	0.0:0.0:0.8481:0.1519	.	108	Q9H772	GREM2_HUMAN	W	108	ENSP00000318650:R108W	ENSP00000318650:R108W	R	-	1	2	GREM2	238723077	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	2.290000	0.77057	0.557000	0.71058	CGG		0.672	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		8	269	0	0	0	5.18039e-06	0	8	269				
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135				TPTE2P6_ENST00000440905.1_RNA																							TGACAGTCCATCTCTGTACGA	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168463T>C																													13.37:g.25168463T>C														0	1135	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	169	0	0	0	2.31682e-05	0	6	169				
PREX2	80243	broad.mit.edu	37	8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	463	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R463C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.R463C(2)	skin(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1387-1389)Cgc>Tgc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							76.0	71.0	73.0					8																	68981315		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68981315C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1387C>T	8.37:g.68981315C>T	ENSP00000288368:p.Arg463Cys					PREX2_ENST00000529398.1_3'UTR	p.R463C	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			12	1664	+			463			DEP 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1387C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751767	0.89753	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.14391	2.51	5.72	4.84	0.62591	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.08576	-1.0715	10	0.87932	D	0	.	15.0201	0.71624	0.0:0.9317:0.0:0.0683	.	463;463;463	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	463	ENSP00000288368:R463C	ENSP00000288368:R463C	R	+	1	0	PREX2	69143869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.566000	0.82347	1.559000	0.49555	0.650000	0.86243	CGC		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		74	121	0	0	0	2.47226e-05	0	74	121				
HLA-C	3107	broad.mit.edu	37	6	31239616	31239616	+	Missense_Mutation	SNP	C	C	A	rs1050445	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31239616C>A	ENST00000376228.5	-	2	117	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	HLA-C_ENST00000383329.3_Missense_Mutation_p.A35S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	35	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGACACGGCGGTGTCGAAA	0.721													c|||	1172	0.234026	0.2428	0.2939	5008	,	,		12672	0.2937		0.1948	False		,,,				2504	0.1585					ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(103-105)Gcc>Tcc		major histocompatibility complex, class I, C							18.0	18.0	18.0					6																	31239616		1475	2675	4150	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239616C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.103G>T	6.37:g.31239616C>A	ENSP00000365402:p.Ala35Ser					HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S	p.A35S			Q9TNN7	1C05_HUMAN			2	117	-			35			Alpha-1.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.103G>T	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.895|6.895	0.534735|0.534735	0.13188|0.13188	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00966|.	5.49;5.49|.	2.16|2.16	-2.86|-2.86	0.05717|0.05717	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.333240|.	0.06305|.	U|.	0.701534|.	T|T	0.15912|0.15912	0.0383|0.0383	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B|.	0.06786|.	0.001;0.0;0.0;0.0|.	B;B;B;B|.	0.30105|.	0.111;0.069;0.069;0.069|.	T|T	0.23404|0.23404	-1.0189|-1.0189	9|4	0.02654|.	T|.	1|.	.|.	4.1764|4.1764	0.10353|0.10353	0.5673:0.2969:0.0:0.1358|0.5673:0.2969:0.0:0.1358	rs1050445;rs3190759;rs3190813;rs17413569|rs1050445;rs3190759;rs3190813;rs17413569	35;35;35;35|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	S|L	35;35;35;72|34	ENSP00000365402:A35S;ENSP00000372819:A35S|.	ENSP00000365402:A35S|.	A|R	-|-	1|2	0|0	HLA-C|HLA-C	31347595|31347595	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	-2.010000|-2.010000	0.01454|0.01454	-0.823000|-0.823000	0.04301|0.04301	-0.680000|-0.680000	0.03767|0.03767	GCC|CGC		0.721	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		6	143	1	0	1.76689e-08	2.17888e-05	8.61994e-06	6	143				
SF3B1	23451	broad.mit.edu	37	2	198265629	198265629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198265629T>C	ENST00000335508.6	-	18	2619	c.2528A>G	c.(2527-2529)aAa>aGa	p.K843R	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	843					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCACCTACTTTGTTTGCCAA	0.348			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2527-2529)aAa>aGa		splicing factor 3b, subunit 1, 155kDa							84.0	83.0	84.0					2																	198265629		2203	4299	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265629T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2528A>G	2.37:g.198265629T>C	ENSP00000335321:p.Lys843Arg						p.K843R	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2619	-			843					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2528A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581538	0.65992	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.76433	2.335	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.68447	-0.5406	10	0.52906	T	0.07	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	843	O75533	SF3B1_HUMAN	R	843	ENSP00000335321:K843R	ENSP00000335321:K843R	K	-	2	0	SF3B1	197973874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	AAA		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			65	240	0	0	0	2.47226e-05	0	65	240				
SARDH	1757	broad.mit.edu	37	9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	rs201111406		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14287	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)aCg>aTg		sarcosine dehydrogenase							57.0	65.0	62.0					9																	136573530		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573530G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1349C>T	9.37:g.136573530G>A	ENSP00000360938:p.Thr450Met					SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M	p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1606	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1349C>T	CCDS6978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.65	2.300782	0.40694	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85088	-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.281286	0.39341	N	0.001396	T	0.81498	0.4835	L	0.45228	1.405	0.80722	D	1	P	0.40083	0.702	B	0.37091	0.241	T	0.82196	-0.0577	10	0.42905	T	0.14	-24.2495	18.6122	0.91290	0.0:0.0:1.0:0.0	.	450	Q9UL12	SARDH_HUMAN	M	450;450;282;450;450	ENSP00000360938:T450M;ENSP00000403084:T450M;ENSP00000415537:T282M	ENSP00000360938:T450M	T	-	2	0	SARDH	135563351	1.000000	0.71417	0.902000	0.35471	0.054000	0.15201	7.704000	0.84595	2.378000	0.81104	0.557000	0.71058	ACG		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			8	253	0	0	0	2.17888e-05	0	8	253				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	106	0	0	0	2.56e-06	0	4	106				
ZNF254	9534	broad.mit.edu	37	19	24310056	24310056	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310056T>C	ENST00000357002.4	+	4	1369	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	ZNF254_ENST00000342944.6_Silent_p.S333S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	418					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCTTCAAATCTTA	0.348																																						ENST00000357002.4																			0											c.(1252-1254)tcT>tcC		zinc finger protein 254							40.0	43.0	42.0					19																	24310056		2202	4300	6502	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310056T>C	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1254T>C	19.37:g.24310056T>C						ZNF254_ENST00000342944.6_Silent_p.S333S	p.S418S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1369	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	418					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1254T>C	CCDS32983.1																																																																																				0.348	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	179	0	0	0	1.23904e-05	0	4	179				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	95	0	0	0	2.17888e-05	0	7	95				
MYOT	9499	broad.mit.edu	37	5	137219194	137219194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:137219194T>A	ENST00000239926.4	+	7	1312	c.938T>A	c.(937-939)gTc>gAc	p.V313D	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	313	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTGAAGTAGTCAGAGCTTCA	0.443																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(937-939)gTc>gAc		myotilin							109.0	102.0	104.0					5																	137219194		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219194T>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.938T>A	5.37:g.137219194T>A	ENSP00000239926:p.Val313Asp					MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D	p.V313D	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1312	+			313			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.938T>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221755	0.79464	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.72505	-0.66;-0.66;-0.66	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	D	0.88276	0.6393	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91887	0.5520	10	0.87932	D	0	.	15.1564	0.72746	0.0:0.0:0.0:1.0	.	313	Q9UBF9	MYOTI_HUMAN	D	313;129;198	ENSP00000239926:V313D;ENSP00000391185:V129D;ENSP00000426281:V198D	ENSP00000239926:V313D	V	+	2	0	MYOT	137247093	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.191000	0.72063	2.021000	0.59480	0.533000	0.62120	GTC		0.443	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		45	241	0	0	0	1.39061e-05	0	45	241				
YEATS4	8089	broad.mit.edu	37	12	69759611	69759611	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:69759611G>T	ENST00000247843.2	+	4	550	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	94	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AACAGGATGGGGTGAATTCGA	0.274																																						ENST00000247843.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(280-282)Ggt>Tgt		YEATS domain containing 4							75.0	79.0	78.0					12																	69759611		2203	4292	6495	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69759611G>T	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.280G>T	12.37:g.69759611G>T	ENSP00000247843:p.Gly94Cys					YEATS4_ENST00000548020.1_Intron	p.G94C	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		4	550	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		94			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.280G>T	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955700	0.92726	.	.	ENSG00000127337	ENST00000247843;ENST00000549685;ENST00000552955	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93595	0.6925	8	.	.	.	-13.6897	20.0429	0.97598	0.0:0.0:1.0:0.0	.	94	O95619	YETS4_HUMAN	C	94;36;135	.	.	G	+	1	0	YEATS4	68045878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.146000	0.94640	2.812000	0.96745	0.555000	0.69702	GGT		0.274	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		10	983	1	0	5.50884e-06	5.50884e-06	0.00248927	10	983				
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1381-1383)ttG>ttT		lysine (K)-specific demethylase 5B							95.0	101.0	99.0					1																	202724554		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724554C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe					KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	p.L461F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			11	2547	-			461			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1383G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		17	480	1	0	4.7796e-09	9.90768e-06	2.37378e-06	17	480				
HSPA1L	3305	broad.mit.edu	37	6	31779009	31779009	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31779009G>T	ENST00000375654.4	-	2	930	c.741C>A	c.(739-741)ttC>ttA	p.F247L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	247					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTTCCTCTTGAACTCCTCCA	0.577																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(739-741)ttC>ttA		heat shock 70kDa protein 1-like							67.0	69.0	68.0					6																	31779009		2203	4297	6500	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779009G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.741C>A	6.37:g.31779009G>T	ENSP00000364805:p.Phe247Leu					HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	930	-			247					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.741C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758844	0.49468	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01295	5.04;5.04	5.4	4.53	0.55603	.	0.000000	0.36409	N	0.002612	T	0.08268	0.0206	H	0.96460	3.825	0.80722	D	1	D	0.61080	0.989	D	0.87578	0.998	T	0.00827	-1.1550	10	0.87932	D	0	-8.4819	11.7911	0.52070	0.0842:0.0:0.9158:0.0	.	247	P34931	HS71L_HUMAN	L	247;247;192;137	ENSP00000364805:F247L;ENSP00000387691:F247L	ENSP00000364804:F192L	F	-	3	2	HSPA1L	31886988	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	7.770000	0.85390	1.513000	0.48852	0.585000	0.79938	TTC		0.577	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			13	371	1	0	1.49906e-05	1.49906e-05	0.00640621	13	371				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	373	0	0	0	1.23904e-05	0	5	373				
RYR2	6262	broad.mit.edu	37	1	237995882	237995882	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:237995882A>T	ENST00000366574.2	+	105	15156	c.14839A>T	c.(14839-14841)Agg>Tgg	p.R4947W	RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCAAGAAAGGTGTTGGGA	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14839-14841)Agg>Tgg		ryanodine receptor 2 (cardiac)							93.0	89.0	90.0					1																	237995882		1860	4127	5987	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237995882A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14839A>T	1.37:g.237995882A>T	ENSP00000355533:p.Arg4947Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W	p.R4947W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	15156	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4947					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14839A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333129	0.60853	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.26;-4.29	5.16	4.0	0.46444	.	0.000000	0.56097	D	0.000025	D	0.98460	0.9487	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98802	1.0740	10	0.87932	D	0	-17.2433	11.8212	0.52238	0.7051:0.2949:0.0:0.0	.	4947	Q92736	RYR2_HUMAN	W	4947;4953;4931	ENSP00000355533:R4947W;ENSP00000353174:R4953W;ENSP00000443798:R4931W	ENSP00000353174:R4953W	R	+	1	2	RYR2	236062505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.605000	0.46283	0.932000	0.37266	0.533000	0.62120	AGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	155	0	0	0	1.12685e-05	0	8	155				
RILPL2	196383	broad.mit.edu	37	12	123907604	123907604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:123907604T>A	ENST00000280571.8	-	3	888	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	198					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTTTTTATGATTGTCTTCTCC	0.507																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(592-594)Atc>Ttc		Rab interacting lysosomal protein-like 2							192.0	172.0	179.0					12																	123907604		2203	4300	6503	SO:0001583	missense	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123907604T>A	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.592A>T	12.37:g.123907604T>A	ENSP00000280571:p.Ile198Phe						p.I198F	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	3	888	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		198						Missense_Mutation	SNP	ENST00000280571.8	37	c.592A>T	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342477	0.41498	.	.	ENSG00000150977	ENST00000280571	T	0.45668	0.89	5.0	3.85	0.44370	.	0.229969	0.44688	D	0.000439	T	0.32224	0.0822	L	0.29908	0.895	0.38433	D	0.946505	P	0.49961	0.93	P	0.44860	0.462	T	0.14392	-1.0474	10	0.48119	T	0.1	.	8.3232	0.32140	0.0:0.0913:0.0:0.9087	.	198	Q969X0	RIPL2_HUMAN	F	198	ENSP00000280571:I198F	ENSP00000280571:I198F	I	-	1	0	RILPL2	122473557	0.981000	0.34729	0.610000	0.28997	0.063000	0.16089	1.962000	0.40442	0.858000	0.35431	0.533000	0.62120	ATC		0.507	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		6	321	0	0	0	2.17888e-05	0	6	321				
ZNF90	7643	broad.mit.edu	37	19	20215121	20215121	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:20215121A>C	ENST00000418063.2	+	2	189	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTGCACAGCAGAATTTATAT	0.413																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(76-78)cAg>cCg		zinc finger protein 90																																				SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215121A>C	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.77A>C	19.37:g.20215121A>C	ENSP00000410466:p.Gln26Pro					ZNF90_ENST00000474284.1_Intron	p.Q26P	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			2	189	+			26			KRAB.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.77A>C	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806870	0.16467	.	.	ENSG00000213988	ENST00000418063	T	0.01854	4.6	1.11	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.05044	0.0135	M	0.87900	2.915	0.09310	N	1	B	0.24576	0.106	B	0.28385	0.089	T	0.26087	-1.0113	9	0.87932	D	0	.	5.4433	0.16521	0.6311:0.0:0.3689:0.0	.	26	Q03938	ZNF90_HUMAN	P	26	ENSP00000410466:Q26P	ENSP00000410466:Q26P	Q	+	2	0	ZNF90	20076121	0.004000	0.15560	0.262000	0.24481	0.258000	0.26162	-0.724000	0.04947	-1.315000	0.02297	-1.160000	0.01791	CAG		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		22	575	0	0	0	3.83957e-06	0	22	575				
MAP3K5	4217	broad.mit.edu	37	6	137113237	137113237	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137113237C>G	ENST00000359015.4	-	1	419	c.59G>C	c.(58-60)gGc>gCc	p.G20A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTGCAGAAGCCCGAGGGGGC	0.751																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(58-60)gGc>gCc		mitogen-activated protein kinase kinase kinase 5							5.0	5.0	5.0					6																	137113237		1768	3460	5228	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137113237C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.59G>C	6.37:g.137113237C>G	ENSP00000351908:p.Gly20Ala						p.G20A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	1	419	-	Colorectal(23;0.24)		20					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.59G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228890	0.22542	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.68624	-0.34	3.56	1.67	0.24075	.	0.634408	0.14920	N	0.290736	T	0.20170	0.0485	N	0.14661	0.345	0.18873	N	0.999985	B	0.13594	0.008	B	0.11329	0.006	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.361	0.26745	0.1664:0.7407:0.0:0.0929	.	20	Q99683	M3K5_HUMAN	A	20;100	ENSP00000351908:G20A	ENSP00000351908:G20A	G	-	2	0	MAP3K5	137154930	0.535000	0.26370	0.016000	0.15963	0.025000	0.11179	2.498000	0.45363	0.287000	0.22375	0.573000	0.79308	GGC		0.751	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			36	34	0	0	0	5.96083e-06	0	36	34				
CKAP5	9793	broad.mit.edu	37	11	46783565	46783565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:46783565G>T	ENST00000529230.1	-	32	4252	c.4206C>A	c.(4204-4206)ttC>ttA	p.F1402L	CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAATCAGTTTGAACACCTGAT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4204-4206)ttC>ttA		cytoskeleton associated protein 5							124.0	102.0	110.0					11																	46783565		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46783565G>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4206C>A	11.37:g.46783565G>T	ENSP00000432768:p.Phe1402Leu					CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L	p.F1402L			Q14008	CKAP5_HUMAN			32	4252	-			1402					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4206C>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057912	0.76074	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.046816	0.85682	D	0.000000	T	0.46151	0.1378	L	0.51422	1.61	0.80722	D	1	P;B;B	0.46859	0.885;0.004;0.005	P;B;B	0.45753	0.492;0.003;0.005	T	0.19582	-1.0301	10	0.25106	T	0.35	-9.4526	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1402;1402;1402	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	1402;1402;1402;1402;125	ENSP00000432768:F1402L;ENSP00000395302:F1402L;ENSP00000310227:F1402L;ENSP00000346566:F1402L	ENSP00000310227:F1402L	F	-	3	2	CKAP5	46740141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	TTC		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	330	1	0	2.17888e-05	2.17888e-05	0.00896397	9	330				
TMPRSS11D	9407	broad.mit.edu	37	4	68725370	68725370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:68725370C>T	ENST00000283916.6	-	2	133	c.35G>A	c.(34-36)aGa>aAa	p.R12K	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	12					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCAGAAATCTTGAAGTCGA	0.388																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(34-36)aGa>aAa		transmembrane protease, serine 11D							98.0	88.0	91.0					4																	68725370		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725370C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.35G>A	4.37:g.68725370C>T	ENSP00000283916:p.Arg12Lys					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	p.R12K	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			2	133	-			12					Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.35G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905995	0.72868	.	.	ENSG00000153802	ENST00000283916	D	0.88046	-2.33	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000010	D	0.89529	0.6741	L	0.61387	1.9	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	D	0.88677	0.3199	10	0.41790	T	0.15	.	14.0925	0.65000	0.0:1.0:0.0:0.0	.	12	O60235	TM11D_HUMAN	K	12	ENSP00000283916:R12K	ENSP00000283916:R12K	R	-	2	0	TMPRSS11D	68407965	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	1.993000	0.40747	2.704000	0.92352	0.563000	0.77884	AGA		0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		66	188	0	0	0	2.47226e-05	0	66	188				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	417	0	0	0	1.49906e-05	0	11	417				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	177	0	0	0	5.18039e-06	0	8	177				
FAT4	79633	broad.mit.edu	37	4	126411862	126411862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:126411862G>A	ENST00000394329.3	+	17	13898	c.13885G>A	c.(13885-13887)Gcc>Acc	p.A4629T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4629					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAGCATCGCCCCTTCGGA	0.512																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13885-13887)Gcc>Acc		FAT atypical cadherin 4							75.0	73.0	74.0					4																	126411862		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411862G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13885G>A	4.37:g.126411862G>A	ENSP00000377862:p.Ala4629Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	p.A4629T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13898	+			4629					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13885G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493760	0.64186	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91945	-2.94;-2.39	4.95	4.95	0.65309	.	0.000000	0.34110	U	0.004241	D	0.94807	0.8323	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.94547	0.7750	10	0.45353	T	0.12	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2870;4629;4628	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	4629;2870	ENSP00000377862:A4629T;ENSP00000335169:A2870T	ENSP00000335169:A2870T	A	+	1	0	FAT4	126631312	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GCC		0.512	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	163	0	0	0	5.50884e-06	0	11	163				
THBS3	7059	broad.mit.edu	37	1	155170966	155170966	+	Silent	SNP	G	G	A	rs150820199	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:155170966G>A	ENST00000368378.3	-	12	1379	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Silent_p.N333N|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_De_novo_Start_OutOfFrame|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541576.1_Intron|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	453	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N453N(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCACACACGTTCCCATTCC	0.567																																						ENST00000541990.1																			1	Substitution - coding silent(1)	p.N453N(1)	endometrium(1)	breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48								thrombospondin 3		G		1,4405	2.1+/-5.4	0,1,2202	204.0	165.0	178.0		1359	0.4	1.0	1	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS3	NM_007112.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		453/957	155170966	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170966G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1359C>T	1.37:g.155170966G>A						THBS3_ENST00000457183.2_Silent_p.N333N|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Silent_p.N303N|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541576.1_Intron|THBS3_ENST00000368378.3_Silent_p.N453N				P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		0	1365	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							B1AVR8|B4DQ20|Q8WV34	Translation_Start_Site	SNP	ENST00000368378.3	37		CCDS1099.1																																																																																				0.567	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		8	480	0	0	0	1.12685e-05	0	8	480				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	110	0	0	0	1.23904e-05	0	5	110				
ANKRD24	170961	broad.mit.edu	37	19	4219594	4219594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:4219594C>T	ENST00000600132.1	+	19	3286	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGTGCAGCGTGAGGCCCT	0.572																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3010-3012)Cgt>Tgt		ankyrin repeat domain 24							68.0	77.0	74.0					19																	4219594		2199	4298	6497	SO:0001583	missense	170961							g.chr19:4219594C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3010C>T	19.37:g.4219594C>T	ENSP00000471252:p.Arg1004Cys					ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C	p.R1004C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3286	+			1004					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3010C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854693	0.51376	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37058	1.24;1.22	3.79	-0.142	0.13448	.	.	.	.	.	T	0.41213	0.1149	L	0.27053	0.805	0.41774	D	0.989783	D	0.89917	1.0	D	0.79784	0.993	T	0.23511	-1.0186	9	0.54805	T	0.06	.	9.5198	0.39129	0.5842:0.4158:0.0:0.0	.	1004	Q8TF21	ANR24_HUMAN	C	1004;1094	ENSP00000321731:R1004C;ENSP00000262970:R1094C	ENSP00000262970:R1094C	R	+	1	0	ANKRD24	4170594	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	0.829000	0.27449	-0.035000	0.13691	0.313000	0.20887	CGT		0.572	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		115	531	0	0	0	2.47226e-05	0	115	531				
SNHG14	104472715	broad.mit.edu	37	15	25490493	25490493	+	RNA	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:25490493G>A	ENST00000453082.2	+	0	2644				SNORD115-41_ENST00000363608.1_RNA|SNORD115-40_ENST00000606510.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCCAGTGTCCGTCAGCCTGGT	0.617																																						ENST00000453082.2																			0																																																			0							g.chr15:25490493G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25490493G>A								NR_003343.1						0	2644	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.617	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			95	41	0	0	0	2.47226e-05	0	95	41				
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1771-1773)aCg>aTg		zinc finger protein 606							90.0	88.0	89.0					19																	58490276		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490276G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	p.T591M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2392	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	591					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1772C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		13	385	0	0	0	2.23348e-06	0	13	385				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			8	15						8	15	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	210						7	210	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	296						7	296	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53.0	55.0	54.0					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		8	727						8	727	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		8	289						8	289	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		10	665						10	665	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153659175	153659175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:153659175delC	ENST00000368680.3	+	11	2284	c.1812delC	c.(1810-1812)gacfs	p.D604fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.N607fs*21(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTGCACCGACCCCCCCAATA	0.592																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			1	Insertion - Frameshift(1)	p.N607fs*21(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1810-1812)gafs		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						97.0	87.0	90.0					1																	153659175		2203	4300	6503	SO:0001589	frameshift_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659175delC	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1812delC	1.37:g.153659175delC	ENSP00000357669:p.Asp604fs						p.D604fs	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	2284	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		604			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Del	DEL	ENST00000368680.3	37	c.1812delC	CCDS1051.1																																																																																				0.592	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		8	577						8	577	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	390						7	390	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	793						7	793	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11389837	11389837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:11389837delA	ENST00000315872.6	-	4	860	c.412delT	c.(412-414)tggfs	p.W138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTTCCCAAAAAAAGGCA	0.358																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(412-414)ggfs		Rho-associated, coiled-coil containing protein kinase 2							128.0	123.0	125.0					2																	11389837		1859	4116	5975	SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11389837delA	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.412delT	2.37:g.11389837delA	ENSP00000317985:p.Trp138fs					ROCK2_ENST00000462366.1_5'UTR	p.W138fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	4	860	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		138			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.412delT	CCDS42654.1																																																																																				0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			8	789						8	789	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		13	403						13	403	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		7	308						7	308	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		8	70						8	70	---	---	---	---
CRYGEP	200575	broad.mit.edu	37	2	208976866	208976867	+	RNA	DEL	AA	AA	-	rs35642558|rs7577499	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:208976866_208976867delAA	ENST00000440809.1	-	0	243									crystallin, gamma E, pseudogene																		AGGAAAAGAGAATATAGTTAGA	0.426														864	0.172524	0.0174	0.1945	5008	,	,		18372	0.3938		0.0477	False		,,,				2504	0.2669					ENST00000440809.1																			0																																																			0							g.chr2:208976866_208976867delAA	K03007		2q33.3	2012-02-29	2009-12-02	2009-12-02	ENSG00000229150	ENSG00000229150			2412	pseudogene	pseudogene			"""crystallin, gamma E pseudogene 1"""	CRYG5, CCL, CRYGEP1		8004095	Standard	NG_002762		Approved	G2			OTTHUMG00000154792		2.37:g.208976866_208976867delAA														0	243	-									RNA	DEL	ENST00000440809.1	37																																																																																						0.426	CRYGEP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000337069.1			4	5						4	5	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		9	73						9	73	---	---	---	---
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	140						7	140	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	385						9	385	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			8	185						8	185	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177052725	177052725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:177052725delA	ENST00000280190.4	+	8	1162	c.1006delA	c.(1006-1008)aaafs	p.K336fs	WDR17_ENST00000508596.1_Frame_Shift_Del_p.K312fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.K319fs|WDR17_ENST00000393643.2_Frame_Shift_Del_p.K312fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	336										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATCTCCAACCAAAAATCATTA	0.338																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(934-936)aafs		WD repeat domain 17							154.0	152.0	153.0					4																	177052725		2203	4300	6503	SO:0001589	frameshift_variant	116966							g.chr4:177052725delA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1006delA	4.37:g.177052725delA	ENSP00000280190:p.Lys336fs					WDR17_ENST00000508596.1_Frame_Shift_Del_p.K312fs|WDR17_ENST00000280190.4_Frame_Shift_Del_p.K336fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.K319fs	p.K312fs	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1186	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	336					E7EQX0|Q0QD35	Frame_Shift_Del	DEL	ENST00000280190.4	37	c.934delA	CCDS3825.1																																																																																				0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			7	488						7	488	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70751780	70751798	+	Frame_Shift_Del	DEL	AATCCCCAGCGTGGACGGG	AATCCCCAGCGTGGACGGG	-	rs3748042	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG	ENST00000358731.4	+	1	339_357	c.76_94delAATCCCCAGCGTGGACGGG	c.(76-96)aatccccagcgtggacgggagfs	p.NPQRGRE26fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	26	Interaction with ZBTB43.		N -> S (in dbSNP:rs3748042).		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CACAGCTTCCAATCCCCAGCGTGGACGGGAGTCTCCCAG	0.68																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(76-96)agfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.76_94delAATCCCCAGCGTGGACGGG	5.37:g.70751780_70751798delAATCCCCAGCGTGGACGGG	ENSP00000351575:p.Asn26fs					BDP1_ENST00000380675.2_5'UTR	p.NPQRGRE26fs	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	1	339_357	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	26		N -> S (in dbSNP:rs3748042).	Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	ENST00000358731.4	37	c.76_94delAATCCCCAGCGTGGACGGG	CCDS43328.1																																																																																				0.680	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		14	69						14	69	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		7	581						7	581	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																						ENST00000274542.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)agfs		ring finger protein 145							31.0	34.0	33.0					5																	158630642		2202	4300	6502	SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630642delT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT						RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR	p.K26fs	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	94	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	c.68delA	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		10	170						10	170	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	780						7	780	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		7	471						7	471	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		8	442						8	442	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64530071	64530072	+	RNA	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:64530071_64530072insT	ENST00000426828.1	+	0	891_892				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GTGGCCCTGAATTCTTTTGAGG	0.406																																						ENST00000426828.1																			0																																																			0							g.chr7:64530071_64530072insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530073_64530073dupT								NR_033416.1						0	891_892	+									RNA	INS	ENST00000426828.1	37																																																																																						0.406	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			109	214						109	214	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		7	50						7	50	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108.0	103.0	105.0					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		8	1096						8	1096	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619202	141619203	+	Frame_Shift_Ins	INS	-	-	T	rs562194466		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:141619202_141619203insT	ENST00000548136.1	+	1	586_587	c.527_528insT	c.(526-531)aattttfs	p.NF176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N176I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTGGTGAACAATTTTTTTTGTG	0.381																																						ENST00000548136.1																			1	Substitution - Missense(1)	p.N176I(1)	endometrium(1)	NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)attfs		olfactory receptor, family 9, subfamily A, member 4				0,3918		0,0,1959						2.6	0.9			152	1,8101		0,1,4050	no	frameshift	OR9A4	NM_001001656.1		0,1,6009	A1A1,A1R,RR		0.0123,0.0,0.0083				1,12019				SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619202_141619203insT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.535dupT	7.37:g.141619210_141619210dupT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.I176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	586_587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Ins	INS	ENST00000548136.1	37	c.527_528insT	CCDS43661.1																																																																																				0.381	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		11	697						11	697	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	256						8	256	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10480104	10480104	+	Splice_Site	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:10480104delT	ENST00000382483.3	-	2	831	c.608delA	c.(607-609)aag>ag	p.K203fs	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.e2+1		retinitis pigmentosa 1-like 1							153.0	142.0	145.0					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104delT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.609+1A>-	8.37:g.10480104delT						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	DEL	ENST00000382483.3	37	c.609_splice	CCDS43708.1																																																																																				0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Frame_Shift_Del	9	752						9	752	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	206						8	206	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	1485						7	1485	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaagaafs	p.E2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E2115fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6363)aaaaggfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289348_103289349insT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6361dupA	8.37:g.103289356_103289356dupT	ENSP00000429084:p.Glu2121fs					UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs	p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966_6967	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2121					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.6360_6361insA	CCDS34933.1																																																																																				0.381	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	745						11	745	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-	rs369114535		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:104927779delA	ENST00000436393.2	+	5	1444	c.1203delA	c.(1201-1203)gtafs	p.V401fs	RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs|RIMS2_ENST00000507740.1_Frame_Shift_Del_p.V431fs|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	701					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTACTAAAGTAAAAAAAGGAA	0.323										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Deletion - Frameshift(3)	p.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(1)	large_intestine(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1291-1293)gtfs		regulating synaptic membrane exocytosis 2							98.0	94.0	95.0					8																	104927779		1817	4076	5893	SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104927779delA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1203delA	8.37:g.104927779delA	ENSP00000390665:p.Val401fs	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs|RIMS2_ENST00000436393.2_Frame_Shift_Del_p.V401fs	p.V431fs	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		5	1529	+			701					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37	c.1293delA																																																																																					0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		7	384						7	384	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)cccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	602	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCGGCGGGGGGGTGAG	0.647																																						ENST00000220592.5																			0											c.(1804-1806)ccfs		argonaute RISC catalytic component 2							92.0	101.0	98.0					8																	141554345		2203	4300	6503	SO:0001589	frameshift_variant	27161							g.chr8:141554345delG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1806delC	8.37:g.141554345delG	ENSP00000220592:p.Pro602fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	p.P602fs	NM_012154.3	NP_036286.2					14	1918	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1806delC	CCDS6380.1																																																																																				0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			10	1295						10	1295	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28412986	28412986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:28412986delT	ENST00000375732.1	-	8	848	c.589delA	c.(589-591)aggfs	p.R197fs	MPP7_ENST00000375719.3_Frame_Shift_Del_p.R197fs|MPP7_ENST00000540098.1_Frame_Shift_Del_p.R197fs|MPP7_ENST00000481244.1_5'Flank|MPP7_ENST00000445954.2_Frame_Shift_Del_p.R72fs|MPP7_ENST00000337532.5_Frame_Shift_Del_p.R197fs			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	197	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCTCAGGCCTTTTATCCTCC	0.353																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(589-591)ggfs		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							101.0	102.0	101.0					10																	28412986		2203	4300	6503	SO:0001589	frameshift_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28412986delT	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.589delA	10.37:g.28412986delT	ENSP00000364884:p.Arg197fs					MPP7_ENST00000540098.1_Frame_Shift_Del_p.R197fs|MPP7_ENST00000445954.2_Frame_Shift_Del_p.R72fs|MPP7_ENST00000375719.3_Frame_Shift_Del_p.R197fs|MPP7_ENST00000375732.1_Frame_Shift_Del_p.R197fs	p.R197fs	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			9	865	-			197			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Frame_Shift_Del	DEL	ENST00000375732.1	37	c.589delA	CCDS7158.1																																																																																				0.353	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		7	920						7	920	---	---	---	---
VTI1A	143187	broad.mit.edu	37	10	114220332	114220333	+	Frame_Shift_Ins	INS	-	-	A	rs201100936		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:114220332_114220333insA	ENST00000393077.2	+	2	260_261	c.144_145insA	c.(145-147)aaafs	p.K49fs	VTI1A_ENST00000432306.1_Frame_Shift_Ins_p.K49fs	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	49					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGAAGAAGCGAAAGAACTGGT	0.342			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(142-147)gcaagafs		vesicle transport through interaction with t-SNAREs 1A																																				SO:0001589	frameshift_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114220332_114220333insA	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.147dupA	10.37:g.114220335_114220335dupA	ENSP00000376792:p.Lys49fs					VTI1A_ENST00000432306.1_Frame_Shift_Ins_p.R49fs	p.R49fs	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	2	260_261	+		Colorectal(252;0.0314)|Breast(234;0.183)	49					A2A307|B4E137|Q5W0D7	Frame_Shift_Ins	INS	ENST00000393077.2	37	c.144_145insA	CCDS7575.2																																																																																				0.342	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			7	319						7	319	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123971198	123971200	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:123971198_123971200delAAG	ENST00000369005.1	+	9	7598_7600	c.7258_7260delAAG	c.(7258-7260)aagdel	p.K2423del	TACC2_ENST00000260733.3_In_Frame_Del_p.K501del|TACC2_ENST00000453444.2_In_Frame_Del_p.K2427del|TACC2_ENST00000513429.1_In_Frame_Del_p.K569del|TACC2_ENST00000515273.1_In_Frame_Del_p.K2427del|TACC2_ENST00000515603.1_In_Frame_Del_p.K2378del|TACC2_ENST00000369000.1_In_Frame_Del_p.K127del|TACC2_ENST00000360561.3_In_Frame_Del_p.K501del|TACC2_ENST00000369001.1_In_Frame_Del_p.K127del|TACC2_ENST00000358010.1_In_Frame_Del_p.K569del|TACC2_ENST00000334433.3_In_Frame_Del_p.K2423del|TACC2_ENST00000369004.3_In_Frame_Del_p.K501del|TACC2_ENST00000368999.1_In_Frame_Del_p.K501del	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2423	Poly-Lys.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAAGCCCGCCAAGAAGAAGAAGA	0.576																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7258-7260)del		transforming, acidic coiled-coil containing protein 2																																				SO:0001651	inframe_deletion	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123971198_123971200delAAG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7258_7260delAAG	10.37:g.123971207_123971209delAAG	ENSP00000358001:p.Lys2423del					TACC2_ENST00000513429.1_In_Frame_Del_p.K569del|TACC2_ENST00000453444.2_In_Frame_Del_p.K2427del|TACC2_ENST00000260733.3_In_Frame_Del_p.K501del|TACC2_ENST00000369004.3_In_Frame_Del_p.K501del|TACC2_ENST00000368999.1_In_Frame_Del_p.K501del|TACC2_ENST00000358010.1_In_Frame_Del_p.K569del|TACC2_ENST00000369000.1_In_Frame_Del_p.K127del|TACC2_ENST00000515273.1_In_Frame_Del_p.K2427del|TACC2_ENST00000369001.1_In_Frame_Del_p.K127del|TACC2_ENST00000360561.3_In_Frame_Del_p.K501del|TACC2_ENST00000334433.3_In_Frame_Del_p.K2423del|TACC2_ENST00000515603.1_In_Frame_Del_p.K2378del	p.K2423del	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7598_7600	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2423			Poly-Lys.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	In_Frame_Del	DEL	ENST00000369005.1	37	c.7258_7260delAAG	CCDS7626.1																																																																																				0.576	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	309						7	309	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	484						7	484	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						ENST00000343597.3																			3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)	kidney(2)|ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(805-807)tcfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	998	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		20	226						20	226	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		8	468						8	468	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-	rs372118289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.640	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		15	289						15	289	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919786	57919787	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:57919786_57919787insC	ENST00000355673.3	+	6	1391_1392	c.1035_1036insC	c.(1036-1038)cccfs	p.P346fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.P346fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	346	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGGCCGAAGGCCCCGTGCCCA	0.639																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1033-1038)agcccgfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919786_57919787insC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1039dupC	12.37:g.57919790_57919790dupC	ENSP00000347896:p.Pro346fs					MBD6_ENST00000431731.2_Frame_Shift_Ins_p.SP345fs	p.SP345fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1391_1392	+			345			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.1035_1036insC	CCDS8944.1																																																																																				0.639	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			11	209						11	209	---	---	---	---
SUGT1P3	283507	broad.mit.edu	37	13	41488419	41488420	+	RNA	INS	-	-	A	rs34364962|rs199786451|rs397707905	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:41488419_41488420insA	ENST00000304932.4	-	0	214					NR_003365.2				SUGT1 pseudogene 3																		CCCTTCCTCCCAAAAGTAGACA	0.45													AAAA|AAAA|AAAAA|insertion	1357	0.270966	0.2398	0.1859	5008	,	,		18738	0.3948		0.2475	False		,,,				2504	0.2699					ENST00000304932.4																			0																																																			0							g.chr13:41488419_41488420insA			13q14.11	2013-10-18	2013-10-18	2010-10-27	ENSG00000239827	ENSG00000239827			20513	pseudogene	pseudogene			"""SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae)"", ""suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3"""	SUGT1L1			Standard	NR_003365		Approved		uc001uxq.3		OTTHUMG00000016780		13.37:g.41488423_41488423dupA								NR_003365.2						0	214	-									RNA	INS	ENST00000304932.4	37																																																																																						0.450	SUGT1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044647.3			6	4						6	4	---	---	---	---
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102.0	103.0	102.0					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			10	963						10	963	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			10	424						10	424	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409539	22409539	+	RNA	DEL	C	C	-	rs2178778|rs367992314|rs374912343|rs371270332	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:22409539delC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctTTTTTTTTT	0.428													|||unknown(STR2?)	2067	0.41274	0.3903	0.4697	5008	,	,		16901	0.3373		0.4573	False		,,,				2504	0.4346					ENST00000390441.2																			0																				20.0	18.0	19.0					14																	22409539		1790	4037	5827			0							g.chr14:22409539delC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409539delC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.428	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		7	65						7	65	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	329						7	329	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	551						8	551	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			0							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			17	1254						17	1254	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91527307	91527308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:91527307_91527308insT	ENST00000361188.5	-	3	1418_1419	c.207_208insA	c.(205-210)atatccfs	p.S70fs	PRC1_ENST00000361919.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000556129.1_5'UTR|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGACAGACGGATATGCTTTTGA	0.49																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(205-210)atccgtfs		protein regulator of cytokinesis 1																																				SO:0001589	frameshift_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91527307_91527308insT	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.208dupA	15.37:g.91527308_91527308dupT	ENSP00000354679:p.Ser70fs					PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.R70fs|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Frame_Shift_Ins_p.R70fs|PRC1_ENST00000442656.2_Intron	p.R70fs			O43663	PRC1_HUMAN			3	1418_1419	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		70			Dimerization.			Frame_Shift_Ins	INS	ENST00000361188.5	37	c.207_208insA	CCDS45352.1																																																																																				0.490	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		462	779						462	779	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	82						7	82	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs368873911|rs75843814	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020									DNM1 pseudogene 47																		GATGCTGCTTCTCAGAGCTGCTGT	0.583																																						ENST00000561463.1																			0																																																			0							g.chr15:102292971_102292974delCTCA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292971_102292974delCTCA														0	1017_1020	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.583	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	103						8	103	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		10	129						10	129	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			13	181						13	181	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935344	61935344	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:61935344delT	ENST00000577390.1	-	3	1240	c.286delA	c.(286-288)atcfs	p.I96fs	CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATACTTGATTTTTTTGCTC	0.373																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(286-288)tcfs		cadherin 8, type 2							80.0	76.0	78.0					16																	61935344		2203	4300	6503	SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935344delT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.286delA	16.37:g.61935344delT	ENSP00000462701:p.Ile96fs					CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1240	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	96			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Del	DEL	ENST00000577390.1	37	c.286delA	CCDS10802.1																																																																																				0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	717						7	717	---	---	---	---
CMTM1	113540	broad.mit.edu	37	16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000332695.7_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		8	824						8	824	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		8	125						8	125	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		10	193						10	193	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		14	222						14	222	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CI992039	LMAN1	I		c.(910-915)aaaggafs		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.G305fs	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1629_1630	-		Colorectal(73;0.0946)	305					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		8	268						8	268	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	100						7	100	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		8	558						8	558	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18887992	18887993	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:18887992_18887993insC	ENST00000321949.8	+	14	1731_1732	c.1705_1706insC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.S528fs|CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.S327fs|CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639																																						ENST00000338797.6																		CRTC1/MAML2(516)	2	Deletion - Frameshift(2)	p.S572fs*6(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1753-1755)cccfs		CREB regulated transcription coactivator 1																																				SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18887992_18887993insC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1713dupC	19.37:g.18888000_18888000dupC	ENSP00000323332:p.Ser569fs					CRTC1_ENST00000321949.8_Frame_Shift_Ins_p.P569fs|CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.P327fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.P528fs	p.P585fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1778_1779	+			569						Frame_Shift_Ins	INS	ENST00000321949.8	37	c.1753_1754insC	CCDS32963.1																																																																																				0.639	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		7	263						7	263	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	1490						7	1490	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	941						8	941	---	---	---	---
