#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
GPBP1	65056	broad.mit.edu	37	5	56542308	56542308	+	Silent	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:56542308A>G	ENST00000506184.2	+	7	1765	c.660A>G	c.(658-660)acA>acG	p.T220T	GPBP1_ENST00000424459.3_Silent_p.T240T|GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000264779.6_Silent_p.T227T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000538707.1_Silent_p.T227T			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	220					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTCCACCTACAAAAGTAAGTT	0.373																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(718-720)acA>acG		GC-rich promoter binding protein 1							40.0	43.0	42.0					5																	56542308		2196	4296	6492	SO:0001819	synonymous_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56542308A>G		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.660A>G	5.37:g.56542308A>G						GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000506184.2_Silent_p.T220T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000538707.1_Silent_p.T227T|GPBP1_ENST00000264779.6_Silent_p.T227T	p.T240T	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	8	1994	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	220					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	c.720A>G	CCDS34162.1																																																																																				0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		18	39	0	0	0	1	0	18	39				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	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		7	144	0	0	0	1	0	7	144				
BIN2	51411	broad.mit.edu	37	12	51717863	51717863	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:51717863G>A	ENST00000267012.4	-	1	85	c.24C>T	c.(22-24)ggC>ggT	p.G8G	BIN2_ENST00000452142.2_Silent_p.G8G|BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000544402.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	8					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCCGGCCGCGCCGCCTGCCT	0.706																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(22-24)ggC>ggT		bridging integrator 2							21.0	23.0	22.0					12																	51717863		2188	4277	6465	SO:0001819	synonymous_variant	51411					cytoplasm	protein binding	g.chr12:51717863G>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.24C>T	12.37:g.51717863G>A						BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000452142.2_Silent_p.G8G|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000603260.1_5'UTR	p.G8G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			1	85	-			8					Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	c.24C>T	CCDS8811.1																																																																																				0.706	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			28	71	0	0	0	1	0	28	71				
MUC7	4589	broad.mit.edu	37	4	71347070	71347070	+	Silent	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:71347070A>G	ENST00000304887.5	+	3	799	c.609A>G	c.(607-609)ccA>ccG	p.P203P	MUC7_ENST00000456088.1_Silent_p.P203P|MUC7_ENST00000413702.1_Silent_p.P203P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	203	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAGCTCCACCATCTTCCTCAG	0.587																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(607-609)ccA>ccG		mucin 7, secreted							482.0	394.0	424.0					4																	71347070		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71347070A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.609A>G	4.37:g.71347070A>G						MUC7_ENST00000304887.5_Silent_p.P203P|MUC7_ENST00000456088.1_Silent_p.P203P	p.P203P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	897	+			203			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.609A>G	CCDS3541.1																																																																																				0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	217	0	0	0	1	0	5	217				
SLC6A8	6535	broad.mit.edu	37	X	152960346	152960346	+	Splice_Site	SNP	T	T	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:152960346T>A	ENST00000253122.5	+	12	2243		c.e12+2		SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ATGGCTGAGGTAAGGCTCCCG	0.692																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.e12+2		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						12.0	11.0	11.0					X																	152960346		2194	4267	6461	SO:0001630	splice_region_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960346T>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1767+2T>A	X.37:g.152960346T>A						SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site		NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			12	2243	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Splice_Site	SNP	ENST00000253122.5	37		CCDS14726.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557535	0.45590	.	.	ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6352	0.56679	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A8	152613540	1.000000	0.71417	0.960000	0.40013	0.496000	0.33645	6.100000	0.71473	1.620000	0.50308	0.430000	0.28490	.		0.692	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		Intron	7	9	0	0	0	1	0	7	9				
TJP1	7082	broad.mit.edu	37	15	30053922	30053922	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr15:30053922C>G	ENST00000346128.6	-	7	1218	c.744G>C	c.(742-744)ttG>ttC	p.L248F	TJP1_ENST00000495972.2_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000356107.6_Missense_Mutation_p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	248	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACCTTTCTATCAATGTCTTTG	0.338																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(742-744)ttG>ttC		tight junction protein 1							87.0	84.0	85.0					15																	30053922		1864	4100	5964	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30053922C>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.744G>C	15.37:g.30053922C>G	ENSP00000281537:p.Leu248Phe					TJP1_ENST00000356107.6_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000495972.2_Missense_Mutation_p.L248F	p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	7	1218	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	248			PDZ 2.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.744G>C	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759988	0.69763	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.82	3.74	0.42951	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.69762	0.3147	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;0.986;1.0	D;D;D;D	0.91635	0.979;0.943;0.921;0.999	T	0.72074	-0.4400	9	.	.	.	.	4.2581	0.10728	0.0:0.5536:0.0:0.4464	.	241;248;248;252	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	248;252;248;248;248	ENSP00000281537:L248F;ENSP00000382890:L252F;ENSP00000441202:L248F;ENSP00000348416:L248F	.	L	-	3	2	TJP1	27841214	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.472000	0.45136	1.475000	0.48197	0.561000	0.74099	TTG		0.338	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		31	53	0	0	0	1	0	31	53				
FAM66D	100132923	broad.mit.edu	37	8	11986719	11986719	+	RNA	SNP	G	G	C	rs182717706	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:11986719G>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGGATTTCAGGAAAAGCTGCA	0.522													C|||	6	0.00119808	0.003	0.0	5008	,	,		23680	0.0		0.0	False		,,,				2504	0.002					ENST00000434078.2																			0																																																			0							g.chr8:11986719G>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986719G>C								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.522	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	63	0	0	0	1	0	4	63				
RXRA	6256	broad.mit.edu	37	9	137309089	137309089	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:137309089G>A	ENST00000481739.1	+	5	748	c.696G>A	c.(694-696)gtG>gtA	p.V232V	RXRA_ENST00000540193.1_Silent_p.V135V|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	232	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	ACATGCCGGTGGAGAGGATCC	0.647																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(403-405)gtG>gtA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						149.0	113.0	125.0					9																	137309089		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309089G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.696G>A	9.37:g.137309089G>A						RXRA_ENST00000481739.1_Silent_p.V232V|RXRA_ENST00000356384.4_3'UTR	p.V135V			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	1328	+			232					B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.405G>A	CCDS35172.1																																																																																				0.647	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		39	78	0	0	0	1	0	39	78				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	45	0	0	0	1	0	3	45				
GRHL3	57822	broad.mit.edu	37	1	24663605	24663605	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:24663605A>G	ENST00000350501.5	+	5	777	c.650A>G	c.(649-651)gAa>gGa	p.E217G	GRHL3_ENST00000361548.4_Missense_Mutation_p.E217G|GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	217					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCTCCCCGGAACCCCCATGT	0.567																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(649-651)gAa>gGa		grainyhead-like 3 (Drosophila)							73.0	72.0	73.0					1																	24663605		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663605A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.650A>G	1.37:g.24663605A>G	ENSP00000288955:p.Glu217Gly					GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000350501.5_Missense_Mutation_p.E217G|GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G	p.E217G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	880	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	217					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.650A>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641349	0.47153	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12672	2.85;2.66;2.84;2.86;2.85	6.06	6.06	0.98353	.	0.559595	0.18344	N	0.144089	T	0.12689	0.0308	L	0.33485	1.01	0.43846	D	0.996435	B;B;B	0.27910	0.193;0.161;0.161	B;B;B	0.24701	0.055;0.053;0.033	T	0.13683	-1.0500	10	0.25106	T	0.35	-6.7496	15.7905	0.78357	1.0:0.0:0.0:0.0	.	171;222;217	A2A297;Q8TE85-2;G3XAF0	.;.;.	G	217;124;217;171;222	ENSP00000354943:E217G;ENSP00000340543:E124G;ENSP00000288955:E217G;ENSP00000348333:E171G;ENSP00000236255:E222G	ENSP00000236255:E222G	E	+	2	0	GRHL3	24536192	1.000000	0.71417	0.992000	0.48379	0.748000	0.42578	6.081000	0.71309	2.324000	0.78689	0.533000	0.62120	GAA		0.567	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		32	77	0	0	0	1	0	32	77				
RIPK4	54101	broad.mit.edu	37	21	43161696	43161696	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:43161696C>T	ENST00000352483.2	-	9	1865	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	601					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGATGCGCACGATATTCTCC	0.662																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1801-1803)Gtg>Atg		receptor-interacting serine-threonine kinase 4							45.0	41.0	42.0					21																	43161696		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161696C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1801G>A	21.37:g.43161696C>T	ENSP00000330161:p.Val601Met					RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M	p.V601M			Q96T11	Q96T11_HUMAN			9	1865	-			553					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1801G>A		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392004	0.62066	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000037	D	0.83510	0.5270	M	0.73319	2.225	0.47276	D	0.99937	D	0.89917	1.0	D	0.87578	0.998	D	0.85613	0.1259	10	0.72032	D	0.01	-40.3754	17.2655	0.87085	0.0:1.0:0.0:0.0	.	553	P57078-2	.	M	553;601;490;490;292	ENSP00000332454:V553M;ENSP00000330161:V601M;ENSP00000441754:V490M;ENSP00000442901:V490M	ENSP00000330975:V292M	V	-	1	0	RIPK4	42034765	0.998000	0.40836	0.099000	0.21106	0.722000	0.41435	3.742000	0.55097	2.291000	0.77112	0.655000	0.94253	GTG		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		25	45	0	0	0	1	0	25	45				
ADRBK2	157	broad.mit.edu	37	22	26057597	26057597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr22:26057597C>T	ENST00000324198.6	+	4	511	c.319C>T	c.(319-321)Caa>Taa	p.Q107*		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	107	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGAAGTCGACAAATTTATGA	0.343																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(319-321)Caa>Taa		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						152.0	130.0	137.0					22																	26057597		2203	4300	6503	SO:0001587	stop_gained	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26057597C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.319C>T	22.37:g.26057597C>T	ENSP00000317578:p.Gln107*						p.Q107*	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			4	511	+			107			N-terminal.|RGS.		Q9UGW9	Nonsense_Mutation	SNP	ENST00000324198.6	37	c.319C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477557	0.84640	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	.	.	.	5.93	4.89	0.63831	.	0.062615	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-32.9044	12.238	0.54526	0.17:0.83:0.0:0.0	.	.	.	.	X	107	.	ENSP00000317578:Q107X	Q	+	1	0	ADRBK2	24387597	0.998000	0.40836	0.170000	0.22879	0.319000	0.28217	4.214000	0.58527	1.451000	0.47736	0.655000	0.94253	CAA		0.343	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		18	43	0	0	0	1	0	18	43				
NCKAP5	344148	broad.mit.edu	37	2	133541329	133541329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:133541329G>A	ENST00000409261.1	-	14	3428	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1019										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCAGGGCATCGGGTTTGAATG	0.567																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3055-3057)Cga>Tga		NCK-associated protein 5							34.0	37.0	36.0					2																	133541329		1934	4138	6072	SO:0001587	stop_gained	344148						protein binding	g.chr2:133541329G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3055C>T	2.37:g.133541329G>A	ENSP00000387128:p.Arg1019*					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*	p.R1019*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3428	-			1019					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.3055C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	39	7.801141	0.98498	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	.	.	.	5.25	-2.34	0.06704	.	0.185227	0.23908	U	0.043379	.	.	.	.	.	.	0.37319	D	0.909453	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0012	0.41929	0.1147:0.0:0.4912:0.3941	.	.	.	.	X	1019	.	ENSP00000380603:R1019X	R	-	1	2	NCKAP5	133257799	0.219000	0.23619	0.025000	0.17156	0.156000	0.22039	0.312000	0.19397	-0.138000	0.11434	-0.266000	0.10368	CGA		0.567	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		19	36	0	0	0	1	0	19	36				
SLC28A3	64078	broad.mit.edu	37	9	86903095	86903095	+	Splice_Site	SNP	T	T	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:86903095T>A	ENST00000376238.4	-	12	1199		c.e12-2		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GGATGGAACCTGCAATTTCAG	0.468																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e12-2		solute carrier family 28 (concentrative nucleoside transporter), member 3							117.0	118.0	118.0					9																	86903095		2203	4300	6503	SO:0001630	splice_region_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86903095T>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1150-2A>T	9.37:g.86903095T>A						RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Splice_Site		NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			12	1199	-								A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Splice_Site	SNP	ENST00000376238.4	37		CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021834	0.75275	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0664	0.80878	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC28A3	86092915	1.000000	0.71417	0.994000	0.49952	0.736000	0.42039	5.822000	0.69265	2.254000	0.74563	0.459000	0.35465	.		0.468	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	Intron	65	112	0	0	0	1	0	65	112				
MUC21	394263	broad.mit.edu	37	6	30954953	30954953	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:30954953A>G	ENST00000376296.3	+	2	1242	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1000-1002)gAg>gGg		mucin 21, cell surface associated							139.0	140.0	139.0					6																	30954953		2202	4296	6498	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954953A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1001A>G	6.37:g.30954953A>G	ENSP00000365473:p.Glu334Gly					MUC21_ENST00000486149.2_5'UTR	p.E334G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1242	+			334			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1001A>G	CCDS34388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.86|10.86	1.469256|1.469256	0.26423|0.26423	.|.	.|.	ENSG00000204544|ENSG00000204544	ENST00000450707|ENST00000376296	.|T	.|0.01613	.|4.73	4.44|4.44	-8.89|-8.89	0.00785|0.00785	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00241	.|0.0007	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	.|T	.|0.48614	.|-0.9020	.|8	.|.	.|.	.|.	.|3.5	0.6308|0.6308	0.00794|0.00794	0.3354:0.207:0.2691:0.1885|0.3354:0.207:0.2691:0.1885	.|.	.|334	.|Q5SSG8	.|MUC21_HUMAN	.|G	-1|334	.|ENSP00000365473:E334G	.|.	.|E	+|+	.|2	.|0	MUC21|MUC21	31062932|31062932	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-3.807000|-3.807000	0.00361|0.00361	-2.230000|-2.230000	0.00719|0.00719	0.482000|0.482000	0.46254|0.46254	.|GAG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	455	0	0	0	1	0	5	455				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	180	0	0	0	1	0	4	180				
COL15A1	1306	broad.mit.edu	37	9	101748113	101748113	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:101748113C>T	ENST00000375001.3	+	3	790	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	123	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGGGCCTGCGGCTCTCAGG	0.632																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(367-369)Cgg>Tgg		collagen, type XV, alpha 1							72.0	69.0	70.0					9																	101748113		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748113C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.367C>T	9.37:g.101748113C>T	ENSP00000364140:p.Arg123Trp						p.R123W	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	790	+		Acute lymphoblastic leukemia(62;0.0562)	123			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.367C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945200	0.53079	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.74002	-0.8	5.25	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339351	0.30649	N	0.009161	T	0.81702	0.4878	M	0.64997	1.995	0.32936	D	0.517776	D;D	0.89917	0.999;1.0	D;D	0.71870	0.91;0.975	D	0.85657	0.1286	10	0.87932	D	0	-10.2132	10.5768	0.45231	0.5162:0.4837:0.0:0.0	.	123;93	P39059;B3KTP7	COFA1_HUMAN;.	W	123;93	ENSP00000364140:R123W	ENSP00000364140:R123W	R	+	1	2	COL15A1	100787934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.268000	0.51585	1.300000	0.44818	0.650000	0.86243	CGG		0.632	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	127	0	0	0	1	0	4	127				
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1417-1419)Gcg>Acg		FYVE, RhoGEF and PH domain containing 5							42.0	47.0	45.0					3																	14861995		1988	4153	6141	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861995G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1417G>A	3.37:g.14861995G>A	ENSP00000285046:p.Ala473Thr					FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	p.A473T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1527	+			473					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1417G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113079	0.20795	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74315	-0.83;-0.69	5.01	-5.58	0.02512	.	2.684210	0.01577	N	0.020854	T	0.40694	0.1127	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.44086	T	0.13	2.2389	2.6615	0.05028	0.4363:0.301:0.1636:0.0991	.	232;473	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	473;232	ENSP00000285046:A473T;ENSP00000445949:A232T	ENSP00000285046:A473T	A	+	1	0	FGD5	14836999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.245000	0.08890	-1.022000	0.03346	-0.218000	0.12543	GCG		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		33	67	0	0	0	1	0	33	67				
GPR20	2843	broad.mit.edu	37	8	142367776	142367776	+	Missense_Mutation	SNP	C	C	T	rs370181787		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:142367776C>T	ENST00000377741.3	-	2	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	83					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTCTTGGCCCGGGTGCGGCA	0.652																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(247-249)cGg>cAg		G protein-coupled receptor 20		C	GLN/ARG	0,4406		0,0,2203	98.0	97.0	97.0		248	-4.2	0.0	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR20	NM_005293.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	83/359	142367776	1,13005	2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367776C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.248G>A	8.37:g.142367776C>T	ENSP00000366970:p.Arg83Gln						p.R83Q	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	338	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		83					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.248G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	5.597	0.294934	0.10622	0.0	1.16E-4	ENSG00000204882	ENST00000377741	T	0.72615	-0.67	4.82	-4.24	0.03777	GPCR, rhodopsin-like superfamily (1);	0.671525	0.13211	N	0.405199	T	0.49983	0.1589	N	0.17278	0.47	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27905	-1.0060	10	0.39692	T	0.17	-1.3832	12.7793	0.57469	0.0:0.3469:0.0:0.6531	.	83	Q99678	GPR20_HUMAN	Q	83	ENSP00000366970:R83Q	ENSP00000366970:R83Q	R	-	2	0	GPR20	142436958	0.001000	0.12720	0.013000	0.15412	0.083000	0.17756	-0.402000	0.07223	-0.740000	0.04803	-1.149000	0.01842	CGG		0.652	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		20	71	0	0	0	1	0	20	71				
RNF112	7732	broad.mit.edu	37	17	19318138	19318138	+	Missense_Mutation	SNP	G	G	A	rs577137511	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:19318138G>A	ENST00000461366.1	+	10	1279	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	355	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCGAGCCCGTTGCTGCCTC	0.617													.|||	2	0.000399361	0.0	0.0	5008	,	,		17770	0.002		0.0	False		,,,				2504	0.0					ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1063-1065)cGt>cAt		ring finger protein 112							43.0	55.0	51.0					17																	19318138		2162	4250	6412	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318138G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1064G>A	17.37:g.19318138G>A	ENSP00000454919:p.Arg355His						p.R355H	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			10	1279	+			355					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1064G>A	CCDS58529.1																																																																																				0.617	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		17	36	0	0	0	1	0	17	36				
LOC100507053	100507053	broad.mit.edu	37	4	100082212	100082212	+	RNA	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:100082212G>A	ENST00000500358.2	+	0	3714				RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|PCNAP1_ENST00000595299.1_RNA	NR_037884.1																						GTGTTACTGGGAAGAGAGAGT	0.408																																						ENST00000500358.2																			0																																																			0							g.chr4:100082212G>A																													4.37:g.100082212G>A						PCNAP1_ENST00000595299.1_RNA		NR_037884.1						0	3714	+									RNA	SNP	ENST00000500358.2	37																																																																																						0.408	RP11-696N14.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000364248.1			9	15	0	0	0	1	0	9	15				
ALX4	60529	broad.mit.edu	37	11	44286677	44286677	+	Silent	SNP	G	G	A	rs561018820		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:44286677G>A	ENST00000329255.3	-	4	1066	c.963C>T	c.(961-963)tgC>tgT	p.C321C		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	321					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGGGACCACGCAGGCTGGCA	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		15668	0.001		0.0	False		,,,				2504	0.0					ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(961-963)tgC>tgT		ALX homeobox 4							20.0	20.0	20.0					11																	44286677		2194	4279	6473	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286677G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.963C>T	11.37:g.44286677G>A							p.C321C	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1066	-			321					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.963C>T	CCDS31468.1																																																																																				0.677	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			21	40	0	0	0	1	0	21	40				
MBNL3	55796	broad.mit.edu	37	X	131573638	131573638	+	Start_Codon_SNP	SNP	A	A	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:131573638A>T	ENST00000370853.3	-	1	80	c.2T>A	c.(1-3)aTg>aAg	p.M1K	MBNL3_ENST00000370857.3_Start_Codon_SNP_p.M1K|MBNL3_ENST00000370844.1_Intron|MBNL3_ENST00000370839.3_Start_Codon_SNP_p.M1K	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	1					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GACAGCCGTCATATTGAAAGC	0.378																																						ENST00000370857.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(1-3)aTg>aAg		muscleblind-like splicing regulator 3							114.0	116.0	115.0					X																	131573638		2203	4298	6501	SO:0001582	initiator_codon_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131573638A>T	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.2T>A	X.37:g.131573638A>T	ENSP00000359890:p.Met1Lys					MBNL3_ENST00000370844.1_Intron|MBNL3_ENST00000370853.3_Start_Codon_SNP_p.M1K|MBNL3_ENST00000370839.3_Start_Codon_SNP_p.M1K	p.M1K			Q9NUK0	MBNL3_HUMAN			1	67	-	Acute lymphoblastic leukemia(192;0.000127)		1					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Translation_Start_Site	SNP	ENST00000370853.3	37	c.2T>A	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436536	0.62955	.	.	ENSG00000076770	ENST00000370857;ENST00000370853;ENST00000370839	T;T;T	0.42131	0.99;0.98;0.98	5.69	3.17	0.36434	.	0.000000	0.64402	D	0.000005	T	0.27697	0.0681	.	.	.	0.80722	D	1	B;B	0.32467	0.372;0.241	B;B	0.28011	0.085;0.085	T	0.23868	-1.0176	9	0.87932	D	0	-13.0591	3.9649	0.09426	0.4453:0.0:0.1096:0.4451	.	1;1	Q9NUK0;Q9NUK0-2	MBNL3_HUMAN;.	K	1	ENSP00000359894:M1K;ENSP00000359890:M1K;ENSP00000359876:M1K	ENSP00000359876:M1K	M	-	2	0	MBNL3	131401319	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.256000	0.58810	1.926000	0.55796	0.425000	0.28330	ATG		0.378	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388	Missense_Mutation	111	214	0	0	0	1	0	111	214				
LAMA5	3911	broad.mit.edu	37	20	60909090	60909090	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr20:60909090C>A	ENST00000252999.3	-	23	2811	c.2745G>T	c.(2743-2745)agG>agT	p.R915S	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	915	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCCACGATCCTGGGCTGGG	0.672																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2743-2745)agG>agT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	32.0	33.0					20																	60909090		2199	4297	6496	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60909090C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2745G>T	20.37:g.60909090C>A	ENSP00000252999:p.Arg915Ser						p.R915S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		23	2811	-	Breast(26;1.57e-08)		915			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2745G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.981789	0.34942	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.54	1.01	0.19927	.	0.235548	0.44097	U	0.000500	T	0.11665	0.0284	L	0.42686	1.345	0.80722	D	1	P	0.39480	0.675	B	0.34824	0.19	T	0.17379	-1.0371	10	0.22706	T	0.39	.	9.6626	0.39965	0.0:0.684:0.0:0.316	.	915	O15230	LAMA5_HUMAN	S	915	ENSP00000252999:R915S	ENSP00000252999:R915S	R	-	3	2	LAMA5	60342485	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.767000	0.26575	0.353000	0.24079	-0.283000	0.09986	AGG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		12	26	1	0	0.00010058	1	0.00010058	12	26				
GGNBP2	79893	broad.mit.edu	37	17	34941754	34941754	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:34941754A>T	ENST00000304718.4	+	10	1556	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	414					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAAATAGCAGCTGCAAAGC	0.378																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1240-1242)Agc>Tgc		gametogenetin binding protein 2							88.0	91.0	90.0					17																	34941754		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34941754A>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1240A>T	17.37:g.34941754A>T	ENSP00000307617:p.Ser414Cys						p.S414C	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	10	1556	+		Breast(25;0.00957)|Ovarian(249;0.17)	414					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1240A>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016761	0.75161	.	.	ENSG00000005955	ENST00000304718	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.50497	0.1619	N	0.19112	0.55	0.80722	D	1	D;D;P	0.67145	0.996;0.969;0.891	P;P;B	0.56514	0.8;0.73;0.417	T	0.54248	-0.8322	8	0.54805	T	0.06	-9.3851	10.4761	0.44665	0.9279:0.0:0.0721:0.0	.	414;414;414	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	C	414	.	ENSP00000307617:S414C	S	+	1	0	GGNBP2	32015867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.090000	0.57693	2.371000	0.80710	0.533000	0.62120	AGC		0.378	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	111	0	0	0	1	0	55	111				
RAPSN	5913	broad.mit.edu	37	11	47469404	47469404	+	Missense_Mutation	SNP	C	C	T	rs374588028		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:47469404C>T	ENST00000298854.2	-	2	704	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H|RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	164			R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor). {ECO:0000269|PubMed:16931511}.		positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCAGCACACGCGGCACTCGAG	0.632																																						ENST00000298854.2																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(490-492)cGc>cAc		receptor-associated protein of the synapse		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	39.0	31.0	33.0		491,491	5.1	1.0	11		33	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	RAPSN	NM_005055.4,NM_032645.4	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	164/413,164/354	47469404	1,12995	2201	4297	6498	SO:0001583	missense	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47469404C>T		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.491G>A	11.37:g.47469404C>T	ENSP00000298854:p.Arg164His					RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H	p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN			2	704	-			164		R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor).			Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.491G>A	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831264	0.91036	0.0	1.16E-4	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	T;T;T;T	0.74002	-0.8;1.17;1.19;1.17	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049610	0.85682	D	0.000000	T	0.76004	0.3927	L	0.27053	0.805	0.58432	D	0.999999	P;D;D	0.58970	0.931;0.966;0.984	B;P;P	0.55871	0.34;0.707;0.786	T	0.78290	-0.2261	10	0.54805	T	0.06	-26.1831	18.9738	0.92725	0.0:1.0:0.0:0.0	.	164;164;164	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	H	164	ENSP00000298854:R164H;ENSP00000298853:R164H;ENSP00000435551:R164H;ENSP00000431732:R164H	ENSP00000298854:R164H	R	-	2	0	RAPSN	47425980	1.000000	0.71417	0.960000	0.40013	0.464000	0.32679	7.307000	0.78920	2.565000	0.86533	0.557000	0.71058	CGC		0.632	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			8	22	0	0	0	1	0	8	22				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	193	0	0	0	1	0	7	193				
MUC5B	727897	broad.mit.edu	37	11	1267410	1267410	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:1267410G>A	ENST00000529681.1	+	31	9358	c.9300G>A	c.(9298-9300)ccG>ccA	p.P3100P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3103P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3100	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCACTCCGGAGACCACCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9307-9309)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							74.0	101.0	92.0					11																	1267410		2106	4207	6313	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267410G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9300G>A	11.37:g.1267410G>A						MUC5B_ENST00000529681.1_Silent_p.P3100P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3103P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9367	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3100	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9309G>A	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		54	134	0	0	0	1	0	54	134				
QSOX2	169714	broad.mit.edu	37	9	139108552	139108552	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:139108552G>A	ENST00000358701.5	-	9	1140	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	368					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.P368L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTTGACTGGCGGCCGTCCAGG	0.642																																						ENST00000358701.5																			1	Substitution - Missense(1)	p.P368L(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1102-1104)cCg>cTg		quiescin Q6 sulfhydryl oxidase 2							62.0	58.0	60.0					9																	139108552		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139108552G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1103C>T	9.37:g.139108552G>A	ENSP00000351536:p.Pro368Leu						p.P368L	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	9	1140	-		Myeloproliferative disorder(178;0.0511)	368					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1103C>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	g	4.320	0.058795	0.08339	.	.	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.16324	2.35	4.45	-0.161	0.13371	.	0.522319	0.20872	N	0.084153	T	0.18635	0.0447	M	0.81942	2.565	0.09310	N	0.999999	B	0.16603	0.018	B	0.09377	0.004	T	0.19321	-1.0309	10	0.49607	T	0.09	-14.2821	6.7379	0.23419	0.179:0.0:0.6211:0.1999	.	368	Q6ZRP7	QSOX2_HUMAN	L	368;167	ENSP00000351536:P368L	ENSP00000351536:P368L	P	-	2	0	QSOX2	138248373	0.345000	0.24835	0.001000	0.08648	0.017000	0.09413	0.875000	0.28079	0.333000	0.23563	-0.298000	0.09462	CCG		0.642	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		29	78	0	0	0	1	0	29	78				
PTCHD4	442213	broad.mit.edu	37	6	47846053	47846053	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:47846053C>T	ENST00000339488.4	-	3	2560	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	843						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACTGTGGTGACGTGATCCGGG	0.453																																						ENST00000339488.4																			0											c.(2527-2529)Gtc>Atc		patched domain containing 4							153.0	156.0	155.0					6																	47846053		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846053C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2527G>A	6.37:g.47846053C>T	ENSP00000341914:p.Val843Ile						p.V843I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2560	-			843					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2527G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336091	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.92495	-3.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	N	0.02916	-0.46	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81883	-0.0728	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	843	Q6ZW05	CF138_HUMAN	I	843	ENSP00000341914:V843I	ENSP00000341914:V843I	V	-	1	0	C6orf138	47954012	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	7.175000	0.77632	2.850000	0.98022	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		68	183	0	0	0	1	0	68	183				
ENPEP	2028	broad.mit.edu	37	4	111427803	111427803	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:111427803A>G	ENST00000265162.5	+	4	1271	c.929A>G	c.(928-930)tAt>tGt	p.Y310C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	310					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTTACAATTTATGTCCAGCCA	0.294																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(928-930)tAt>tGt		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						58.0	57.0	57.0					4																	111427803		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111427803A>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.929A>G	4.37:g.111427803A>G	ENSP00000265162:p.Tyr310Cys						p.Y310C	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	4	1271	+		Hepatocellular(203;0.217)	310					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.929A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897224	0.72639	.	.	ENSG00000138792	ENST00000265162	T	0.05025	3.51	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.162163	0.56097	D	0.000022	T	0.28962	0.0719	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02829	-1.1105	10	0.87932	D	0	.	16.1524	0.81632	1.0:0.0:0.0:0.0	.	310	Q07075	AMPE_HUMAN	C	310	ENSP00000265162:Y310C	ENSP00000265162:Y310C	Y	+	2	0	ENPEP	111647252	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.066000	0.71185	2.223000	0.72356	0.533000	0.62120	TAT		0.294	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			34	57	0	0	0	1	0	34	57				
F8	2157	broad.mit.edu	37	X	154157638	154157638	+	Missense_Mutation	SNP	C	C	T	rs142955808		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:154157638C>T	ENST00000360256.4	-	14	4627	c.4427G>A	c.(4426-4428)aGa>aAa	p.R1476K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1476	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAACCTCTCTTTGATCACC	0.438																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4426-4428)aGa>aAa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73.0	67.0	69.0					X																	154157638		2203	4298	6501	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157638C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4427G>A	X.37:g.154157638C>T	ENSP00000353393:p.Arg1476Lys						p.R1476K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4627	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1476			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4427G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-2.013562	0.00422	.	.	ENSG00000185010	ENST00000360256	D	0.99005	-5.32	5.47	0.538	0.17150	.	1.105250	0.06712	N	0.773356	D	0.96156	0.8747	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	D	0.90065	0.4159	10	0.02654	T	1	0.0025	7.2088	0.25921	0.0:0.3108:0.0:0.6892	.	1476	P00451	FA8_HUMAN	K	1476	ENSP00000353393:R1476K	ENSP00000353393:R1476K	R	-	2	0	F8	153810832	0.029000	0.19370	0.006000	0.13384	0.046000	0.14306	-0.045000	0.12003	0.054000	0.16065	0.540000	0.68198	AGA		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			19	185	0	0	0	1	0	19	185				
PCDHGC3	5098	broad.mit.edu	37	5	140857255	140857255	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:140857255C>T	ENST00000308177.3	+	1	1676	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAGTGCCCCTAGACTATG	0.488																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1570-1572)ccC>ccT									49.0	52.0	51.0					5																	140857255		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140857255C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1572C>T	5.37:g.140857255C>T						PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P524P	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1676	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1572C>T	CCDS4261.1																																																																																				0.488	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		38	91	0	0	0	1	0	38	91				
SNHG14	104472715	broad.mit.edu	37	15	25346809	25346809	+	RNA	SNP	G	G	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr15:25346809G>C	ENST00000546682.1	+	0	1475				SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNORD116-27_ENST00000516087.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGAGCTGAGGTCCAGCACA	0.418																																						ENST00000546682.1																			0																				55.0	52.0	53.0					15																	25346809		876	1991	2867			0							g.chr15:25346809G>C			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.25346809G>C						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-27_ENST00000516087.1_RNA		NR_003361.1						0	1475	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.418	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			38	74	0	0	0	1	0	38	74				
TRPM2	7226	broad.mit.edu	37	21	45861583	45861583	+	Silent	SNP	C	C	T	rs374406565		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:45861583C>T	ENST00000397928.1	+	32	4840	c.4395C>T	c.(4393-4395)caC>caT	p.H1465H	TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.H1411H|snoZ6_ENST00000583496.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAACCTGCACGCCTGCGACT	0.662																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(4393-4395)caC>caT		transient receptor potential cation channel, subfamily M, member 2		C		2,4404	4.2+/-10.8	0,2,2201	54.0	44.0	47.0		4395	-8.0	0.0	21		47	0,8598		0,0,4299	no	coding-synonymous	TRPM2	NM_003307.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		1465/1504	45861583	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861583C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4395C>T	21.37:g.45861583C>T						TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300481.9_Silent_p.H1411H	p.H1465H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			32	4840	+			1465			Nudix hydrolase.		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.4395C>T	CCDS13710.1																																																																																				0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		16	48	0	0	0	1	0	16	48				
COL4A5	1287	broad.mit.edu	37	X	107683420	107683420	+	Missense_Mutation	SNP	A	A	T	rs281874760		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:107683420A>T	ENST00000361603.2	+	1	309	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	COL4A6_ENST00000334504.7_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A5_ENST00000328300.6_Missense_Mutation_p.Q22L|COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000538570.1_5'Flank|COL4A6_ENST00000461897.1_5'Flank|COL4A6_ENST00000394872.2_5'Flank|COL4A5_ENST00000477429.1_3'UTR	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	22					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTTGGGGGCAGCCTGCAGAG	0.602									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(64-66)cAg>cTg		collagen, type IV, alpha 5							48.0	38.0	42.0					X																	107683420		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107683420A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.65A>T	X.37:g.107683420A>T	ENSP00000354505:p.Gln22Leu					COL4A5_ENST00000361603.2_Missense_Mutation_p.Q22L|COL4A5_ENST00000477429.1_3'UTR	p.Q22L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			1	309	+			22					Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.65A>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852845	0.51270	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.90844	-2.74;-2.56	4.68	3.54	0.40534	.	0.541233	0.17749	N	0.163314	T	0.75693	0.3884	N	0.08118	0	0.27806	N	0.942328	B;B	0.29037	0.231;0.231	B;B	0.19391	0.025;0.025	T	0.65561	-0.6138	10	0.30078	T	0.28	.	5.2639	0.15588	0.8735:0.0:0.1265:0.0	.	22;22	E7EVY4;P29400	.;CO4A5_HUMAN	L	22	ENSP00000331902:Q22L;ENSP00000354505:Q22L	ENSP00000331902:Q22L	Q	+	2	0	COL4A5	107570076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	1.798000	0.52647	0.486000	0.48141	CAG		0.602	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			18	43	0	0	0	1	0	18	43				
USP15	9958	broad.mit.edu	37	12	62778055	62778055	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62778055G>C	ENST00000280377.5	+	11	1503	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	USP15_ENST00000353364.3_Missense_Mutation_p.R453T|USP15_ENST00000393654.3_Missense_Mutation_p.R457T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	482	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACTTAGTTAGAATGGATCCA	0.313																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1444-1446)aGa>aCa		ubiquitin specific peptidase 15							71.0	65.0	67.0					12																	62778055		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62778055G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1445G>C	12.37:g.62778055G>C	ENSP00000280377:p.Arg482Thr					USP15_ENST00000393654.3_Missense_Mutation_p.R457T|USP15_ENST00000353364.3_Missense_Mutation_p.R453T	p.R482T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1503	+			482					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1445G>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062273	0.76187	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19806	2.12;2.16;2.12	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.206543	0.51477	D	0.000095	T	0.25269	0.0614	L	0.31804	0.96	0.80722	D	1	B;P	0.38565	0.146;0.637	B;P	0.46299	0.099;0.511	T	0.01393	-1.1366	9	.	.	.	-19.3005	18.8461	0.92208	0.0:0.0:1.0:0.0	.	482;453	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	T	453;482;457	ENSP00000258123:R453T;ENSP00000280377:R482T;ENSP00000377264:R457T	.	R	+	2	0	USP15	61064322	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.690000	0.91761	0.655000	0.94253	AGA		0.313	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		9	203	0	0	0	1	0	9	203				
TTN	7273	broad.mit.edu	37	2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	rs201687390		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179423251C>T	ENST00000591111.1	-	277	82236	c.82012G>A	c.(82012-82014)Gtt>Att	p.V27338I	TTN_ENST00000589042.1_Missense_Mutation_p.V28979I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 99. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTTCAACGACATAGTGT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86935-86937)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,3790		0,2,1894	128.0	123.0	124.0		60316,60115,79231,59740	3.0	0.4	2		124	1,8267		0,1,4133	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,6027	TT,TC,CC		0.0121,0.0527,0.0249	benign,benign,benign,benign	20106/27119,20039/27052,26411/33424,19914/26927	179423251	3,12057	1896	4134	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423251C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82012G>A	2.37:g.179423251C>T	ENSP00000465570:p.Val27338Ile					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.V28979I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		327	87159	-			27338			Fibronectin type-III 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86935G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476783	0.26511	5.27E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.76	2.97	0.34412	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35422	0.0931	N	0.11560	0.145	0.28859	N	0.895597	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.28332	-1.0047	9	0.87932	D	0	.	5.8362	0.18609	0.0:0.5185:0.1253:0.3562	.	19914;20039;20106;27338	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26411;19914;20106;20039;19911	ENSP00000343764:V26411I;ENSP00000434586:V19914I;ENSP00000340554:V20106I;ENSP00000352154:V20039I	ENSP00000340554:V20106I	V	-	1	0	TTN	179131497	0.146000	0.22672	0.395000	0.26283	0.920000	0.55202	0.712000	0.25779	0.432000	0.26286	0.655000	0.94253	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	44	0	0	0	1	0	25	44				
USP15	9958	broad.mit.edu	37	12	62777762	62777762	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62777762G>A	ENST00000280377.5	+	10	1289	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	USP15_ENST00000353364.3_Missense_Mutation_p.D382N|USP15_ENST00000393654.3_Missense_Mutation_p.D386N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAAGATGCAGATGGAAGGCC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1231-1233)Gat>Aat		ubiquitin specific peptidase 15							80.0	82.0	81.0					12																	62777762		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777762G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1231G>A	12.37:g.62777762G>A	ENSP00000280377:p.Asp411Asn					USP15_ENST00000393654.3_Missense_Mutation_p.D386N|USP15_ENST00000353364.3_Missense_Mutation_p.D382N	p.D411N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1289	+			411					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1231G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873143	0.17322	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30182	4.15;4.15;1.54	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053826	0.64402	D	0.000001	T	0.28034	0.0691	L	0.37630	1.12	0.58432	D	0.999998	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.04281	-1.0963	9	.	.	.	-21.1592	19.3716	0.94490	0.0:0.0:1.0:0.0	.	411;382	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	N	382;411;386	ENSP00000258123:D382N;ENSP00000280377:D411N;ENSP00000377264:D386N	.	D	+	1	0	USP15	61064029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.805000	0.96524	0.655000	0.94253	GAT		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		19	383	0	0	0	1	0	19	383				
KIF4B	285643	broad.mit.edu	37	5	154397004	154397004	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:154397004G>A	ENST00000435029.4	+	1	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCCAGAGTCGAAACATGGAG	0.507																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3583-3585)tcG>tcA		kinesin family member 4B							53.0	58.0	57.0					5																	154397004		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154397004G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3585G>A	5.37:g.154397004G>A							p.S1195S	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3745	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1195			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3585G>A	CCDS47324.1																																																																																				0.507	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			19	53	0	0	0	1	0	19	53				
FLNA	2316	broad.mit.edu	37	X	153599591	153599591	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:153599591G>A	ENST00000369850.3	-	2	259	c.23C>T	c.(22-24)gCg>gTg	p.A8V	FLNA_ENST00000360319.4_Missense_Mutation_p.A8V|FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000422373.1_Missense_Mutation_p.A8V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	8	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCTGGCCCGCCCGAGAGTG	0.721																																						ENST00000422373.1																			0				breast(6)	6						c.(22-24)gCg>gTg		filamin A, alpha							6.0	7.0	6.0					X																	153599591		1796	3834	5630	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599591G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.23C>T	X.37:g.153599591G>A	ENSP00000358866:p.Ala8Val					FLNA_ENST00000360319.4_Missense_Mutation_p.A8V|FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000369850.3_Missense_Mutation_p.A8V	p.A8V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			2	271	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		8			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.23C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245118	0.22796	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.62	1.57	0.23409	.	1.250780	0.05743	N	0.601657	T	0.69949	0.3168	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54173	-0.8333	9	.	.	.	.	2.178	0.03867	0.1837:0.3507:0.3306:0.135	.	8;8	P21333-2;P21333	.;FLNA_HUMAN	V	8	ENSP00000353467:A8V;ENSP00000416926:A8V;ENSP00000358866:A8V;ENSP00000358863:A8V	.	A	-	2	0	FLNA	153252785	0.003000	0.15002	0.033000	0.17914	0.547000	0.35210	1.561000	0.36342	0.335000	0.23614	-0.351000	0.07748	GCG		0.721	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	11	0	0	0	1	0	3	11				
TMEM252	169693	broad.mit.edu	37	9	71155541	71155541	+	Missense_Mutation	SNP	G	G	A	rs533109920		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:71155541G>A	ENST00000377311.3	-	1	242	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	64						integral component of membrane (GO:0016021)											GTCACCTGGCGATAGTTGCTC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19413	0.0		0.0	False		,,,				2504	0.001					ENST00000377311.3																			0											c.(190-192)Cgc>Tgc		transmembrane protein 252							73.0	64.0	67.0					9																	71155541		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71155541G>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.190C>T	9.37:g.71155541G>A	ENSP00000366528:p.Arg64Cys						p.R64C	NM_153237.1	NP_694969.1					1	242	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.190C>T	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307233	0.60305	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	-0.427	0.12310	.	0.602886	0.16955	N	0.192705	T	0.47563	0.1452	M	0.62723	1.935	0.41378	D	0.987533	B	0.21381	0.055	B	0.14578	0.011	T	0.33929	-0.9849	9	0.87932	D	0	-0.0659	4.9425	0.13973	0.2579:0.0:0.516:0.2261	.	64	Q8N6L7	CI071_HUMAN	C	64	.	ENSP00000366528:R64C	R	-	1	0	C9orf71	70345361	1.000000	0.71417	0.844000	0.33320	0.576000	0.36127	3.481000	0.53179	-0.344000	0.08338	-0.302000	0.09304	CGC		0.552	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		16	38	0	0	0	1	0	16	38				
ATP10B	23120	broad.mit.edu	37	5	160042950	160042950	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:160042950G>A	ENST00000327245.5	-	17	3394	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	850					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCATCTCCGGAAGTCCTCT	0.517																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2548-2550)Cgg>Tgg		ATPase, class V, type 10B							56.0	56.0	56.0					5																	160042950		1934	4126	6060	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160042950G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2548C>T	5.37:g.160042950G>A	ENSP00000313600:p.Arg850Trp					CTC-348L5.1_ENST00000523598.1_RNA	p.R850W	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	3394	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	850					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2548C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614123	0.66672	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.66460	-0.21;-0.21	5.64	2.68	0.31781	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.873574	0.09867	N	0.745380	T	0.71953	0.3401	M	0.72894	2.215	0.18873	N	0.999988	D;D	0.67145	0.983;0.996	P;P	0.51229	0.545;0.663	T	0.59375	-0.7466	9	.	.	.	.	9.6549	0.39919	0.0:0.131:0.4642:0.4048	.	458;850	Q2YDW8;O94823	.;AT10B_HUMAN	W	850;458	ENSP00000313600:R850W;ENSP00000431081:R458W	.	R	-	1	2	ATP10B	159975528	0.859000	0.29813	0.701000	0.30321	0.880000	0.50808	1.241000	0.32743	0.708000	0.31955	0.655000	0.94253	CGG		0.517	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		33	66	0	0	0	1	0	33	66				
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1			keratin 25									p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.A339V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gCg>gTg		keratin 25							138.0	140.0	139.0					17																	38906791		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906791G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1016C>T	17.37:g.38906791G>A	ENSP00000310573:p.Ala339Val						p.A339V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1076	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1016C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629144	0.67015	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.52	5.52	0.82312	Filament (1);	0.213774	0.33040	N	0.005356	D	0.86012	0.5831	L	0.45352	1.415	0.09310	N	1	P	0.43542	0.81	B	0.40444	0.329	T	0.82354	-0.0499	10	0.72032	D	0.01	.	15.7677	0.78141	0.0:0.0:0.8633:0.1367	.	339	Q7Z3Z0	K1C25_HUMAN	V	268;339	ENSP00000310573:A339V	ENSP00000310573:A339V	A	-	2	0	KRT25	36160317	0.243000	0.23878	0.929000	0.37066	0.713000	0.41058	3.072000	0.50049	2.566000	0.86566	0.655000	0.94253	GCG		0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		120	243	0	0	0	1	0	120	243				
TMTC1	83857	broad.mit.edu	37	12	29904597	29904597	+	Splice_Site	SNP	A	A	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:29904597A>C	ENST00000539277.1	-	5	997		c.e5+1		TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000256062.5_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ccagcccagtacctcatcatg	0.567																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.e5+1		transmembrane and tetratricopeptide repeat containing 1							117.0	102.0	107.0					12																	29904597		2203	4300	6503	SO:0001630	splice_region_variant	83857					integral to membrane	binding	g.chr12:29904597A>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.938+1T>G	12.37:g.29904597A>C						TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site		NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			5	1088	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)							D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Splice_Site	SNP	ENST00000539277.1	37		CCDS53772.1																																																																																				0.567	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	Intron	26	68	0	0	0	1	0	26	68				
HECTD2	143279	broad.mit.edu	37	10	93185044	93185044	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:93185044G>C	ENST00000298068.5	+	2	239	c.145G>C	c.(145-147)Gac>Cac	p.D49H	HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000446394.1_Missense_Mutation_p.D49H	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	49					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCAGGGTTTGGACAGAGGAGC	0.348																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(145-147)Gac>Cac		HECT domain containing E3 ubiquitin protein ligase 2							56.0	57.0	57.0					10																	93185044		2203	4299	6502	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93185044G>C	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.145G>C	10.37:g.93185044G>C	ENSP00000298068:p.Asp49His					HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D49H	p.D49H			Q5U5R9	HECD2_HUMAN			2	245	+			49					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.145G>C	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978677	0.74360	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.51817	1.11;0.69;1.12	5.38	5.38	0.77491	.	0.067156	0.56097	D	0.000024	T	0.64649	0.2617	L	0.50333	1.59	0.80722	D	1	P;P;D	0.89917	0.914;0.914;1.0	P;P;D	0.74023	0.674;0.674;0.982	T	0.65804	-0.6079	10	0.72032	D	0.01	.	18.2696	0.90064	0.0:0.0:1.0:0.0	.	49;49;49	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	H	49	ENSP00000401023:D49H;ENSP00000360746:D49H;ENSP00000298068:D49H	ENSP00000298068:D49H	D	+	1	0	HECTD2	93175024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.634000	0.74290	2.689000	0.91719	0.655000	0.94253	GAC		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			38	32	0	0	0	1	0	38	32				
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1043	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		701	96	0	0	0	1	0	701	96				
SYTL1	84958	broad.mit.edu	37	1	27675627	27675627	+	Silent	SNP	G	G	A	rs537719164		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:27675627G>A	ENST00000543823.1	+	5	978	c.516G>A	c.(514-516)gcG>gcA	p.A172A	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	172					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAGGCGTCCCAGGCCC	0.612																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(514-516)gcG>gcA		synaptotagmin-like 1							76.0	80.0	78.0					1																	27675627		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675627G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.516G>A	1.37:g.27675627G>A						SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A	p.A172A			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	978	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	172					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.516G>A	CCDS53286.1																																																																																				0.612	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		36	75	0	0	0	1	0	36	75				
TTN	7273	broad.mit.edu	37	2	179650418	179650418	+	Missense_Mutation	SNP	G	G	A	rs149155733		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179650418G>A	ENST00000591111.1	-	15	2646	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	TTN_ENST00000589042.1_Missense_Mutation_p.R808C|TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C			Q8WZ42	TITIN_HUMAN	titin	33639					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCGGGGGCGTTTATCCACA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20895	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2422-2424)Cgc>Tgc		titin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	215.0	205.0	209.0		2284,2422,2422,2284,2284	5.5	1.0	2	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	762/26927,808/33424,808/5605,762/27052,762/27119	179650418	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650418G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2422C>T	2.37:g.179650418G>A	ENSP00000465570:p.Arg808Cys					TTN_ENST00000591111.1_Missense_Mutation_p.R808C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C	p.R808C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2646	-			808					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2422C>T		.	.	.	.	.	.	.	.	.	.	G	14.07	2.424596	0.43020	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;0.14;0.13;0.12;0.22	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.70587	0.3241	L	0.27053	0.805	0.36734	D	0.881862	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	P;P;P;P;D	0.69824	0.732;0.732;0.732;0.732;0.966	T	0.76605	-0.2898	9	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	762;762;762;808;808	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	808;762;762;762;762;808	ENSP00000343764:R808C;ENSP00000434586:R762C;ENSP00000340554:R762C;ENSP00000352154:R762C;ENSP00000354117:R808C	ENSP00000340554:R762C	R	-	1	0	TTN	179358663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.538000	0.53597	2.738000	0.93877	0.655000	0.94253	CGC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	117	0	0	0	1	0	50	117				
WDHD1	11169	broad.mit.edu	37	14	55429521	55429521	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:55429521A>G	ENST00000360586.3	-	20	2647	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A|WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	861					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATCTTCTTCAACTTGATTTCT	0.368																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2581-2583)gTt>gCt		WD repeat and HMG-box DNA binding protein 1							258.0	255.0	256.0					14																	55429521		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429521A>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2582T>C	14.37:g.55429521A>G	ENSP00000353793:p.Val861Ala					WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A|WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A	p.V861A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			20	2647	-			861					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2582T>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110412	0.20714	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61980	0.44;0.92;0.06	5.25	1.39	0.22231	.	1.437660	0.04177	N	0.325909	T	0.50803	0.1637	L	0.56769	1.78	0.27988	N	0.935794	B;B	0.27450	0.141;0.179	B;B	0.24006	0.05;0.036	T	0.18429	-1.0337	10	0.08837	T	0.75	.	1.3895	0.02247	0.5358:0.1147:0.1578:0.1917	.	379;861	F8W7P7;O75717	.;WDHD1_HUMAN	A	861;379;738	ENSP00000353793:V861A;ENSP00000352085:V379A;ENSP00000391049:V738A	ENSP00000352085:V379A	V	-	2	0	WDHD1	54499271	0.804000	0.28969	0.997000	0.53966	0.890000	0.51754	0.747000	0.26290	0.334000	0.23590	0.374000	0.22700	GTT		0.368	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		111	258	0	0	0	1	0	111	258				
HSD17B11	51170	broad.mit.edu	37	4	88312103	88312103	+	Silent	SNP	C	C	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:88312103C>A	ENST00000358290.4	-	1	435	c.120G>T	c.(118-120)ctG>ctT	p.L40L	HSD17B11_ENST00000507286.1_Silent_p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	40					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTGTAATCAGCACGATTT	0.453																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(118-120)ctG>ctT		hydroxysteroid (17-beta) dehydrogenase 11							103.0	106.0	105.0					4																	88312103		2203	4300	6503	SO:0001819	synonymous_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88312103C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.120G>T	4.37:g.88312103C>A						HSD17B11_ENST00000507286.1_Silent_p.L40L	p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	1	435	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	40					Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	c.120G>T	CCDS3619.1																																																																																				0.453	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		54	116	1	0	6.4308e-24	1	6.49447e-24	54	116				
OR14I1	401994	broad.mit.edu	37	1	248845349	248845349	+	Missense_Mutation	SNP	C	C	T	rs139712934		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:248845349C>T	ENST00000342623.3	-	1	280	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGAGCTTCTGCGAGTCAGGGA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		22210	0.0		0.0	False		,,,				2504	0.001					ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(256-258)cGc>cAc		olfactory receptor, family 14, subfamily I, member 1		C	HIS/ARG	0,4406		0,0,2203	112.0	97.0	102.0		257	-2.1	0.0	1	dbSNP_134	102	2,8598		0,2,4298	no	missense	OR14I1	NM_001004734.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	86/312	248845349	2,13004	2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845349C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.257G>A	1.37:g.248845349C>T	ENSP00000339726:p.Arg86His						p.R86H	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	280	-			86						Missense_Mutation	SNP	ENST00000342623.3	37	c.257G>A	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	1.587	-0.530131	0.04112	0.0	2.33E-4	ENSG00000189181	ENST00000342623	T	0.01347	4.99	3.48	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	0.655790	0.13134	N	0.411204	T	0.00608	0.0020	N	0.02985	-0.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45323	-0.9269	10	0.14252	T	0.57	.	5.0013	0.14266	0.0:0.2181:0.1558:0.6261	.	86	A6ND48	O14I1_HUMAN	H	86	ENSP00000339726:R86H	ENSP00000339726:R86H	R	-	2	0	OR14I1	246911972	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.594000	0.05733	-0.719000	0.04942	-1.416000	0.01114	CGC		0.473	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		20	37	0	0	0	1	0	20	37				
RANBP3L	202151	broad.mit.edu	37	5	36301465	36301465	+	Silent	SNP	G	G	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:36301465G>T	ENST00000296604.3	-	1	539	c.54C>A	c.(52-54)acC>acA	p.T18T	RANBP3L_ENST00000515759.1_Silent_p.T18T|RANBP3L_ENST00000502994.1_Silent_p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	18					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCAGTTTACAGGTGTGCAAAC	0.527																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(52-54)acC>acA		RAN binding protein 3-like							165.0	153.0	157.0					5																	36301465		2203	4300	6503	SO:0001819	synonymous_variant	202151				intracellular transport			g.chr5:36301465G>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.54C>A	5.37:g.36301465G>T						RANBP3L_ENST00000502994.1_Silent_p.T18T|RANBP3L_ENST00000515759.1_Silent_p.T18T	p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		1	539	-	all_lung(31;4.52e-05)		18					B7Z866|E9PGP9|Q96LK2	Silent	SNP	ENST00000296604.3	37	c.54C>A	CCDS3918.1																																																																																				0.527	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		59	120	1	0	3.00467e-41	1	3.06476e-41	59	120				
RPS3	6188	broad.mit.edu	37	11	75113439	75113439	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:75113439C>G	ENST00000531188.1	+	4	361	c.299C>G	c.(298-300)gCc>gGc	p.A100G	RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000527446.1_Missense_Mutation_p.A100G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	100					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGTGCCATTGCCCAGGCAGAG	0.458																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(298-300)gCc>gGc		ribosomal protein S3							115.0	110.0	112.0					11																	75113439		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75113439C>G		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.299C>G	11.37:g.75113439C>G	ENSP00000434643:p.Ala100Gly					RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Missense_Mutation_p.A100G	p.A100G	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			4	361	+			100					B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.299C>G	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961457|3.961457	0.74016|0.74016	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851|ENST00000527273	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	K Homology (1);K Homology, prokaryotic type (1);Ribosomal protein S3, C-terminal (2);K Homology, type 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84777|0.84777	0.5547|0.5547	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.12837|.	0.008|.	D|D	0.88028|0.88028	0.2773|0.2773	9|6	0.87932|0.87932	D|D	0|0	-12.6631|-12.6631	16.156|16.156	0.81666|0.81666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100|.	P23396|.	RS3_HUMAN|.	G|W	100;100;100;116;100;88;100|81	.|.	ENSP00000278572:A116G|ENSP00000435457:C81W	A|C	+|+	2|3	0|2	RPS3|RPS3	74791087|74791087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	7.651000|7.651000	0.83577|0.83577	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.458	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		65	134	0	0	0	1	0	65	134				
SEC16B	89866	broad.mit.edu	37	1	177930832	177930832	+	Missense_Mutation	SNP	C	C	T	rs201675705		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:177930832C>T	ENST00000308284.6	-	6	769	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	227					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R227H(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGACTCACGCTGCTGGAG	0.512																																						ENST00000308284.6																			1	Substitution - Missense(1)	p.R227H(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(679-681)cGt>cAt		SEC16 homolog B (S. cerevisiae)		C	HIS/ARG	1,3941		0,1,1970	45.0	48.0	47.0		680	3.5	0.9	1		47	0,8312		0,0,4156	yes	missense	SEC16B	NM_033127.2	29	0,1,6126	TT,TC,CC		0.0,0.0254,0.0082	benign	227/1061	177930832	1,12253	1971	4156	6127	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930832C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.680G>A	1.37:g.177930832C>T	ENSP00000308339:p.Arg227His					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.R227H|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R227H	p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			6	769	-			227					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.680G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299289	0.23650	2.54E-4	0.0	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.43294	2.52;0.95	5.79	3.45	0.39498	.	0.749959	0.13082	N	0.415239	T	0.13457	0.0326	N	0.00729	-1.24	0.37253	D	0.906643	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.10567	-1.0624	10	0.16420	T	0.52	-7.2985	8.5022	0.33165	0.0:0.1581:0.0:0.8419	.	227;227;227	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	H	227	ENSP00000308339:R227H;ENSP00000431727:R227H	ENSP00000308339:R227H	R	-	2	0	AL359075.1	176197455	0.977000	0.34250	0.940000	0.37924	0.370000	0.29829	1.894000	0.39768	0.441000	0.26529	-0.312000	0.09012	CGT		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		20	32	0	0	0	1	0	20	32				
AHNAK2	113146	broad.mit.edu	37	14	105413442	105413442	+	Silent	SNP	G	G	A	rs374954299		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:105413442G>A	ENST00000333244.5	-	7	8465	c.8346C>T	c.(8344-8346)gaC>gaT	p.D2782D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2782						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTGGACGTCCACCTCCA	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8344-8346)gaC>gaT		AHNAK nucleoprotein 2		A		0,3744		0,0,1872	133.0	147.0	142.0		8346	0.3	0.0	14		142	1,8165		0,1,4082	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,5954	AA,AG,GG		0.0122,0.0,0.0084		2782/5796	105413442	1,11909	1872	4083	5955	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413442G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8346C>T	14.37:g.105413442G>A						AHNAK2_ENST00000557457.1_Intron	p.D2782D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8465	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2782					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8346C>T	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		158	338	0	0	0	1	0	158	338				
SLC35F3	148641	broad.mit.edu	37	1	234367197	234367197	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:234367197G>A	ENST00000366617.3	+	2	339	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SLC35F3_ENST00000366618.3_Silent_p.A106A			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(316-318)gcG>gcA		solute carrier family 35, member F3							11.0	15.0	13.0					1																	234367197		2146	4169	6315	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234367197G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.111G>A	1.37:g.234367197G>A						SLC35F3_ENST00000366617.3_Silent_p.A37A	p.A106A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	463	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	37					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.318G>A																																																																																					0.736	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		24	30	0	0	0	1	0	24	30				
FAM220A	84792	broad.mit.edu	37	7	6370435	6370435	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:6370435C>T	ENST00000313324.4	-	2	818	c.351G>A	c.(349-351)gtG>gtA	p.V117V	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	117						nucleus (GO:0005634)											CACTGCAGGACACCCGAGCAA	0.597																																						ENST00000313324.4																			0											c.(349-351)gtG>gtA		family with sequence similarity 220, member A							46.0	47.0	47.0					7																	6370435		2203	4300	6503	SO:0001819	synonymous_variant	84792					nucleus		g.chr7:6370435C>T	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.351G>A	7.37:g.6370435C>T							p.V117V	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	818	-			117					Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	ENST00000313324.4	37	c.351G>A	CCDS34599.1																																																																																				0.597	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		27	96	0	0	0	1	0	27	96				
PRG4	10216	broad.mit.edu	37	1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	rs201785504		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		14970	0.001		0.0	False		,,,				2504	0.0					ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3652-3654)cGt>cAt		proteoglycan 4							80.0	93.0	89.0					1																	186280588		2202	4300	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280588G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3653G>A	1.37:g.186280588G>A	ENSP00000399679:p.Arg1218His					PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H	p.R1218H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			10	3698	+			1218			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3653G>A	CCDS1369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.78	2.933386	0.52866	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.41823	D	0.000806	T	0.36331	0.0963	H	0.97131	3.945	0.47123	D	0.999329	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.58896	-0.7555	10	0.87932	D	0	-7.0976	18.551	0.91065	0.0:0.0:1.0:0.0	.	1084;1125;1218;1177	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1175;747;1177;1125;1218	ENSP00000356456:R1175H;ENSP00000356454:R747H;ENSP00000356453:R1177H;ENSP00000356455:R1125H;ENSP00000399679:R1218H	ENSP00000356453:R1177H	R	+	2	0	PRG4	184547211	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.083000	0.94067	2.453000	0.82957	0.585000	0.79938	CGT		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		69	171	0	0	0	1	0	69	171				
STAG3L4	64940	broad.mit.edu	37	7	66785180	66785180	+	RNA	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:66785180G>A	ENST00000416602.2	+	0	810					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AAACAATACAGCTATCCAAGG	0.368																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															56.0	40.0	45.0					7																	66785180		692	1591	2283			0							g.chr7:66785180G>A			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66785180G>A								NR_040586.1		Q8TBR4	STG34_HUMAN			0	810	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37																																																																																						0.368	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		4	85	0	0	0	1	0	4	85				
SORCS1	114815	broad.mit.edu	37	10	108357142	108357142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:108357142G>A	ENST00000263054.6	-	24	3239	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*|SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1078					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R1078*(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACAAGGACTCGGACTCCTGGC	0.507																																						ENST00000263054.6																			3	Substitution - Nonsense(3)	p.R1078*(3)	prostate(3)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3232-3234)Cga>Tga		sortilin-related VPS10 domain containing receptor 1							154.0	138.0	144.0					10																	108357142		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108357142G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3232C>T	10.37:g.108357142G>A	ENSP00000263054:p.Arg1078*					SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*	p.R1078*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	24	3239	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1078					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.3232C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	40	8.236257	0.98719	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.71	5.71	0.89125	.	0.412228	0.25402	N	0.030938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5528	15.1136	0.72380	0.0:0.0:0.8578:0.1422	.	.	.	.	X	613;1078;1078	.	.	R	-	1	2	SORCS1	108347132	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	4.394000	0.59671	2.697000	0.92050	0.655000	0.94253	CGA		0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	24	0	0	0	1	0	9	24				
ADAMTS20	80070	broad.mit.edu	37	12	43884232	43884232	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:43884232G>A	ENST00000389420.3	-	7	1082	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADAMTS20_ENST00000553158.1_Silent_p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGAACAAATGTCTTCCCTTA	0.229																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1081-1083)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							17.0	19.0	19.0					12																	43884232		2132	4199	6331	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43884232G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1083C>T	12.37:g.43884232G>A						ADAMTS20_ENST00000553158.1_Silent_p.D361D	p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	7	1082	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	361			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1083C>T	CCDS31778.2																																																																																				0.229	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	16	0	0	0	1	0	5	16				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	169	0	0	0	1	0	5	169				
DPY19L2P2	349152	broad.mit.edu	37	7	102883490	102883490	+	RNA	SNP	A	A	C			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:102883490A>C	ENST00000312132.4	-	0	2619							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CCAGTTCAGTACCACTGTAAA	0.303																																						ENST00000312132.4																			0																																																			0							g.chr7:102883490A>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883490A>C														0	2619	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.303	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	36	0	0	0	1	0	3	36				
SLC6A16	28968	broad.mit.edu	37	19	49793874	49793874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:49793874C>T	ENST00000335875.4	-	11	2170	c.1929G>A	c.(1927-1929)tgG>tgA	p.W643*	SLC6A16_ENST00000454748.3_Nonsense_Mutation_p.W643*	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	643					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGCTTGAGTCCCAGGACATGT	0.522																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1927-1929)tgG>tgA		solute carrier family 6, member 16							42.0	40.0	40.0					19																	49793874		1931	4130	6061	SO:0001587	stop_gained	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793874C>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1929G>A	19.37:g.49793874C>T	ENSP00000338627:p.Trp643*					SLC6A16_ENST00000335875.4_Nonsense_Mutation_p.W643*	p.W643*			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	11	2130	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	643					Q8IYV4|Q9Y5I9	Nonsense_Mutation	SNP	ENST00000335875.4	37	c.1929G>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989911	0.93106	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4914	0.67654	0.0:1.0:0.0:0.0	.	.	.	.	X	643	.	ENSP00000338627:W643X	W	-	3	0	SLC6A16	54485686	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	3.108000	0.50337	2.697000	0.92050	0.609000	0.83330	TGG		0.522	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		15	30	0	0	0	1	0	15	30				
SLC7A5	8140	broad.mit.edu	37	16	87871512	87871512	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr16:87871512G>A	ENST00000261622.4	-	7	1144	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	360					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GAGGATGGAGGGCAGGTGGCC	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1078-1080)cCc>cTc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							122.0	98.0	106.0					16																	87871512		2197	4299	6496	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87871512G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1079C>T	16.37:g.87871512G>A	ENSP00000261622:p.Pro360Leu					SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	p.P360L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	7	1144	-			360					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1079C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353671	0.82243	.	.	ENSG00000103257	ENST00000261622	D	0.94966	-3.57	4.58	4.58	0.56647	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97725	1.0199	10	0.56958	D	0.05	.	16.4277	0.83824	0.0:0.0:1.0:0.0	.	360	Q01650	LAT1_HUMAN	L	360	ENSP00000261622:P360L	ENSP00000261622:P360L	P	-	2	0	SLC7A5	86429013	1.000000	0.71417	0.923000	0.36655	0.467000	0.32768	9.495000	0.97964	2.101000	0.63845	0.456000	0.33151	CCC		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		4	5	0	0	0	1	0	4	5				
PLCXD3	345557	broad.mit.edu	37	5	41382519	41382519	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:41382519C>T	ENST00000377801.3	-	2	295	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	74	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAACCATTTCCGCATGAGCTT	0.468																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(220-222)cGg>cAg		phosphatidylinositol-specific phospholipase C, X domain containing 3							58.0	64.0	62.0					5																	41382519		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382519C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.221G>A	5.37:g.41382519C>T	ENSP00000367032:p.Arg74Gln					PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q	p.R74Q			Q63HM9	PLCX3_HUMAN			2	295	-			74			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.221G>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360065	0.82353	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.043894	0.85682	D	0.000000	T	0.72542	0.3473	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.64149	-0.6475	9	0.21540	T	0.41	-13.5761	20.6593	0.99626	0.0:1.0:0.0:0.0	.	74	Q63HM9	PLCX3_HUMAN	Q	74	.	ENSP00000333751:R74Q	R	-	2	0	PLCXD3	41418276	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.661000	0.61518	2.885000	0.99019	0.655000	0.94253	CGG		0.468	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		45	92	0	0	0	1	0	45	92				
SCN2A	6326	broad.mit.edu	37	2	166246283	166246283	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:166246283C>T	ENST00000375437.2	+	27	6257	c.5967C>T	c.(5965-5967)gaC>gaT	p.D1989D	SCN2A_ENST00000283256.6_Silent_p.D1989D|SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000357398.3_Silent_p.D1989D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1989					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGAAAAAGACAAATCAGAAA	0.373																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5965-5967)gaC>gaT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						29.0	31.0	30.0					2																	166246283		2200	4299	6499	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246283C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5967C>T	2.37:g.166246283C>T						SCN2A_ENST00000375437.2_Silent_p.D1989D|SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000283256.6_Silent_p.D1989D	p.D1989D			Q99250	SCN2A_HUMAN			27	6257	+			1989					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5967C>T	CCDS33314.1																																																																																				0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		32	59	0	0	0	1	0	32	59				
APOA4	337	broad.mit.edu	37	11	116691769	116691769	+	Silent	SNP	G	G	A	rs545034382		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:116691769G>A	ENST00000357780.3	-	3	1119	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	335					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGCCTTCCACGTCCCCCGCAT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20071	0.001		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1003-1005)gaC>gaT		apolipoprotein A-IV							74.0	68.0	70.0					11																	116691769		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116691769G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.1005C>T	11.37:g.116691769G>A							p.D335D	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1119	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.1005C>T	CCDS31681.1																																																																																				0.577	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		54	91	0	0	0	1	0	54	91				
KCNC2	3747	broad.mit.edu	37	12	75601452	75601452	+	Silent	SNP	G	G	A			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:75601452G>A	ENST00000549446.1	-	2	992	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	104					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTGCCGGTCGAAGAAGAACT	0.716																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(310-312)ttC>ttT		potassium voltage-gated channel, Shaw-related subfamily, member 2							13.0	16.0	15.0					12																	75601452		2200	4294	6494	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601452G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.312C>T	12.37:g.75601452G>A						KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F	p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	992	-			104					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.312C>T	CCDS9007.1																																																																																				0.716	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		10	20	0	0	0	1	0	10	20				
HORMAD1	84072	broad.mit.edu	37	1	150676784	150676784	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:150676784C>T	ENST00000361824.2	-	11	945	c.840G>A	c.(838-840)caG>caA	p.Q280Q	HORMAD1_ENST00000368995.4_Silent_p.Q200Q|HORMAD1_ENST00000368993.2_Silent_p.Q280Q|HORMAD1_ENST00000322343.7_Silent_p.Q273Q|RNU6-1042P_ENST00000384204.1_RNA	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	280					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTTTTTTCCTGTTCTTCCA	0.308																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(838-840)caG>caA		HORMA domain containing 1							64.0	54.0	58.0					1																	150676784		2202	4297	6499	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150676784C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.840G>A	1.37:g.150676784C>T						HORMAD1_ENST00000322343.7_Silent_p.Q273Q|HORMAD1_ENST00000361824.2_Silent_p.Q280Q|HORMAD1_ENST00000368995.4_Silent_p.Q200Q	p.Q280Q			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		11	945	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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)		280					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.840G>A	CCDS967.1																																																																																				0.308	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		27	71	0	0	0	1	0	27	71				
EGFR	1956	broad.mit.edu	37	7	55273104	55273104	+	Nonsense_Mutation	SNP	C	C	T	rs145189325		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55273104C>T	ENST00000275493.2	+	28	3604	c.3427C>T	c.(3427-3429)Cag>Tag	p.Q1143*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1143					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACACTGTCCAGCCCACCTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(3427-3429)Cag>Tag		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						110.0	88.0	95.0					7																	55273104		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55273104C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3427C>T	7.37:g.55273104C>T	ENSP00000275493:p.Gln1143*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*|EGFR_ENST00000442591.1_Intron	p.Q1143*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		28	3604	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		1143					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.3427C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876575	0.97055	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.34	3.53	0.40419	.	0.638593	0.17992	N	0.155189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	9.9931	0.41883	0.0:0.7848:0.1392:0.0761	.	.	.	.	X	1013;1143;1090	.	ENSP00000275493:Q1143X	Q	+	1	0	EGFR	55240598	0.196000	0.23350	0.001000	0.08648	0.002000	0.02628	2.839000	0.48207	0.744000	0.32741	0.558000	0.71614	CAG		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		741	119	0	0	0	1	0	741	119				
GRM4	2914	broad.mit.edu	37	6	34029770	34029770	+	Missense_Mutation	SNP	G	G	A	rs572550212		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:34029770G>A	ENST00000538487.2	-	4	1215	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000544773.2_Missense_Mutation_p.R89W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000609222.1_Missense_Mutation_p.R125W|GRM4_ENST00000374181.4_Missense_Mutation_p.R258W|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	258					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGGGCTCCCGTGGTATCTTC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20889	0.0		0.0	False		,,,				2504	0.001					ENST00000545715.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48								glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						109.0	95.0	100.0					6																	34029770		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34029770G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.772C>T	6.37:g.34029770G>A	ENSP00000440556:p.Arg258Trp					GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000374181.3_Missense_Mutation_p.R258W|GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000538487.1_Missense_Mutation_p.R258W|GRM4_ENST00000544773.1_Missense_Mutation_p.R89W				Q14833	GRM4_HUMAN			0	325	-								B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Translation_Start_Site	SNP	ENST00000538487.2	37		CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253244	0.80135	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	4.01	3.05	0.35203	Extracellular ligand-binding receptor (1);	0.072735	0.51477	D	0.000092	D	0.90714	0.7086	M	0.90977	3.165	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.995;0.998;1.0;1.0;0.998	P;D;D;D;D	0.76071	0.848;0.932;0.971;0.987;0.932	D	0.91513	0.5228	10	0.56958	D	0.05	.	13.1764	0.59629	0.0:0.0:0.8401:0.1599	.	258;89;118;258;125	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	W	258;189;125;89;258;118	ENSP00000363296:R258W;ENSP00000363292:R189W;ENSP00000437925:R125W;ENSP00000437730:R89W;ENSP00000440556:R258W;ENSP00000398456:R118W	ENSP00000363292:R189W	R	-	1	2	GRM4	34137748	1.000000	0.71417	0.927000	0.36925	0.841000	0.47740	3.104000	0.50306	2.219000	0.72066	0.530000	0.56133	CGG		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			43	84	0	0	0	1	0	43	84				
MARS	4141	broad.mit.edu	37	12	57894183	57894183	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:57894183C>T	ENST00000262027.5	+	10	1305	c.1171C>T	c.(1171-1173)Cac>Tac	p.H391Y	MARS_ENST00000315473.5_Missense_Mutation_p.H157Y|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	391					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCGATGTGAGCACTGTGCTCG	0.567																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1171-1173)Cac>Tac		methionyl-tRNA synthetase	L-Methionine(DB00134)						247.0	198.0	214.0					12																	57894183		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57894183C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1171C>T	12.37:g.57894183C>T	ENSP00000262027:p.His391Tyr					MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.H157Y	p.H391Y	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		10	1305	+			391					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1171C>T	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106392	0.37145	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000548944	T;T	0.43294	1.55;0.95	5.35	3.47	0.39725	Aminoacyl-tRNA synthetase, class I (M) (1);	0.831499	0.11302	N	0.578100	T	0.37972	0.1023	L	0.31294	0.92	0.19300	N	0.999974	B;B;B	0.24368	0.009;0.102;0.0	B;B;B	0.33121	0.003;0.158;0.016	T	0.43065	-0.9414	10	0.72032	D	0.01	3.8689	12.8021	0.57593	0.5469:0.4531:0.0:0.0	.	157;264;391	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	Y	391;157;15	ENSP00000262027:H391Y;ENSP00000314653:H157Y	ENSP00000262027:H391Y	H	+	1	0	MARS	56180450	0.004000	0.15560	0.419000	0.26584	0.965000	0.64279	0.263000	0.18478	0.694000	0.31654	0.563000	0.77884	CAC		0.567	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		69	1005	0	0	0	1	0	69	1005				
TRGV3	6976	broad.mit.edu	37	7	38398650	38398650	+	RNA	SNP	A	A	C	rs76431362		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:38398650A>C	ENST00000390346.2	-	0	113							P03979	TVC_HUMAN	T cell receptor gamma variable 3						immune response (GO:0006955)	plasma membrane (GO:0005886)	MHC protein binding (GO:0042287)|peptide antigen binding (GO:0042605)										CTTAAAACTCAGGCCCCACTC	0.527																																						ENST00000390346.2																			0																				22.0	29.0	27.0					7																	38398650		691	1590	2281			0							g.chr7:38398650A>C	M13430		7p14	2012-02-07			ENSG00000211699	ENSG00000211699		"""T cell receptors / TRG locus"""	12288	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V3"""			TCRGV3		2938743, 2969332	Standard	NG_001336		Approved	V1S3	uc003tgr.2	P03979	OTTHUMG00000155102		7.37:g.38398650A>C														0	113	-									RNA	SNP	ENST00000390346.2	37																																																																																						0.527	TRGV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338416.3	NG_001336		5	44	0	0	0	1	0	5	44				
SEPT14	346288	broad.mit.edu	37	7	55902220	55902220	+	Silent	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348																																						ENST00000388975.3																			1	Substitution - coding silent(1)	p.T206T(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(616-618)acG>acA		septin 14							106.0	98.0	101.0					7																	55902220		2203	4300	6503	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55902220C>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.618G>A	7.37:g.55902220C>T							p.T206T	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	734	-	Breast(14;0.214)		206					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.618G>A	CCDS5519.2																																																																																				0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		19	68	0	0	0	1	0	19	68				
ZNF41	7592	broad.mit.edu	37	X	47308233	47308233	+	Silent	SNP	G	G	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:47308233G>T	ENST00000377065.4	-	5	1575	c.936C>A	c.(934-936)ccC>ccA	p.P312P	ZNF41_ENST00000397050.2_Silent_p.P322P|ZNF41_ENST00000313116.7_Silent_p.P312P|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	354					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(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CATCAACCTGGGGTTTCTGGG	0.423																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(934-936)ccC>ccA		zinc finger protein 41							74.0	71.0	72.0					X																	47308233		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308233G>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.936C>A	X.37:g.47308233G>T						ZNF41_ENST00000313116.7_Silent_p.P312P|ZNF41_ENST00000397050.2_Silent_p.P322P	p.P312P	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1575	-		all_lung(315;0.000129)	354					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.936C>A	CCDS14279.1																																																																																				0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		109	187	1	0	2.12943e-44	1	2.19396e-44	109	187				
OR4F5	79501	broad.mit.edu	37	1	69557	69557	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:69557C>T	ENST00000335137.3	+	1	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGGCGTTTGCCGTGCACTTA	0.468																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(466-468)gCc>gTc		olfactory receptor, family 4, subfamily F, member 5							193.0	128.0	152.0					1																	69557		1758	3035	4793	SO:0001583	missense	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69557C>T	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.467C>T	1.37:g.69557C>T	ENSP00000334393:p.Ala156Val						p.A156V	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	467	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	156					Q5VT22	Missense_Mutation	SNP	ENST00000335137.3	37	c.467C>T	CCDS30547.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.681254	0.00745	.	.	ENSG00000186092	ENST00000534990;ENST00000335137	T	0.00107	8.72	2.31	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.153769	0.29676	N	0.011493	T	0.00109	0.0003	N	0.03891	-0.335	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.53892	-0.8374	10	0.02654	T	1	.	5.576	0.17222	0.0:0.8227:0.0:0.1773	.	156	Q8NH21	OR4F5_HUMAN	V	204;156	ENSP00000334393:A156V	ENSP00000334393:A156V	A	+	2	0	OR4F5	59420	0.000000	0.05858	1.000000	0.80357	0.462000	0.32619	-0.449000	0.06812	1.232000	0.43678	0.398000	0.26397	GCC		0.468	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		7	602	0	0	0	1	0	7	602				
HMCN1	83872	broad.mit.edu	37	1	186114580	186114580	+	Missense_Mutation	SNP	G	G	A	rs141397809		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186114580G>A	ENST00000271588.4	+	92	14541	c.14312G>A	c.(14311-14313)cGg>cAg	p.R4771Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4771	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACATGCAGCCGGACGTGTAAC	0.552																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14311-14313)cGg>cAg		hemicentin 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	84.0	86.0		14312	3.6	0.9	1	dbSNP_134	86	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4771/5636	186114580	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114580G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14312G>A	1.37:g.186114580G>A	ENSP00000271588:p.Arg4771Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14541	+			4771			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14312G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346819	0.82022	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52526	0.66;0.66	5.43	3.57	0.40892	.	0.163209	0.52532	N	0.000073	T	0.46054	0.1373	L	0.33189	0.99	0.42021	D	0.990988	D	0.57571	0.98	P	0.51999	0.687	T	0.35847	-0.9772	10	0.42905	T	0.14	.	11.8015	0.52130	0.1416:0.0:0.8584:0.0	.	4771	Q96RW7	HMCN1_HUMAN	Q	4771	ENSP00000271588:R4771Q;ENSP00000356462:R4771Q	ENSP00000271588:R4771Q	R	+	2	0	HMCN1	184381203	1.000000	0.71417	0.926000	0.36857	0.879000	0.50718	5.135000	0.64777	0.680000	0.31366	-0.133000	0.14855	CGG		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		42	56	0	0	0	1	0	42	56				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	38	0	0	0	1	0	3	38				
SLC2A1-AS1	440584	broad.mit.edu	37	1	43428494	43428496	+	lincRNA	DEL	GGT	GGT	-			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:43428494_43428496delGGT	ENST00000431759.1	+	0	529					NR_033967.1				SLC2A1 antisense RNA 1																		GTGGGGGAGGggtggtggtggtg	0.631																																						ENST00000431759.1																			0																																																			0							g.chr1:43428494_43428496delGGT	AK056786		1p34.2	2012-10-12	2012-08-15		ENSG00000227533	ENSG00000227533		"""Long non-coding RNAs"""	44187	non-coding RNA	RNA, long non-coding			"""SLC2A1 antisense RNA 1 (non-protein coding)"""				Standard	NR_033967		Approved		uc001cil.3		OTTHUMG00000007699		1.37:g.43428503_43428505delGGT								NR_033967.1						0	529	+									RNA	DEL	ENST00000431759.1	37																																																																																						0.631	SLC2A1-AS1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000020688.1	NR_033967		2	4						2	4	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053178	238053178	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:238053178A>G	ENST00000366570.4	-	3	547	c.389T>C	c.(388-390)aTg>aCg	p.M130T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	130					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAAGATCCATAGGACACTT	0.552																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(388-390)aTg>aCg		zona pellucida glycoprotein 4							224.0	227.0	226.0					1																	238053178		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053178A>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.389T>C	1.37:g.238053178A>G	ENSP00000355529:p.Met130Thr					RP11-193H5.1_ENST00000450451.1_RNA	p.M130T	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	547	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	130					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.389T>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	A	9.435	1.086530	0.20390	.	.	ENSG00000116996	ENST00000366570	T	0.73681	-0.77	4.89	1.28	0.21552	.	1.278960	0.05375	N	0.536090	T	0.66665	0.2812	L	0.57536	1.79	0.09310	N	1	B	0.20164	0.042	B	0.15484	0.013	T	0.41179	-0.9523	10	0.22109	T	0.4	-0.0453	3.6635	0.08247	0.6049:0.1935:0.2016:0.0	.	130	Q12836	ZP4_HUMAN	T	130	ENSP00000355529:M130T	ENSP00000355529:M130T	M	-	2	0	ZP4	236119801	0.000000	0.05858	0.006000	0.13384	0.187000	0.23431	0.105000	0.15333	0.212000	0.20703	0.533000	0.62120	ATG		0.552	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			123	243	0	0	0	1	0	123	243				
MROH5	389690	broad.mit.edu	37	8	142447066	142447066	+	RNA	DEL	G	G	-	rs537367942	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:142447066delG	ENST00000606664.1	+	0	2422				MROH5_ENST00000430863.1_RNA																							TGCACTGGGTGGGGGGGTGGG	0.736																																						ENST00000606664.1																			0																																																			0							g.chr8:142447066delG																													8.37:g.142447066delG						MROH5_ENST00000430863.1_RNA								0	2422	+									RNA	DEL	ENST00000606664.1	37																																																																																						0.736	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			2	4						2	4	---	---	---	---
PTGDR2	11251	broad.mit.edu	37	11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		5	9						5	9	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(979-981)ttfs		ribosomal protein S6 kinase, 70kDa, polypeptide 2							260.0	290.0	280.0					11																	67201678		2075	4199	6274	SO:0001589	frameshift_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201678delT	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.979delT	11.37:g.67201678delT	ENSP00000308413:p.Phe328fs					AP003419.16_ENST00000535922.1_RNA	p.F328fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1024	+			328			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Frame_Shift_Del	DEL	ENST00000312629.5	37	c.979delT	CCDS41677.1																																																																																				0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		8	789						8	789	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5096765	5096766	+	5'Flank	INS	-	-	A	rs373321272		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:5096765_5096766insA	ENST00000575779.1	-	0	0				RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						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)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ctcaaaaaaataaaaaaaaaaa	0.51																																						ENST00000571689.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:5096765_5096766insA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059		17.37:g.5096776_5096776dupA	Exception_encountered					RP11-333E1.1_ENST00000575601.1_RNA		NR_034082.1						0	60	+								Q6RFS0	RNA	INS	ENST00000575779.1	37		CCDS42241.1																																																																																				0.510	ZNF594-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255082.2	XM_290737		2	4						2	4	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			5	3						5	3	---	---	---	---
