#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
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	154	0	0	0	1	0	7	154				
PANX2	56666	broad.mit.edu	37	22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(211-213)aCc>aGc		pannexin 2							8.0	8.0	8.0					22																	50609371		2155	4240	6395	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50609371C>G		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.212C>G	22.37:g.50609371C>G	ENSP00000379183:p.Thr71Ser					PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	212	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	71					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.212C>G	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189774	0.38707	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.23950	1.88;1.88	3.46	3.46	0.39613	.	0.000000	0.64402	U	0.000001	T	0.39118	0.1066	L	0.40543	1.245	0.48901	D	0.999722	D;D	0.65815	0.994;0.995	P;D	0.66196	0.824;0.942	T	0.18999	-1.0319	10	0.42905	T	0.14	-8.128	14.9246	0.70866	0.0:1.0:0.0:0.0	.	71;71	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	S	71	ENSP00000159647:T71S;ENSP00000379183:T71S	ENSP00000159647:T71S	T	+	2	0	PANX2	48951498	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.289000	0.65656	1.474000	0.48178	0.305000	0.20034	ACC		0.731	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	10	0	0	0	1	0	3	10				
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	ENST00000280800.3	+	10	1419	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1387-1389)cGg>cTg		phospholipase B domain containing 2							70.0	76.0	74.0					12																	113824843		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824843G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1388G>T	12.37:g.113824843G>T	ENSP00000280800:p.Arg463Leu					PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	p.R463L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1419	+			463					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1388G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922840	0.52653	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18174	2.23;2.23	5.32	-5.4	0.02656	.	0.531595	0.20401	N	0.093055	T	0.21103	0.0508	M	0.91196	3.185	0.23720	N	0.997024	B;B	0.15141	0.012;0.004	B;B	0.22753	0.027;0.041	T	0.31166	-0.9953	10	0.45353	T	0.12	-16.1598	5.999	0.19509	0.5065:0.0:0.2865:0.207	.	431;463	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	431;463	ENSP00000443463:R431L;ENSP00000280800:R463L	ENSP00000280800:R463L	R	+	2	0	PLBD2	112309226	0.000000	0.05858	0.914000	0.36105	0.994000	0.84299	-0.606000	0.05654	-0.937000	0.03719	0.555000	0.69702	CGG		0.602	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	158	1	0	3.41278e-10	1	3.4797e-10	14	158				
TPTE2P2	644623	broad.mit.edu	37	13	52864030	52864030	+	RNA	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:52864030C>T	ENST00000451298.1	-	0	139																											GAATGATACTCCAAAGGAATA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864030C>T																													13.37:g.52864030C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	139	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			9	19	0	0	0	1	0	9	19				
HEBP1	50865	broad.mit.edu	37	12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	rs76698360		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0					ENST00000014930.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(538-540)Cgg>Tgg		heme binding protein 1		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	140.0	115.0	123.0		538	3.8	1.0	12	dbSNP_133	123	0,8600		0,0,4300	no	missense	HEBP1	NM_015987.4	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	180/190	13128274	2,13004	2203	4300	6503	SO:0001583	missense	50865				circadian rhythm	extracellular region		g.chr12:13128274G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.538C>T	12.37:g.13128274G>A	ENSP00000014930:p.Arg180Trp					RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA	p.R180W	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	696	-		Prostate(47;0.183)	180					A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	c.538C>T	CCDS31749.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.3	3.975341	0.74360	4.54E-4	0.0	ENSG00000013583	ENST00000014930	T	0.38240	1.15	4.76	3.8	0.43715	Regulatory factor, effector, bacterial (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66300	-0.5958	10	0.87932	D	0	-19.0835	10.2767	0.43515	0.0:0.0:0.6658:0.3342	.	180	Q9NRV9	HEBP1_HUMAN	W	180	ENSP00000014930:R180W	ENSP00000014930:R180W	R	-	1	2	HEBP1	13019541	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.245000	0.43133	2.625000	0.88918	0.655000	0.94253	CGG		0.587	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			35	119	0	0	0	1	0	35	119				
KL	9365	broad.mit.edu	37	13	33591133	33591133	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(553-555)gtG>gtC		klotho							6.0	7.0	7.0					13																	33591133		2022	4023	6045	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591133G>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.555G>C	13.37:g.33591133G>C						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.V185V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	563	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	185			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.555G>C	CCDS9347.1																																																																																				0.736	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			8	6	0	0	0	1	0	8	6				
IFNAR1	3454	broad.mit.edu	37	21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	ENST00000270139.3	+	3	400	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S|IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	83	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CAGAATATTACTAGTACCAAA	0.308																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(247-249)aCt>aGt		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						68.0	71.0	70.0					21																	34713352		2203	4298	6501	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34713352C>G		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.248C>G	21.37:g.34713352C>G	ENSP00000270139:p.Thr83Ser					IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S	p.T83S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			3	400	+			83					B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.248C>G	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385520	0.25031	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442071;ENST00000442357	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.49	2.71	0.32032	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.925487	0.09315	N	0.819081	T	0.70710	0.3255	M	0.64676	1.99	0.09310	N	1	B	0.22480	0.07	B	0.29524	0.103	T	0.56492	-0.7970	10	0.26408	T	0.33	-2.2387	7.7984	0.29160	0.0:0.7539:0.0:0.2461	.	83	P17181	INAR1_HUMAN	S	14;83;83;83	ENSP00000395606:T14S;ENSP00000270139:T83S;ENSP00000400161:T83S;ENSP00000407406:T83S	ENSP00000270139:T83S	T	+	2	0	IFNAR1	33635222	0.002000	0.14202	0.000000	0.03702	0.356000	0.29392	0.974000	0.29436	0.283000	0.22279	0.563000	0.77884	ACT		0.308	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			3	28	0	0	0	1	0	3	28				
TSC2	7249	broad.mit.edu	37	16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	rs137854136|rs137854196|rs45517394		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G|TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|MIR1225_ENST00000408729.1_RNA	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		A -> E (in TSC2). {ECO:0000269|PubMed:8824881}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM961390	TSC2	M	rs45517394	c.(5134-5136)gCc>gGc		tuberous sclerosis 2							92.0	86.0	88.0					16																	2138115		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2138115C>G	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5135C>G	16.37:g.2138115C>G	ENSP00000219476:p.Ala1712Gly					TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G	p.A1712G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			40	5765	+		Hepatocellular(780;0.0202)	1712		A -> E (in TSC2).	Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.5135C>G	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732189	0.30684	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.51	4.51	0.55191	Rap/ran-GAP (2);	0.144445	0.46145	D	0.000311	D	0.95535	0.8549	L	0.38175	1.15	0.51012	D	0.999904	B;B;B;B;B;B;D	0.69078	0.003;0.008;0.002;0.045;0.002;0.002;0.997	B;B;B;B;B;B;D	0.77004	0.014;0.006;0.008;0.049;0.008;0.008;0.989	D	0.96428	0.9317	10	0.72032	D	0.01	-18.0467	17.2455	0.87027	0.0:1.0:0.0:0.0	.	1597;1609;1689;487;1668;1645;1712	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	G	1712;1646;1669;1609;1597;1689	ENSP00000219476:A1712G;ENSP00000248099:A1669G;ENSP00000399232:A1609G;ENSP00000371978:A1597G;ENSP00000344383:A1689G	ENSP00000219476:A1712G	A	+	2	0	TSC2	2078116	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.668000	0.61568	2.065000	0.61736	0.313000	0.20887	GCC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		71	107	0	0	0	1	0	71	107				
GIGYF1	64599	broad.mit.edu	37	7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1723-1725)Gtc>Ctc		GRB10 interacting GYF protein 1							15.0	18.0	17.0					7																	100281867		2202	4296	6498	SO:0001583	missense	64599							g.chr7:100281867C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1723G>C	7.37:g.100281867C>G	ENSP00000275732:p.Val575Leu						p.V575L	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			14	2932	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		575			Gln-rich.		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1723G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	1.690	-0.504292	0.04261	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.81499	-1.5	4.52	3.55	0.40652	.	0.896444	0.09177	N	0.837980	T	0.47563	0.1452	N	0.00771	-1.2	0.31430	N	0.673232	B	0.12630	0.006	B	0.13407	0.009	T	0.55909	-0.8066	10	0.07175	T	0.84	-15.7173	5.3083	0.15815	0.0:0.7724:0.0:0.2276	.	575	O75420	PERQ1_HUMAN	L	294;575	ENSP00000275732:V575L	ENSP00000275732:V575L	V	-	1	0	GIGYF1	100119803	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	2.416000	0.44644	2.354000	0.79902	0.313000	0.20887	GTC		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		25	18	0	0	0	1	0	25	18				
MACF1	23499	broad.mit.edu	37	1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000372915.3	+	57	14581	c.14494G>C	c.(14494-14496)Gag>Cag	p.E4832Q	MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4827Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14479-14481)Gag>Cag		microtubule-actin crosslinking factor 1							125.0	142.0	136.0					1																	39852993		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852993G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14494G>C	1.37:g.39852993G>C	ENSP00000362006:p.Glu4832Gln					MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E4832Q	p.E4827Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15256	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4832					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14479G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.618566|1.618566	0.28801|0.28801	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.093565|.	0.46145|.	D|.	0.000308|.	T|T	0.69486|0.69486	0.3116|0.3116	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;P;B|.	0.76494|.	0.999;0.749;0.168|.	D;B;B|.	0.75020|.	0.985;0.406;0.137|.	T|T	0.62248|0.62248	-0.6894|-0.6894	10|5	0.39692|.	T|.	0.17|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4832;2765;2709|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|A	2765;4832;2765;2765;2744;3267|1877	ENSP00000439537:E2765Q;ENSP00000362006:E4832Q;ENSP00000354573:E2765Q;ENSP00000313438:E2765Q;ENSP00000444364:E2744Q;ENSP00000289893:E3267Q|.	ENSP00000289893:E3267Q|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39625580|39625580	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.244000|0.244000	0.25665|0.25665	9.609000|9.609000	0.98334|0.98334	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		88	175	0	0	0	1	0	88	175				
HECTD1	25831	broad.mit.edu	37	14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C	rs562158110		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	ENST00000399332.1	-	33	6364	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1959					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5875-5877)aCa>aGa		HECT domain containing E3 ubiquitin protein ligase 1							119.0	117.0	118.0					14																	31582671		1804	4081	5885	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582671G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5876C>G	14.37:g.31582671G>C	ENSP00000382269:p.Thr1959Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	33	6364	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1959					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5876C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.16|12.16	1.855503|1.855503	0.32791|0.32791	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.43294	.|0.95;0.95;1.5	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.368132	.|0.22840	.|U	.|0.054996	T|T	0.31949|0.31949	0.0813|0.0813	N|N	0.22421|0.22421	0.69|0.69	0.28912|0.28912	N|N	0.892638|0.892638	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.13710|0.13710	-1.0499|-1.0499	5|10	.|0.38643	.|T	.|0.18	-12.6934|-12.6934	15.5572|15.5572	0.76203|0.76203	0.0:0.1373:0.8627:0.0|0.0:0.1373:0.8627:0.0	.|.	.|1959;1959	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	E|R	325|1959;1961;1959;1386	.|ENSP00000450697:T1959R;ENSP00000382269:T1959R;ENSP00000451860:T1386R	.|ENSP00000261312:T1961R	Q|T	-|-	1|2	0|0	HECTD1|HECTD1	30652422|30652422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.050000|5.050000	0.64251|0.64251	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CAA|ACA		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			4	199	0	0	0	1	0	4	199				
TMTC2	160335	broad.mit.edu	37	12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	ENST00000321196.3	+	3	1732	c.1025T>C	c.(1024-1026)gTa>gCa	p.V342A	TMTC2_ENST00000549919.1_Missense_Mutation_p.V336A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	342					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1006-1008)gTa>gCa		transmembrane and tetratricopeptide repeat containing 2							109.0	103.0	105.0					12																	83289967		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289967T>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1025T>C	12.37:g.83289967T>C	ENSP00000322300:p.Val342Ala					TMTC2_ENST00000321196.3_Missense_Mutation_p.V342A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A	p.V336A			Q8N394	TMTC2_HUMAN			4	2812	+			342					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1007T>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	8.346	0.829770	0.16749	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61627	0.73;0.09;0.63	5.98	4.83	0.62350	.	0.654660	0.16410	N	0.215636	T	0.40670	0.1126	N	0.14661	0.345	0.36049	D	0.840601	B;B;B	0.22211	0.0;0.066;0.0	B;B;B	0.21708	0.0;0.036;0.0	T	0.39542	-0.9609	10	0.27785	T	0.31	-8.6828	12.2661	0.54679	0.0:0.0662:0.0:0.9338	.	342;97;342	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	A	342;342;336;97	ENSP00000322300:V342A;ENSP00000448292:V342A;ENSP00000447609:V336A	ENSP00000322300:V342A	V	+	2	0	TMTC2	81814098	0.491000	0.26019	0.334000	0.25495	0.807000	0.45602	2.062000	0.41413	1.073000	0.40885	0.528000	0.53228	GTA		0.448	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		6	141	0	0	0	1	0	6	141				
NADK	65220	broad.mit.edu	37	1	1686109	1686109	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	ENST00000341426.5	-	8	938	c.717G>A	c.(715-717)cgG>cgA	p.R239R	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000344463.4_Silent_p.R384R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000342348.5_Silent_p.R207R	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	239					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1150-1152)cgG>cgA		NAD kinase							106.0	103.0	104.0					1																	1686109		2203	4300	6503	SO:0001819	synonymous_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1686109C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.717G>A	1.37:g.1686109C>T						NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000341426.5_Silent_p.R239R|NADK_ENST00000342348.5_Silent_p.R207R	p.R384R			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	10	1373	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	239					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.1152G>A	CCDS30565.1																																																																																				0.647	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		5	229	0	0	0	1	0	5	229				
CD151	977	broad.mit.edu	37	11	837606	837606	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	ENST00000397420.3	+	7	852	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M|CD151_ENST00000322008.4_Missense_Mutation_p.I201M			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	201					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642																																					Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(601-603)atC>atG		CD151 molecule (Raph blood group)							94.0	88.0	90.0					11																	837606		2201	4296	6497	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:837606C>G	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.603C>G	11.37:g.837606C>G	ENSP00000380565:p.Ile201Met					CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M|CD151_ENST00000322008.4_Missense_Mutation_p.I201M	p.I201M			P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	852	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	201					A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.603C>G	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821055	0.71028	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000528011	T;T;T;T;T	0.80480	-1.25;-1.25;-1.25;1.12;-1.38	4.17	4.17	0.49024	Tetraspanin, EC2 domain (1);	0.356263	0.30676	N	0.009113	D	0.90628	0.7061	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92672	0.6151	10	0.87932	D	0	.	16.2631	0.82557	0.0:1.0:0.0:0.0	.	201	P48509	CD151_HUMAN	M	201;201;201;176;77;201	ENSP00000380565:I201M;ENSP00000324101:I201M;ENSP00000380566:I201M;ENSP00000432258:I176M;ENSP00000432990:I201M	ENSP00000324101:I201M	I	+	3	3	CD151	827606	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.885000	0.48570	2.171000	0.68590	0.561000	0.74099	ATC		0.642	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		5	66	0	0	0	1	0	5	66				
NAA40	79829	broad.mit.edu	37	11	63721927	63721927	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000542163.1_Silent_p.G209G|NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000539656.1_Silent_p.G117G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(688-690)ggG>ggC		N(alpha)-acetyltransferase 40, NatD catalytic subunit							47.0	49.0	48.0					11																	63721927		2201	4297	6498	SO:0001819	synonymous_variant	79829						N-acetyltransferase activity	g.chr11:63721927G>C	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.690G>C	11.37:g.63721927G>C						NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000542163.1_Silent_p.G209G|NAA40_ENST00000539656.1_Silent_p.G117G	p.G230G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			8	791	+			230					B4DR03|B4DU10|Q5HYL5|Q9H897	Silent	SNP	ENST00000377793.4	37	c.690G>C	CCDS8053.1																																																																																				0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		12	73	0	0	0	1	0	12	73				
PEAK1	79834	broad.mit.edu	37	15	77407234	77407234	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:77407234G>C	ENST00000560626.2	-	7	4980	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCAAGACCAGAGCATAGCTG	0.542																																						ENST00000560626.2																			0											c.(4504-4506)tCt>tGt		pseudopodium-enriched atypical kinase 1							61.0	63.0	63.0					15																	77407234		2064	4201	6265	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407234G>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4505C>G	15.37:g.77407234G>C	ENSP00000452796:p.Ser1502Cys					PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C	p.S1502C			Q9H792	PEAK1_HUMAN			7	4980	-			1502			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4505C>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534994	0.45073	.	.	ENSG00000173517	ENST00000312493	T	0.67523	-0.27	5.03	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.303995	0.26457	U	0.024279	T	0.76307	0.3969	M	0.70595	2.14	0.24754	N	0.992966	D	0.76494	0.999	D	0.65323	0.934	T	0.67597	-0.5630	10	0.72032	D	0.01	-4.5434	8.1831	0.31322	0.0863:0.3013:0.6124:0.0	.	1502	Q9H792	PEAK1_HUMAN	C	1502	ENSP00000309230:S1502C	ENSP00000309230:S1502C	S	-	2	0	AC087465.1	75194289	1.000000	0.71417	0.966000	0.40874	0.920000	0.55202	3.220000	0.51207	1.110000	0.41699	0.561000	0.74099	TCT		0.542	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			35	48	0	0	0	1	0	35	48				
KIAA1161	57462	broad.mit.edu	37	9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(838-840)Cga>Tga		KIAA1161							59.0	63.0	62.0					9																	34372002		2069	4190	6259	SO:0001587	stop_gained	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372002G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.838C>T	9.37:g.34372002G>A	ENSP00000297625:p.Arg280*						p.R280*	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1063	-			314					Q5T587|Q5T588|Q9ULQ9	Nonsense_Mutation	SNP	ENST00000297625.7	37	c.838C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.487249	0.96323	.	.	ENSG00000164976	ENST00000297625	.	.	.	6.08	4.22	0.49857	.	0.376195	0.27219	N	0.020368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.6627	13.4401	0.61108	0.0:0.0:0.5883:0.4117	.	.	.	.	X	280	.	ENSP00000297625:R280X	R	-	1	2	KIAA1161	34362002	0.976000	0.34144	0.999000	0.59377	0.981000	0.71138	0.929000	0.28844	0.874000	0.35823	0.655000	0.94253	CGA		0.612	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		8	53	0	0	0	1	0	8	53				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	46	0	0	0	1	0	4	46				
FARP1	10160	broad.mit.edu	37	13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	ENST00000319562.6	+	25	3144	c.2879G>C	c.(2878-2880)tGc>tCc	p.C960S	FARP1_ENST00000376586.2_Missense_Mutation_p.C991S|FARP1_ENST00000595437.1_Missense_Mutation_p.C991S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	960	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2971-2973)tGc>tCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							106.0	101.0	103.0					13																	99098434		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99098434G>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2879G>C	13.37:g.99098434G>C	ENSP00000322926:p.Cys960Ser		OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1341	FARP1_ENST00000595437.1_Missense_Mutation_p.C991S|FARP1_ENST00000319562.6_Missense_Mutation_p.C960S	p.C991S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		26	3308	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		960			PH 2.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2972G>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627649	0.87560	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75260	-0.92;-0.92	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048687	0.85682	D	0.000000	T	0.81842	0.4908	M	0.68952	2.095	0.80722	D	1	P;B	0.52463	0.953;0.247	P;B	0.53266	0.722;0.277	T	0.83253	-0.0052	10	0.56958	D	0.05	.	19.002	0.92838	0.0:0.0:1.0:0.0	.	960;991	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	991;960	ENSP00000365771:C991S;ENSP00000322926:C960S	ENSP00000322926:C960S	C	+	2	0	FARP1	97896435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.486000	0.83907	0.561000	0.74099	TGC		0.562	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		5	61	0	0	0	1	0	5	61				
CUX2	23316	broad.mit.edu	37	12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	ENST00000261726.6	+	22	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1480					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4438-4440)gAg>gTg		cut-like homeobox 2							59.0	65.0	63.0					12																	111786107		1984	4151	6135	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111786107A>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4439A>T	12.37:g.111786107A>T	ENSP00000261726:p.Glu1480Val						p.E1480V	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4593	+			1480					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4439A>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517990	0.85495	.	.	ENSG00000111249	ENST00000261726	T	0.61274	0.12	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.77694	-0.2492	10	0.87932	D	0	-28.8768	15.0071	0.71522	1.0:0.0:0.0:0.0	.	1480	O14529	CUX2_HUMAN	V	1480	ENSP00000261726:E1480V	ENSP00000261726:E1480V	E	+	2	0	CUX2	110270490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.030000	0.59900	0.533000	0.62120	GAG		0.572	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	186	0	0	0	1	0	5	186				
HOXB5	3215	broad.mit.edu	37	17	46669799	46669799	+	Silent	SNP	C	C	G	rs556018585		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_5'Flank|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000472863.1_5'Flank|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12231	0.0		0.001	False		,,,				2504	0.0					ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(580-582)ggG>ggC		homeobox B5							46.0	47.0	46.0					17																	46669799		2203	4300	6503	SO:0001819	synonymous_variant	3215					nucleus	sequence-specific DNA binding	g.chr17:46669799C>G		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.582G>C	17.37:g.46669799C>G						HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	p.G194G	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			2	860	-			194					B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	c.582G>C	CCDS11530.1																																																																																				0.632	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			40	47	0	0	0	1	0	40	47				
C9orf24	84688	broad.mit.edu	37	9	34381050	34381050	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	ENST00000297623.2	-	5	750	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_ENST00000379126.3_Intron|C9orf24_ENST00000379133.3_Silent_p.C49C|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379124.1_Silent_p.C49C	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	184					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(550-552)tgC>tgT		chromosome 9 open reading frame 24							12.0	17.0	15.0					9																	34381050		2195	4288	6483	SO:0001819	synonymous_variant	84688							g.chr9:34381050G>A	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.552C>T	9.37:g.34381050G>A						C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379126.3_Intron|C9orf24_ENST00000379124.1_Silent_p.C49C|C9orf24_ENST00000379133.3_Silent_p.C49C	p.C184C	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	5	750	-			184					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.552C>T	CCDS6554.1																																																																																				0.677	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		3	23	0	0	0	1	0	3	23				
ABCA6	23460	broad.mit.edu	37	17	67111542	67111542	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1579-1581)ctT>ctC		ATP-binding cassette, sub-family A (ABC1), member 6							103.0	102.0	102.0					17																	67111542		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111542A>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1581T>C	17.37:g.67111542A>G							p.L527L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			12	1755	-	Breast(10;5.65e-12)		527			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.1581T>C	CCDS11683.1																																																																																				0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		40	65	0	0	0	1	0	40	65				
PRR35	146325	broad.mit.edu	37	16	615104	615104	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R	NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1513-1515)Ggc>Cgc		chromosome 16 open reading frame 11							10.0	13.0	12.0					16																	615104		1905	4092	5997	SO:0001583	missense	146325							g.chr16:615104G>C																												ENST00000409413.3:c.1513G>C	16.37:g.615104G>C	ENSP00000386499:p.Gly505Arg						p.G505R	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			3	1792	+			505					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1513G>C	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258336	0.59321	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.16	1.02	0.19986	.	0.780131	0.10672	U	0.647458	T	0.48484	0.1502	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.36962	-0.9726	9	0.48119	T	0.1	.	9.6678	0.39994	0.2148:0.0:0.7852:0.0	.	505	P0CG20	CP011_HUMAN	R	505	.	ENSP00000386499:G505R	G	+	1	0	C16orf11	555105	0.598000	0.26882	0.464000	0.27143	0.062000	0.15995	0.905000	0.28504	0.407000	0.25591	0.491000	0.48974	GGC		0.741	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			22	31	0	0	0	1	0	22	31				
RTP5	285093	broad.mit.edu	37	2	242815408	242815408	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:242815408C>G	ENST00000343216.3	+	2	1729	c.1701C>G	c.(1699-1701)atC>atG	p.I567M		NM_173821.2	NP_776182.2																					ACCCCGGGATCTACCCGCAGC	0.647																																						ENST00000343216.3																			0											c.(1699-1701)atC>atG		CXXC finger protein 11							91.0	101.0	98.0					2																	242815408		2023	4089	6112	SO:0001583	missense	285093					integral to membrane		g.chr2:242815408C>G																												ENST00000343216.3:c.1701C>G	2.37:g.242815408C>G	ENSP00000345374:p.Ile567Met						p.I567M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1729	+			567						Missense_Mutation	SNP	ENST00000343216.3	37	c.1701C>G	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244245	0.22796	.	.	ENSG00000188011	ENST00000343216	T	0.27720	1.65	1.95	0.564	0.17302	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	P	0.36647	0.563	B	0.23275	0.045	T	0.15292	-1.0442	9	0.49607	T	0.09	.	3.7327	0.08499	0.0:0.6478:0.0:0.3522	.	567	Q14D33	CB085_HUMAN	M	567	ENSP00000345374:I567M	ENSP00000345374:I567M	I	+	3	3	C2orf85	242464081	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.042000	0.12063	0.148000	0.19059	0.186000	0.17326	ATC		0.647	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			12	267	0	0	0	1	0	12	267				
DLG5	9231	broad.mit.edu	37	10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1990-1992)Att>Ttt		discs, large homolog 5 (Drosophila)							112.0	99.0	103.0					10																	79589994		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589994T>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1990A>T	10.37:g.79589994T>A	ENSP00000361467:p.Ile664Phe					DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		11	1995	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		664			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1990A>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529290	0.44969	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.27256	1.68;1.68	5.47	3.09	0.35607	PDZ/DHR/GLGF (4);	0.451871	0.16508	N	0.211341	T	0.37237	0.0996	M	0.82823	2.61	0.38615	D	0.951006	B;B;P	0.41188	0.225;0.266;0.741	B;B;P	0.44394	0.116;0.257;0.448	T	0.28618	-1.0038	10	0.54805	T	0.06	.	9.6373	0.39817	0.0:0.1338:0.0:0.8662	.	554;664;664	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	F	664;664;213	ENSP00000361467:I664F;ENSP00000361464:I664F	ENSP00000361464:I664F	I	-	1	0	DLG5	79260000	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.450000	0.44943	0.347000	0.23924	0.459000	0.35465	ATT		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			32	76	0	0	0	1	0	32	76				
TAS2R4	50832	broad.mit.edu	37	7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	ENST00000247881.2	+	1	500	c.453C>G	c.(451-453)agC>agG	p.S151R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	151					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(451-453)agC>agG		taste receptor, type 2, member 4							239.0	225.0	230.0					7																	141478741		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478741C>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.453C>G	7.37:g.141478741C>G	ENSP00000247881:p.Ser151Arg					SSBP1_ENST00000465582.1_Intron	p.S151R	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	500	+	Melanoma(164;0.0171)		151					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.453C>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.116584	0.00349	.	.	ENSG00000127364	ENST00000247881	T	0.00768	5.72	5.37	3.29	0.37713	.	1.028080	0.07689	N	0.938445	T	0.00580	0.0019	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.43114	-0.9411	10	0.10902	T	0.67	.	11.8691	0.52511	0.7486:0.2514:0.0:0.0	.	151	Q9NYW5	TA2R4_HUMAN	R	151	ENSP00000247881:S151R	ENSP00000247881:S151R	S	+	3	2	TAS2R4	141125210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.070000	0.11523	0.594000	0.29761	0.632000	0.83419	AGC		0.468	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			7	342	0	0	0	1	0	7	342				
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2227-2229)tCg>tTg		formin 2							52.0	51.0	52.0					1																	240370340		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370340C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2228C>T	1.37:g.240370340C>T	ENSP00000318884:p.Ser743Leu						p.S743L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2458	+	Ovarian(103;0.127)	all_cancers(173;0.013)	743					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2228C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495253	0.26774	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.48201	0.82	5.06	4.13	0.48395	.	0.000000	0.64402	D	0.000016	T	0.66346	0.2780	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.72171	-0.4371	10	0.87932	D	0	.	14.8191	0.70059	0.1451:0.8549:0.0:0.0	.	743	Q9NZ56	FMN2_HUMAN	L	180;743	ENSP00000318884:S743L	ENSP00000318884:S743L	S	+	2	0	FMN2	238436963	1.000000	0.71417	0.722000	0.30670	0.004000	0.04260	6.680000	0.74518	1.325000	0.45301	0.655000	0.94253	TCG		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	30	0	0	0	1	0	13	30				
HIST1H3B	8358	broad.mit.edu	37	6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G	rs199651736		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	ENST00000244661.2	-	1	113	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	38					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(112-114)aaG>aaC		histone cluster 1, H3b							56.0	70.0	65.0					6																	26032175		2200	4296	6496	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032175C>G	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.114G>C	6.37:g.26032175C>G	ENSP00000244661:p.Lys38Asn						p.K38N	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	113	-			38					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.114G>C	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	11.61	1.689098	0.29962	.	.	ENSG00000124693	ENST00000244661	T	0.49432	0.78	5.05	2.29	0.28610	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.30686	N	0.751885	.	.	.	.	.	.	T	0.19160	-1.0314	6	0.87932	D	0	.	8.0631	0.30644	0.0:0.682:0.0:0.318	.	.	.	.	N	38	ENSP00000244661:K38N	ENSP00000244661:K38N	K	-	3	2	HIST1H3B	26140154	1.000000	0.71417	0.981000	0.43875	0.044000	0.14063	1.269000	0.33074	0.250000	0.21479	-0.258000	0.10820	AAG		0.642	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		7	240	0	0	0	1	0	7	240				
SYT10	341359	broad.mit.edu	37	12	33529816	33529816	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1519-1521)agT>agC		synaptotagmin X							123.0	120.0	121.0					12																	33529816		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529816A>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1521T>C	12.37:g.33529816A>G						SYT10_ENST00000535526.1_Silent_p.S326S	p.S507S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1817	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		507					Q495U2	Silent	SNP	ENST00000228567.3	37	c.1521T>C	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		35	61	0	0	0	1	0	35	61				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E268E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	33	0	0	0	1	0	3	33				
CYP3A4	1576	broad.mit.edu	37	7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000336411.2	-	11	1249	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CYP3A4_ENST00000354593.2_Missense_Mutation_p.L206V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ACCATGTCAAGATACTCCATC	0.398																																						ENST00000354593.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(616-618)Ctt>Gtt		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						133.0	117.0	122.0					7																	99359851		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359851G>C	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1066C>G	7.37:g.99359851G>C	ENSP00000337915:p.Leu356Val					CYP3A4_ENST00000336411.2_Missense_Mutation_p.L356V	p.L206V			P08684	CP3A4_HUMAN			6	719	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		356					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.616C>G	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620273	0.46736	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.76316	-1.01;-1.01	4.35	2.45	0.29901	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.93241	3.395	0.53005	D	0.999966	D;D;D;D;D	0.71674	0.992;0.998;0.997;0.997;0.997	P;D;D;D;D	0.72625	0.882;0.978;0.92;0.92;0.92	D	0.84438	0.0581	10	0.87932	D	0	.	2.4234	0.04454	0.1082:0.193:0.5:0.1988	.	206;283;356;356;356	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	V	206;356	ENSP00000346607:L206V;ENSP00000337915:L356V	ENSP00000337915:L356V	L	-	1	0	CYP3A4	99197787	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	3.029000	0.49712	0.755000	0.32990	0.561000	0.74099	CTT		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			5	86	0	0	0	1	0	5	86				
PTGDR2	11251	broad.mit.edu	37	11	60620596	60620596	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60620596G>C	ENST00000332539.4	-	2	711	c.600C>G	c.(598-600)aaC>aaG	p.N200K	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	200					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)	CCTGCCGCGAGTTGCACGTGG	0.667																																						ENST00000332539.4																			0											c.(598-600)aaC>aaG		prostaglandin D2 receptor 2							25.0	29.0	28.0					11																	60620596		2203	4299	6502	SO:0001583	missense	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620596G>C	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.600C>G	11.37:g.60620596G>C	ENSP00000332812:p.Asn200Lys						p.N200K	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	711	-			200					O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	c.600C>G	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.066324	0.01934	.	.	ENSG00000183134	ENST00000332539	T	0.36699	1.24	4.74	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.643439	0.16112	N	0.229080	T	0.17152	0.0412	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.13683	-1.0500	10	0.09338	T	0.73	.	11.1037	0.48190	0.11:0.0:0.89:0.0	.	200	Q9Y5Y4	GPR44_HUMAN	K	200	ENSP00000332812:N200K	ENSP00000332812:N200K	N	-	3	2	GPR44	60377172	0.034000	0.19679	0.481000	0.27354	0.791000	0.44710	1.838000	0.39211	2.187000	0.69744	0.511000	0.50034	AAC		0.667	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		6	21	0	0	0	1	0	6	21				
GPRC5C	55890	broad.mit.edu	37	17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	421					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1396-1398)gCg>gTg		G protein-coupled receptor, family C, group 5, member C		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	79.0	76.0		1298,1397	-4.9	0.0	17	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	433/454,466/487	72443103	1,13005	2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443103C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1397C>T	17.37:g.72443103C>T	ENSP00000376403:p.Ala466Val					GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000481232.1_3'UTR	p.A466V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			4	2523	+			421					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1397C>T	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	1.287	-0.608746	0.03717	2.27E-4	0.0	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.23754	1.89;2.23	5.72	-4.93	0.03066	.	1.193380	0.05896	N	0.629163	T	0.10078	0.0247	N	0.22421	0.69	0.18873	N	0.999985	P;B;B;B	0.35011	0.48;0.004;0.004;0.007	B;B;B;B	0.23018	0.043;0.001;0.001;0.003	T	0.23297	-1.0192	10	0.09338	T	0.73	-46.4604	4.2768	0.10813	0.3474:0.302:0.0:0.3506	.	132;421;421;433	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	V	421;466;132;433;421	ENSP00000376403:A421V;ENSP00000376405:A433V	ENSP00000262616:A132V	A	+	2	0	GPRC5C	69954698	0.002000	0.14202	0.002000	0.10522	0.028000	0.11728	0.085000	0.14912	-1.230000	0.02561	-2.030000	0.00424	GCG		0.637	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			12	179	0	0	0	1	0	12	179				
MYO5B	4645	broad.mit.edu	37	18	47383224	47383224	+	Silent	SNP	T	T	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3979-3981)ggA>ggC		myosin VB							115.0	116.0	116.0					18																	47383224		1938	4143	6081	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47383224T>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3981A>C	18.37:g.47383224T>G						MYO5B_ENST00000324581.6_Intron	p.G1327G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	30	4280	-			1327					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3981A>C	CCDS42436.1																																																																																				0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			23	35	0	0	0	1	0	23	35				
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000269305.4	-	8	983	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTCCGTCCCAGTAGATTACC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD004355|CM971505	TP53	D|M		c.(793-795)cTg>cCg	Other conserved DNA damage response genes	tumor protein p53							46.0	41.0	43.0					17																	7577144		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577144A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.794T>C	17.37:g.7577144A>G	ENSP00000269305:p.Leu265Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P|TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P	p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	926	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	265		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.794T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724991	0.68959	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99849	0.9930	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.96469	0.9347	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	265;265;265;265;265;254;133	ENSP00000352610:L265P;ENSP00000269305:L265P;ENSP00000398846:L265P;ENSP00000391127:L265P;ENSP00000391478:L265P;ENSP00000425104:L133P	ENSP00000269305:L265P	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	4	0	0	0	1	0	27	4				
COL7A1	1294	broad.mit.edu	37	3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1723-1725)Gtg>Atg		collagen, type VII, alpha 1							137.0	105.0	116.0					3																	48628163		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628163C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1723G>A	3.37:g.48628163C>T	ENSP00000332371:p.Val575Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1830	-			575			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1723G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548164	0.45383	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.74106	-0.81;-0.81	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000734	D	0.85818	0.5785	M	0.74881	2.28	0.41839	D	0.990114	D	0.89917	1.0	D	0.91635	0.999	D	0.87262	0.2280	10	0.87932	D	0	.	16.6423	0.85129	0.0:1.0:0.0:0.0	.	575	Q02388	CO7A1_HUMAN	M	575	ENSP00000332371:V575M;ENSP00000412569:V575M	ENSP00000332371:V575M	V	-	1	0	COL7A1	48603167	0.997000	0.39634	0.989000	0.46669	0.923000	0.55619	3.166000	0.50785	2.787000	0.95880	0.650000	0.86243	GTG		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		28	99	0	0	0	1	0	28	99				
UTRN	7402	broad.mit.edu	37	6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9640-9642)Gat>Cat		utrophin							99.0	91.0	94.0					6																	145149966		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145149966G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9640G>C	6.37:g.145149966G>C	ENSP00000356515:p.Asp3214His					UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	p.D3214H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	68	9640	+		Ovarian(120;0.218)	3214					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9640G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503868	0.85176	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000067	D	0.91185	0.7223	M	0.82517	2.595	0.53005	D	0.999966	P	0.42203	0.773	P	0.55615	0.78	D	0.91481	0.5204	10	0.72032	D	0.01	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	3214	P46939	UTRO_HUMAN	H	3214;769;160;173;160;126	ENSP00000356515:D3214H;ENSP00000356496:D769H;ENSP00000398923:D173H;ENSP00000404205:D160H;ENSP00000387927:D126H	ENSP00000356496:D769H	D	+	1	0	UTRN	145191659	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	GAT		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	28	0	0	0	1	0	5	28				
SALL3	27164	broad.mit.edu	37	18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000537592.2	+	2	1222	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q|SALL3_ENST00000536229.3_Missense_Mutation_p.E275Q	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(823-825)Gag>Cag		spalt-like transcription factor 3							24.0	18.0	20.0					18																	76753213		2201	4297	6498	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753213G>C	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1222G>C	18.37:g.76753213G>C	ENSP00000441823:p.Glu408Gln					SALL3_ENST00000537592.2_Missense_Mutation_p.E408Q|SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q	p.E275Q			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1532	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	408					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.823G>C	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290276	0.40494	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000030	T	0.33876	0.0878	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.67145	0.996;0.983	D;P	0.66979	0.948;0.701	T	0.16276	-1.0408	10	0.22706	T	0.39	-49.2422	17.489	0.87698	0.0:0.0:1.0:0.0	.	140;408	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Q	408;408;140	ENSP00000441823:E408Q	ENSP00000299466:E408Q	E	+	1	0	SALL3	74854201	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.575000	0.98187	2.352000	0.79861	0.460000	0.39030	GAG		0.657	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		9	20	0	0	0	1	0	9	20				
MYZAP	100820829	broad.mit.edu	37	15	57976627	57976627	+	Silent	SNP	G	G	C	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	ENST00000267853.5	+	13	1426	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_ENST00000380560.2_Silent_p.V375V|MYZAP_ENST00000380565.4_Silent_p.V416V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000572390.1_Silent_p.V416V|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Intron|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000574161.1_Silent_p.V444V			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	444					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GTGAAATTGTGATGCCTTCTA	0.433																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(1330-1332)gtG>gtC				G	,,,	1,4383	2.1+/-5.4	0,1,2191	121.0	123.0	122.0		,,1332,1248	-11.3	0.0	15	dbSNP_134	122	0,8584		0,0,4292	no	intron,intron,coding-synonymous,coding-synonymous	GCOM1	NM_001018090.3,NM_001018091.3,NM_001018100.3,NM_152451.6	,,,	0,1,6483	CC,CG,GG		0.0,0.0228,0.0077	,,,	,,444/467,416/439	57976627	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57976627G>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1332G>C	15.37:g.57976627G>C						GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000380560.2_Silent_p.V375V|GCOM1_ENST00000380561.2_Intron|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Silent_p.V444V|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Intron|MYZAP_ENST00000380565.4_Silent_p.V416V|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000572390.1_Silent_p.V416V	p.V444V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			13	1451	+			444					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	ENST00000267853.5	37	c.1332G>C	CCDS10162.1																																																																																				0.433	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		4	164	0	0	0	1	0	4	164				
ZNFX1	57169	broad.mit.edu	37	20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1087-1089)Gac>Cac		zinc finger, NFX1-type containing 1							129.0	123.0	125.0					20																	47887262		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887262C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1087G>C	20.37:g.47887262C>G	ENSP00000379412:p.Asp363His					ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1333	-			363					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1087G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122612	0.37436	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87334	-1.93;-2.24;-2.24;-0.86;-1.61	6.06	6.06	0.98353	.	0.320958	0.38720	N	0.001591	T	0.78923	0.4360	N	0.11560	0.145	0.29388	N	0.862843	P	0.39903	0.694	B	0.38296	0.27	T	0.76631	-0.2888	10	0.46703	T	0.11	-10.164	19.1847	0.93639	0.0:1.0:0.0:0.0	.	363	Q9P2E3	ZNFX1_HUMAN	H	363;363;363;363;363;167	ENSP00000360819:D363H;ENSP00000360817:D363H;ENSP00000379412:D363H;ENSP00000360809:D363H;ENSP00000413800:D167H	ENSP00000360809:D363H	D	-	1	0	ZNFX1	47320669	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	3.140000	0.50585	2.882000	0.98803	0.655000	0.94253	GAC		0.473	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	166	0	0	0	1	0	10	166				
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000425629.3	-	2	314	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(160-162)Ccc>Acc		sialic acid binding Ig-like lectin 6							70.0	75.0	74.0					19																	52034681		2195	4297	6492	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034681G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.160C>A	19.37:g.52034681G>T	ENSP00000401502:p.Pro54Thr					SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T	p.P54T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	228	-		all_neural(266;0.0199)	54			Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.160C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303440	0.05495	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29620	0.0739	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B;B	0.17852	0.005;0.006;0.005;0.01;0.019;0.024	B;B;B;B;B;B	0.17433	0.001;0.005;0.003;0.018;0.005;0.004	T	0.17289	-1.0374	9	0.27082	T	0.32	.	6.1431	0.20271	0.2016:0.4493:0.3491:0.0	.	54;54;54;54;54;54	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	43;54;54;54;54;54	ENSP00000375674:P54T;ENSP00000401502:P54T;ENSP00000353071:P54T;ENSP00000345907:P54T	ENSP00000345907:P54T	P	-	1	0	SIGLEC6	56726493	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	0.071000	0.14594	-1.660000	0.01486	0.194000	0.17425	CCC		0.597	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	27	1	0	3.99451e-17	1	4.12678e-17	32	27				
BRD1	23774	broad.mit.edu	37	22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(847-849)aaG>aaC		bromodomain containing 1							55.0	52.0	53.0					22																	50217117		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217117C>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.849G>C	22.37:g.50217117C>G	ENSP00000216267:p.Lys283Asn					BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N	p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1335	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	283					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.849G>C	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722262	0.68959	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.13	5.13	0.70059	.	0.087241	0.85682	D	0.000000	T	0.33876	0.0878	L	0.39245	1.2	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.96;0.984;0.933	T	0.01776	-1.1276	9	.	.	.	.	18.5709	0.91135	0.0:1.0:0.0:0.0	.	283;283;283	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	N	283	ENSP00000216267:K283N;ENSP00000384076:K283N;ENSP00000385858:K283N;ENSP00000410042:K283N	.	K	-	3	2	BRD1	48603121	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.589000	0.67523	2.388000	0.81334	0.563000	0.77884	AAG		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		8	108	0	0	0	1	0	8	108				
SLC12A7	10723	broad.mit.edu	37	5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	ENST00000264930.5	-	10	1349	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	436					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1306-1308)Gcg>Ccg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						112.0	109.0	110.0					5																	1079603		2202	4299	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1079603C>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1306G>C	5.37:g.1079603C>G	ENSP00000264930:p.Ala436Pro						p.A436P	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		10	1349	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		436					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1306G>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222754	0.58668	.	.	ENSG00000113504	ENST00000264930	D	0.98968	-5.28	3.79	3.79	0.43588	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	H	0.97918	4.105	0.80722	D	1	P	0.46952	0.887	P	0.50934	0.654	D	0.99191	1.0870	10	0.87932	D	0	.	14.5571	0.68109	0.0:1.0:0.0:0.0	.	436	Q9Y666	S12A7_HUMAN	P	436	ENSP00000264930:A436P	ENSP00000264930:A436P	A	-	1	0	SLC12A7	1132603	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.269000	0.65542	1.836000	0.53414	0.491000	0.48974	GCG		0.557	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	63	0	0	0	1	0	3	63				
UTRN	7402	broad.mit.edu	37	6	145149992	145149992	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.e68+1		utrophin							83.0	77.0	79.0					6																	145149992		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145149992G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9665+1G>C	6.37:g.145149992G>C						UTRN_ENST00000367526.4_Splice_Site		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	68	9665	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37		CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704452	0.88924	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000417142;ENST00000455022	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	145191685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	.		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	3	25	0	0	0	1	0	3	25				
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5																			5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C							p.N336N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	293	0	0	0	1	0	4	293				
PLBD2	196463	broad.mit.edu	37	12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	ENST00000280800.3	+	10	1418	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607																																						ENST00000280800.3																			1	Substitution - coding silent(1)	p.R463R(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1387-1389)Cgg>Tgg		phospholipase B domain containing 2							71.0	76.0	74.0					12																	113824842		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824842C>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1387C>T	12.37:g.113824842C>T	ENSP00000280800:p.Arg463Trp					PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	p.R463W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1418	+			463					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1387C>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003235	0.74932	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18810	2.19;2.19	5.33	3.36	0.38483	.	0.531595	0.20401	N	0.093055	T	0.50582	0.1624	M	0.91196	3.185	0.29110	N	0.880921	D;D	0.76494	0.999;0.995	P;P	0.62382	0.857;0.901	T	0.57934	-0.7725	10	0.72032	D	0.01	-16.1598	13.6446	0.62275	0.1165:0.7561:0.1274:0.0	.	431;463	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	W	431;463	ENSP00000443463:R431W;ENSP00000280800:R463W	ENSP00000280800:R463W	R	+	1	2	PLBD2	112309225	0.478000	0.25917	0.986000	0.45419	0.995000	0.86356	1.109000	0.31135	1.225000	0.43566	0.561000	0.74099	CGG		0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	161	0	0	0	1	0	14	161				
DDI1	414301	broad.mit.edu	37	11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(619-621)Gat>Cat		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							69.0	78.0	75.0					11																	103908169		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908169G>C		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.619G>C	11.37:g.103908169G>C	ENSP00000302805:p.Asp207His					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.D207H	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	862	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	207					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.619G>C	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159137	0.38119	.	.	ENSG00000170967	ENST00000302259	T	0.28895	1.59	4.96	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.89353	3.025	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.64647	-0.6358	10	0.87932	D	0	-9.9383	11.1545	0.48480	0.092:0.0:0.908:0.0	.	207	Q8WTU0	DDI1_HUMAN	H	207	ENSP00000302805:D207H	ENSP00000302805:D207H	D	+	1	0	DDI1	103413379	1.000000	0.71417	0.155000	0.22561	0.002000	0.02628	7.203000	0.77864	2.745000	0.94114	0.655000	0.94253	GAT		0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		64	94	0	0	0	1	0	64	94				
PCDHA10	56139	broad.mit.edu	37	5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1873-1875)Ctg>Gtg									72.0	77.0	75.0					5																	140237506		1324	2291	3615	SO:0001583	missense	0							g.chr5:140237506C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1873C>G	5.37:g.140237506C>G	ENSP00000304234:p.Leu625Val					PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.L625V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1873	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1873C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639841	0.29157	.	.	ENSG00000250120	ENST00000307360	T	0.50813	0.73	3.68	2.8	0.32819	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63177	0.2489	M	0.79614	2.46	0.09310	N	0.999996	D;P	0.61080	0.989;0.6	P;B	0.58721	0.844;0.363	T	0.53337	-0.8453	9	0.59425	D	0.04	.	11.8505	0.52410	0.0:0.9077:0.0:0.0923	.	625;625	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	625	ENSP00000304234:L625V	ENSP00000304234:L625V	L	+	1	2	PCDHA10	140217690	0.000000	0.05858	0.997000	0.53966	0.803000	0.45373	-0.070000	0.11523	2.041000	0.60428	0.491000	0.48974	CTG		0.632	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		13	49	0	0	0	1	0	13	49				
KIAA1549L	25758	broad.mit.edu	37	11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	ENST00000321505.4	+	1	863	c.683C>G	c.(682-684)aCt>aGt	p.T228S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	228						integral component of membrane (GO:0016021)											GAAATGCCCACTCTTCCAGCA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(682-684)aCt>aGt		KIAA1549-like							79.0	78.0	78.0					11																	33564683		1941	4139	6080	SO:0001583	missense	25758							g.chr11:33564683C>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.683C>G	11.37:g.33564683C>G	ENSP00000315295:p.Thr228Ser		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S	p.T228S							1	863	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.683C>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747589	0.15710	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.3	2.31	0.28768	.	2.000870	0.02534	N	0.093895	T	0.23611	0.0571	N	0.14661	0.345	0.09310	N	1	B;B	0.27351	0.011;0.176	B;B	0.21917	0.008;0.037	T	0.17930	-1.0353	9	0.30854	T	0.27	8.1797	6.6638	0.23029	0.0:0.6958:0.1481:0.156	.	228;228	E9PAT2;Q6ZVL6-2	.;.	S	228;228;228;68	.	ENSP00000265654:T228S	T	+	2	0	C11orf41	33521259	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.643000	0.05421	0.198000	0.20407	0.555000	0.69702	ACT		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		25	108	0	0	0	1	0	25	108				
KBTBD11	9920	broad.mit.edu	37	8	1950795	1950795	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:1950795G>C	ENST00000320248.3	+	2	2403	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	479										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		GGCGCGACGAGTGGCAGGAGT	0.687																																						ENST00000320248.3																			0				lung(1)|pancreas(1)	2						c.(1435-1437)gaG>gaC		kelch repeat and BTB (POZ) domain containing 11							10.0	8.0	9.0					8																	1950795		2034	3936	5970	SO:0001583	missense	9920							g.chr8:1950795G>C	AB018254	CCDS34795.1	8p23.3	2014-08-12			ENSG00000176595	ENSG00000176595		"""BTB/POZ domain containing"""	29104	protein-coding gene	gene with protein product							Standard	NM_014867		Approved	KIAA0711, KLHDC7C	uc003wpw.4	O94819	OTTHUMG00000163629	ENST00000320248.3:c.1437G>C	8.37:g.1950795G>C	ENSP00000321544:p.Glu479Asp						p.E479D	NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)	2	2403	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	479					Q3L1I0	Missense_Mutation	SNP	ENST00000320248.3	37	c.1437G>C	CCDS34795.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263502	0.59431	.	.	ENSG00000176595	ENST00000320248	T	0.13778	2.56	4.58	3.7	0.42460	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.69823	2.125	0.38283	D	0.942495	D	0.57257	0.979	P	0.55055	0.767	T	0.08126	-1.0737	10	0.62326	D	0.03	.	9.4969	0.38993	0.1657:0.0:0.8343:0.0	.	479	O94819	KBTBB_HUMAN	D	479	ENSP00000321544:E479D	ENSP00000321544:E479D	E	+	3	2	KBTBD11	1938202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	1.009000	0.39289	0.455000	0.32223	GAG		0.687	KBTBD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374601.1	NM_014867		6	6	0	0	0	1	0	6	6				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	33	0	0	0	1	0	23	33				
MUC5B	727897	broad.mit.edu	37	11	1265832	1265832	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000529681.1	+	31	7780	c.7722C>G	c.(7720-7722)gtC>gtG	p.V2574V	MUC5B_ENST00000447027.1_Silent_p.V2577V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|V -> A (in Ref. 4; CAA96577). {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)		CAGAGACTGTCCACACCTCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7729-7731)gtC>gtG		mucin 5B, oligomeric mucus/gel-forming							117.0	139.0	131.0					11																	1265832		2073	4189	6262	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265832C>G	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.7722C>G	11.37:g.1265832C>G						MUC5B_ENST00000529681.1_Silent_p.V2574V|RP11-532E4.2_ENST00000532061.2_RNA	p.V2577V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7789	+		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)	2574	Missing (in Ref. 6; AAB61398).		11 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.7731C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.913	-0.450152	0.04572	.	.	ENSG00000117983	ENST00000537836	.	.	.	2.44	2.44	0.29823	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34477	-0.9827	5	0.72032	D	0.01	.	8.3173	0.32108	0.0:1.0:0.0:0.0	.	.	.	.	C	118	.	ENSP00000440615:S118C	S	+	2	0	MUC5B	1222408	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-3.199000	0.00561	1.355000	0.45865	0.195000	0.17529	TCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		77	204	0	0	0	1	0	77	204				
PRR23B	389151	broad.mit.edu	37	3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(445-447)gCc>gGc		proline rich 23B							44.0	50.0	48.0					3																	138739058		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739058G>C	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.446C>G	3.37:g.138739058G>C	ENSP00000328768:p.Ala149Gly					MRPS22_ENST00000495075.1_Intron	p.A149G	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	710	-			149					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.446C>G	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379630	0.42207	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.05	-1.11	0.09840	.	1.397330	0.05141	N	0.494315	T	0.55114	0.1900	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.41431	-0.9509	9	0.44086	T	0.13	.	2.6307	0.04943	0.3861:0.0:0.3993:0.2146	.	149	Q6ZRT6	PR23B_HUMAN	G	149	.	ENSP00000328768:A149G	A	-	2	0	PRR23B	140221748	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.192000	0.32150	-0.254000	0.09500	0.456000	0.33151	GCC		0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	93	0	0	0	1	0	6	93				
SCRIB	23513	broad.mit.edu	37	8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000320476.3	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000356994.2_Missense_Mutation_p.L204V|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(610-612)Ctt>Gtt		scribbled planar cell polarity protein							14.0	16.0	16.0					8																	144895232		2185	4292	6477	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895232G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.610C>G	8.37:g.144895232G>C	ENSP00000322938:p.Leu204Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L204V	p.L204V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		7	616	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		204			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.610C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323403	0.60634	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.29917	1.55;1.55;1.55	4.28	3.38	0.38709	.	.	.	.	.	T	0.47581	0.1453	L	0.54863	1.705	0.53688	D	0.999974	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.44112	-0.9349	9	0.87932	D	0	.	10.3358	0.43850	0.1738:0.0:0.8262:0.0	.	204;204	Q14160;Q14160-3	SCRIB_HUMAN;.	V	204;204;123	ENSP00000349486:L204V;ENSP00000322938:L204V;ENSP00000366756:L123V	ENSP00000322938:L204V	L	-	1	0	SCRIB	144967220	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.526000	0.35964	0.865000	0.35603	0.563000	0.77884	CTT		0.627	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	14	0	0	0	1	0	5	14				
LRRC7	57554	broad.mit.edu	37	1	70144065	70144065	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	ENST00000370958.1	+	2	194	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393																																						ENST00000370958.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.e2-1		leucine rich repeat containing 7							17.0	16.0	16.0					1																	70144065		876	1990	2866	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70144065A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000370958.1:c.3-1A>G	1.37:g.70144065A>G						LRRC7_ENST00000310961.5_5'UTR	p.M2_splice			Q96NW7	LRRC7_HUMAN			2	194	+			0					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000370958.1	37	c.2_splice		.	.	.	.	.	.	.	.	.	.	A	11.72	1.721648	0.30503	.	.	ENSG00000033122	ENST00000370958	T	0.39406	1.08	6.17	6.17	0.99709	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.80722	D	1	B	0.16603	0.018	B	0.28553	0.091	T	0.15549	-1.0433	8	0.66056	D	0.02	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	2	B1AKT2	.	V	2	ENSP00000359997:M2V	ENSP00000359997:M2V	M	+	1	0	LRRC7	69916653	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.247000	0.58750	2.371000	0.80710	0.533000	0.62120	ATG		0.393	LRRC7-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131263.1	NM_020794	Missense_Mutation	7	3	0	0	0	1	0	7	3				
PSME4	23198	broad.mit.edu	37	2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A	rs369867748		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	ENST00000404125.1	-	28	3219	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1055					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3163-3165)gCg>gTg		proteasome (prosome, macropain) activator subunit 4		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	143.0	136.0	138.0		3164	5.6	1.0	2		138	0,8600		0,0,4300	no	missense	PSME4	NM_014614.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1055/1844	54128608	1,13005	2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54128608G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3164C>T	2.37:g.54128608G>A	ENSP00000384211:p.Ala1055Val					PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	p.A1055V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		28	3219	-			1055					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3164C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	36	5.828232	0.96996	2.27E-4	0.0	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.28255	1.62;1.68	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.954;0.932	T	0.50499	-0.8821	10	0.35671	T	0.21	.	19.6148	0.95629	0.0:0.0:1.0:0.0	.	430;199;1055	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	199;1055	ENSP00000410830:A199V;ENSP00000384211:A1055V	ENSP00000384211:A1055V	A	-	2	0	PSME4	53982112	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.939000	0.87685	2.634000	0.89283	0.557000	0.71058	GCG		0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	114	0	0	0	1	0	8	114				
PTPMT1	114971	broad.mit.edu	37	11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C	rs373652946		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	ENST00000326674.9	+	2	200	c.178G>C	c.(178-180)Gta>Cta	p.V60L	NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000534775.1_Missense_Mutation_p.G96A	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	60					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682																																						ENST00000534775.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(286-288)gGt>gCt		protein tyrosine phosphatase, mitochondrial 1							29.0	32.0	31.0					11																	47587461		2058	4203	6261	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47587461G>C	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.178G>C	11.37:g.47587461G>C	ENSP00000325958:p.Val60Leu					PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L|PTPMT1_ENST00000326674.9_Missense_Mutation_p.V60L	p.G96A			Q8WUK0	PTPM1_HUMAN			1	452	+			0					E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.287G>C	CCDS41643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.514044|3.514044	0.64522|0.64522	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000426530;ENST00000534775|ENST00000326656;ENST00000326674	.|T;T	.|0.51817	.|2.32;0.69	4.65|4.65	1.69|1.69	0.24217|0.24217	.|.	.|0.080378	.|0.49305	.|U	.|0.000152	T|T	0.36552|0.36552	0.0971|0.0971	L|L	0.49350|0.49350	1.555|1.555	0.42496|0.42496	D|D	0.992918|0.992918	D;D|P;B	0.67145|0.46277	0.996;0.996|0.875;0.207	P;P|B;B	0.62560|0.40256	0.904;0.904|0.324;0.129	T|T	0.11616|0.11616	-1.0580|-1.0580	8|10	0.87932|0.31617	D|T	0|0.26	-14.5094|-14.5094	8.4202|8.4202	0.32696|0.32696	0.3134:0.0:0.6866:0.0|0.3134:0.0:0.6866:0.0	.|.	96;96|60;60	E9PAT8;E9PQM0|Q8WUK0-2;Q8WUK0	.;.|.;PTPM1_HUMAN	A|L	96|60	.|ENSP00000325882:V60L;ENSP00000325958:V60L	ENSP00000410272:G96A|ENSP00000325882:V60L	G|V	+|+	2|1	0|0	PTPMT1|PTPMT1	47544037|47544037	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.972000|0.972000	0.66771|0.66771	2.294000|2.294000	0.43567|0.43567	0.565000|0.565000	0.29255|0.29255	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.682	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		3	59	0	0	0	1	0	3	59				
TECPR2	9895	broad.mit.edu	37	14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T	rs372433998		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	ENST00000359520.7	+	6	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(709-711)Cgg>Tgg		tectonin beta-propeller repeat containing 2			TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	103.0	100.0		709,709	1.5	0.1	14		100	0,8600		0,0,4300	no	missense,missense	TECPR2	NM_001172631.1,NM_014844.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	237/1268,237/1412	102891386	1,13005	2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102891386C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.709C>T	14.37:g.102891386C>T	ENSP00000352510:p.Arg237Trp					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W	p.R237W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			6	935	+			237					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.709C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.494247	0.44352	2.27E-4	0.0	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.26660	1.72	5.27	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.86268	2.805	0.32018	N	0.601142	D;D	0.71674	0.998;0.993	P;P	0.60286	0.715;0.872	T	0.66544	-0.5897	10	0.87932	D	0	.	14.7202	0.69300	0.78:0.22:0.0:0.0	.	237;237	A5PKY3;O15040	.;TCPR2_HUMAN	W	237	ENSP00000352510:R237W	ENSP00000352510:R237W	R	+	1	2	TECPR2	101961139	0.906000	0.30813	0.144000	0.22314	0.121000	0.20230	1.883000	0.39658	0.155000	0.19261	0.552000	0.68991	CGG		0.448	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		5	68	0	0	0	1	0	5	68				
PDCD7	10081	broad.mit.edu	37	15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(841-843)tGt>tCt		programmed cell death 7							60.0	58.0	59.0					15																	65425278		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425278C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.842G>C	15.37:g.65425278C>G	ENSP00000204549:p.Cys281Ser						p.C281S	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	896	-			281					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.842G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.819211	0.71028	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.2	3.2	0.36748	.	0.229150	0.39909	N	0.001237	T	0.61185	0.2327	M	0.63428	1.95	0.38644	D	0.951671	D	0.56968	0.978	P	0.50659	0.647	T	0.64071	-0.6493	9	0.23891	T	0.37	-12.1772	14.5046	0.67743	0.0:1.0:0.0:0.0	.	281	Q8N8D1	PDCD7_HUMAN	S	281;66;75	.	ENSP00000204549:C281S	C	-	2	0	PDCD7	63212331	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.988000	0.56951	1.772000	0.52199	0.306000	0.20318	TGT		0.667	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	75	0	0	0	1	0	4	75				
LRRC2	79442	broad.mit.edu	37	3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	ENST00000395905.3	-	5	982	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(589-591)tGt>tTt		leucine rich repeat containing 2							100.0	103.0	102.0					3																	46574300		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46574300C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.590G>T	3.37:g.46574300C>A	ENSP00000379241:p.Cys197Phe					LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	5	982	-		Ovarian(412;0.0563)	197					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.590G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367160	0.41902	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.16743	2.32;2.32	5.41	4.46	0.54185	.	0.314931	0.26995	N	0.021441	T	0.08313	0.0207	N	0.03967	-0.31	0.37025	D	0.896392	B	0.09022	0.002	B	0.10450	0.005	T	0.11155	-1.0599	10	0.72032	D	0.01	.	10.088	0.42430	0.4702:0.5298:0.0:0.0	.	197	Q9BYS8	LRRC2_HUMAN	F	197	ENSP00000379241:C197F;ENSP00000296144:C197F	ENSP00000296144:C197F	C	-	2	0	LRRC2	46549304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.018000	0.57174	1.349000	0.45751	0.563000	0.77884	TGT		0.368	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	94	1	0	3.59834e-05	1	3.64507e-05	5	94				
PCDHA9	9752	broad.mit.edu	37	5	140242564	140242564	+	Intron	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140242564G>C	ENST00000532602.1	+	1	3427				PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.P138A|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTTGGTGGCGAAGGTGCG	0.642																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(412-414)Cca>Gca																																						SO:0001627	intron_variant	0							g.chr5:140242564G>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12090G>C	5.37:g.140242564G>C						PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron	p.P138A							1	660	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.412C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	g	4.745	0.138620	0.09083	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.02	2.23	0.28157	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	P	0.39326	0.668	B	0.39935	0.314	T	0.34750	-0.9816	7	0.87932	D	0	.	5.1193	0.14852	0.1731:0.0:0.6604:0.1665	.	138	Q8NB83	.	A	138	.	ENSP00000424817:P138A	P	-	1	0	AC005609.17	140222748	0.062000	0.20869	1.000000	0.80357	0.019000	0.09904	0.076000	0.14712	0.365000	0.24400	-0.678000	0.03780	CCA		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	17	0	0	0	1	0	7	17				
ADCY1	107	broad.mit.edu	37	7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCATAACATCGAAACCTTTTT	0.483																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1414-1416)Gaa>Aaa		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						169.0	149.0	155.0					7																	45699747		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45699747G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1414G>A	7.37:g.45699747G>A	ENSP00000297323:p.Glu472Lys					ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	p.E472K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			7	1436	+			472					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1414G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362747	0.41902	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.81330	-1.48;-1.48	5.5	3.63	0.41609	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.052090	0.85682	N	0.000000	T	0.59865	0.2225	N	0.16266	0.395	0.58432	D	0.999998	P;B	0.46277	0.875;0.251	B;B	0.38106	0.265;0.04	T	0.55742	-0.8093	10	0.10377	T	0.69	.	8.6348	0.33941	0.2001:0.0:0.7999:0.0	.	472;247	Q08828;C9J1J0	ADCY1_HUMAN;.	K	247;472;472	ENSP00000392721:E247K;ENSP00000297323:E472K	ENSP00000297323:E472K	E	+	1	0	ADCY1	45666272	1.000000	0.71417	0.642000	0.29436	0.508000	0.34012	7.299000	0.78831	0.612000	0.30071	0.551000	0.68910	GAA		0.483	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	48	0	0	0	1	0	17	48				
MUC3A	4584	broad.mit.edu	37	7	100551833	100551833	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100551833C>A	ENST00000319509.7	+	1	584	c.584C>A	c.(583-585)aCt>aAt	p.T195N				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1860	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTCAAACAACTCCTTCTACT	0.438																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(583-585)aCt>aAt		mucin 3A, cell surface associated							618.0	599.0	605.0					7																	100551833		876	1991	2867	SO:0001583	missense	4584							g.chr7:100551833C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.584C>A	7.37:g.100551833C>A	ENSP00000324834:p.Thr195Asn						p.T195N							1	584	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.584C>A		.	.	.	.	.	.	.	.	.	.	C	3.403	-0.121862	0.06795	.	.	ENSG00000169894	ENST00000319509	T	0.10005	2.92	1.14	-2.27	0.06846	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.31024	N	0.717955	B	0.15719	0.014	B	0.08055	0.003	T	0.35871	-0.9771	8	0.33940	T	0.23	.	9.3747	0.38275	0.0:0.7697:0.2302:0.0	.	1860	Q02505	MUC3A_HUMAN	N	195	ENSP00000324834:T195N	ENSP00000324834:T195N	T	+	2	0	MUC3A	100389769	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.649000	0.24843	-0.889000	0.03950	-0.778000	0.03378	ACT		0.438	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		17	488	1	0	8.60227e-14	1	8.82865e-14	17	488				
PXDN	7837	broad.mit.edu	37	2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3406-3408)aaC>aaG		peroxidasin homolog (Drosophila)							46.0	56.0	53.0					2																	1652144		2063	4220	6283	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652144G>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3408C>G	2.37:g.1652144G>C	ENSP00000252804:p.Asn1136Lys						p.N1136K	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3458	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1136					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3408C>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139591	0.56936	.	.	ENSG00000130508	ENST00000252804	T	0.67698	-0.28	5.48	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.84846	2.72	0.50171	D	0.999858	D	0.69078	0.997	D	0.71656	0.974	T	0.79645	-0.1717	10	0.72032	D	0.01	-57.6139	6.2788	0.20995	0.3798:0.0:0.6202:0.0	.	1136	Q92626	PXDN_HUMAN	K	1136	ENSP00000252804:N1136K	ENSP00000252804:N1136K	N	-	3	2	PXDN	1631151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.096000	0.41738	1.330000	0.45394	0.650000	0.86243	AAC		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		21	71	0	0	0	1	0	21	71				
TTN	7273	broad.mit.edu	37	2	179615597	179615597	+	Intron	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.A3844P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GTAGTATTGGCCATAATTTCT	0.373																																						ENST00000360870.5																			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.(11530-11532)Gcc>Ccc		titin							100.0	105.0	103.0					2																	179615597		2202	4299	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615597C>G	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.10360+2253G>C	2.37:g.179615597C>G						TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	p.A3844P	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11752	-			9679					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.11530G>C		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478109	0.44044	.	.	ENSG00000155657	ENST00000360870	T	0.58358	0.34	5.4	0.135	0.14775	.	.	.	.	.	T	0.32941	0.0846	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21552	-1.0242	9	0.44086	T	0.13	.	9.336	0.38051	0.0:0.4602:0.0:0.5398	.	3844	Q8WZ42-6	.	P	3844	ENSP00000354117:A3844P	ENSP00000354117:A3844P	A	-	1	0	TTN	179323842	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.680000	0.25306	0.064000	0.16427	-0.345000	0.07892	GCC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	70	0	0	0	1	0	24	70				
TBC1D1	23216	broad.mit.edu	37	4	38091702	38091702	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	ENST00000261439.4	+	13	2555	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_ENST00000508802.1_Silent_p.L828L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	734					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2200-2202)Ctg>Ttg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							94.0	88.0	90.0					4																	38091702		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38091702C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2200C>T	4.37:g.38091702C>T						TBC1D1_ENST00000508802.1_Silent_p.L828L	p.L734L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			13	2555	+			734					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.2200C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044312	0.19748	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.91	5.06	0.68205	.	.	.	.	.	T	0.69682	0.3138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67098	-0.5756	4	.	.	.	-21.5312	14.496	0.67688	0.0:0.9304:0.0:0.0696	.	.	.	.	V	421	.	.	A	+	2	0	TBC1D1	37768097	1.000000	0.71417	0.919000	0.36401	0.959000	0.62525	5.367000	0.66127	2.793000	0.96121	0.655000	0.94253	GCT		0.468	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	130	0	0	0	1	0	6	130				
GHITM	27069	broad.mit.edu	37	10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(100-102)aaG>aaC		growth hormone inducible transmembrane protein							127.0	119.0	122.0					10																	85901358		1862	4109	5971	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901358G>C	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.102G>C	10.37:g.85901358G>C	ENSP00000361207:p.Lys34Asn						p.K34N	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			2	295	+			34					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.102G>C	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306885	0.60305	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.16	3.24	0.37175	.	0.675510	0.15403	N	0.264189	T	0.39809	0.1092	L	0.41236	1.265	0.34324	D	0.686942	B	0.21452	0.056	B	0.23419	0.046	T	0.43032	-0.9416	9	0.28530	T	0.3	-32.3412	6.1528	0.20320	0.2066:0.0:0.6621:0.1313	.	34	Q9H3K2	GHITM_HUMAN	N	34;21;34;34	.	ENSP00000342214:K34N	K	+	3	2	GHITM	85891338	0.998000	0.40836	0.381000	0.26106	0.816000	0.46133	1.587000	0.36622	0.943000	0.37553	0.650000	0.86243	AAG		0.448	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		33	77	0	0	0	1	0	33	77				
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2683-2685)tcG>tcA		nucleoporin 153kDa							62.0	67.0	65.0					6																	17629745		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629745C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2685G>A	6.37:g.17629745C>T						NUP153_ENST00000537253.1_Silent_p.S926S	p.S895S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	2684	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	895					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.2685G>A	CCDS4541.1																																																																																				0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			32	40	0	0	0	1	0	32	40				
NKX2-2	4821	broad.mit.edu	37	20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(676-678)Gcc>Acc		NK2 homeobox 2							37.0	40.0	39.0					20																	21492707		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492707C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.676G>A	20.37:g.21492707C>T	ENSP00000366347:p.Ala226Thr					NKX2-2-AS1_ENST00000549659.1_RNA	p.A226T	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	1032	-			226						Missense_Mutation	SNP	ENST00000377142.4	37	c.676G>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966794	0.53507	.	.	ENSG00000125820	ENST00000377142	D	0.91124	-2.79	5.35	4.41	0.53225	.	0.051682	0.85682	N	0.000000	T	0.81123	0.4757	L	0.32530	0.975	0.45452	D	0.998425	P	0.40107	0.703	B	0.23150	0.044	T	0.78763	-0.2077	10	0.18710	T	0.47	.	13.8673	0.63596	0.0:0.9262:0.0:0.0738	.	226	O95096	NKX22_HUMAN	T	226	ENSP00000366347:A226T	ENSP00000366347:A226T	A	-	1	0	NKX2-2	21440707	0.999000	0.42202	0.957000	0.39632	0.988000	0.76386	4.031000	0.57267	1.247000	0.43917	0.462000	0.41574	GCC		0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			4	109	0	0	0	1	0	4	109				
CD163L1	283316	broad.mit.edu	37	12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3484-3486)Ggg>Agg		CD163 molecule-like 1							139.0	146.0	143.0					12																	7526162		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526162C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3484G>A	12.37:g.7526162C>T	ENSP00000315945:p.Gly1162Arg					CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R	p.G1162R			Q9NR16	C163B_HUMAN			14	3541	-			1162			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3484G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423964	0.62733	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36699	1.24;1.24;1.24	2.28	1.36	0.22044	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.33610	U	0.004740	T	0.59514	0.2199	M	0.86651	2.83	0.31273	N	0.691481	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.64127	-0.6480	10	0.87932	D	0	.	8.8761	0.35345	0.0:0.7668:0.2332:0.0	.	1172;1162	E7EVK4;Q9NR16	.;C163B_HUMAN	R	1162;1172;1162	ENSP00000315945:G1162R;ENSP00000393474:G1172R;ENSP00000379871:G1162R	ENSP00000315945:G1162R	G	-	1	0	CD163L1	7417429	0.688000	0.27680	0.002000	0.10522	0.521000	0.34408	2.581000	0.46077	0.497000	0.27926	0.557000	0.71058	GGG		0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		126	186	0	0	0	1	0	126	186				
LGR4	55366	broad.mit.edu	37	11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	ENST00000379214.4	-	18	3180	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	913					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2737-2739)Gat>Cat		leucine-rich repeat containing G protein-coupled receptor 4							76.0	77.0	77.0					11																	27389533		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389533C>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2737G>C	11.37:g.27389533C>G	ENSP00000368516:p.Asp913His					LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	p.D913H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	3180	-			913					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2737G>C	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237248	0.79800	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.63255	-0.03;0.07	5.78	5.78	0.91487	.	0.045651	0.85682	D	0.000000	T	0.71451	0.3341	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73304	-0.4025	10	0.62326	D	0.03	.	20.005	0.97433	0.0:1.0:0.0:0.0	.	889;913	G5E9B3;Q9BXB1	.;LGR4_HUMAN	H	913;889	ENSP00000368516:D913H;ENSP00000374508:D889H	ENSP00000368516:D913H	D	-	1	0	LGR4	27346109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.745000	0.94114	0.555000	0.69702	GAT		0.532	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		4	136	0	0	0	1	0	4	136				
CD58	965	broad.mit.edu	37	1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000369489.5	-	1	115	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000457047.2_Missense_Mutation_p.V17L|CD58_ENST00000369487.3_Missense_Mutation_p.V17L	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(49-51)Gtc>Ctc		CD58 molecule							7.0	12.0	11.0					1																	117113546		2135	4192	6327	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117113546C>G	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.49G>C	1.37:g.117113546C>G	ENSP00000358501:p.Val17Leu					CD58_ENST00000369489.5_Missense_Mutation_p.V17L|CD58_ENST00000369487.3_Missense_Mutation_p.V17L	p.V17L	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	1	102	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	17					A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.49G>C	CCDS888.1	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344834	0.05208	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.22336	1.96;1.96;1.96	1.73	-3.47	0.04753	.	16.472600	0.00166	N	0.000001	T	0.02533	0.0077	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25272	0.103;0.122;0.103	B;B;B	0.25140	0.04;0.036;0.058	T	0.33111	-0.9881	10	0.06099	T	0.92	.	1.9754	0.03415	0.4204:0.3214:0.1372:0.121	.	17;17;17	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	L	17	ENSP00000358501:V17L;ENSP00000409080:V17L;ENSP00000358499:V17L	ENSP00000358499:V17L	V	-	1	0	CD58	116915069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.863000	0.00347	-3.150000	0.00231	-2.699000	0.00136	GTC		0.741	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		3	5	0	0	0	1	0	3	5				
USP40	55230	broad.mit.edu	37	2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000427112.2	-	13	1780	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000251722.6_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1744-1746)gAc>gGc		ubiquitin specific peptidase 40							140.0	131.0	134.0					2																	234434186		1862	4110	5972	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234434186T>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1745A>G	2.37:g.234434186T>C	ENSP00000387898:p.Asp582Gly					USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000427112.2_Missense_Mutation_p.D582G	p.D582G			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	14	1862	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	582					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1745A>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516955	0.64634	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.08458	3.09;3.09;3.09	5.78	5.78	0.91487	.	2.198680	0.02077	N	0.052030	T	0.19327	0.0464	M	0.66939	2.045	0.58432	D	0.999998	B;B	0.25272	0.074;0.122	B;B	0.26094	0.03;0.066	T	0.29212	-1.0019	10	0.62326	D	0.03	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	582;594	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	G	594;582;582	ENSP00000415434:D594G;ENSP00000251722:D582G;ENSP00000387898:D582G	ENSP00000251722:D582G	D	-	2	0	USP40	234098925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.200000	0.70718	0.460000	0.39030	GAC		0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		26	64	0	0	0	1	0	26	64				
SON	6651	broad.mit.edu	37	21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(5500-5502)cAc>cGc		SON DNA binding protein							86.0	87.0	86.0					21																	34927038		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927038A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5501A>G	21.37:g.34927038A>G	ENSP00000348984:p.His1834Arg					SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R	p.H1834R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	5976	+			1834					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5501A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.73|10.73	1.433765|1.433765	0.25813|0.25813	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.22322|0.22322	0.0538|0.0538	N|N	0.08118|0.08118	0|0	0.32412|0.32412	N|N	0.550485|0.550485	B;B;B;P;D|.	0.76494|.	0.42;0.158;0.244;0.756;0.999|.	B;B;B;P;D|.	0.80764|.	0.294;0.066;0.087;0.59;0.994|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.30078|.	T|.	0.28|.	.|.	5.674|5.674	0.17737|0.17737	0.7375:0.1735:0.089:0.0|0.7375:0.1735:0.089:0.0	.|.	1834;1834;1515;1834;1834|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	R|A	1834|829	ENSP00000348984:H1834R;ENSP00000290239:H1834R;ENSP00000300278:H1834R;ENSP00000371095:H1834R|.	ENSP00000290239:H1834R|.	H|T	+|+	2|1	0|0	SON|SON	33848908|33848908	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.148000|2.148000	0.42235|0.42235	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.423	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	71	0	0	0	1	0	4	71				
AP5S1	55317	broad.mit.edu	37	20	3802937	3802937	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:3802937C>T	ENST00000246041.2	+	2	392	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000379573.2_Missense_Mutation_p.A58V			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	58					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											TTAGCTGTGGCCAGGTAACCA	0.547																																						ENST00000379573.2																			0											c.(172-174)gCc>gTc		adaptor-related protein complex 5, sigma 1 subunit							51.0	49.0	50.0					20																	3802937		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3802937C>T	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.173C>T	20.37:g.3802937C>T	ENSP00000246041:p.Ala58Val					AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000246041.2_Missense_Mutation_p.A58V	p.A58V	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN			2	417	+			58					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.173C>T	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985301	0.93044	.	.	ENSG00000125843	ENST00000379573;ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.70275	2.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79087	-0.1947	9	0.72032	D	0.01	-21.4516	14.3066	0.66389	0.0:1.0:0.0:0.0	.	58	Q9NUS5	CT029_HUMAN	V	58	.	ENSP00000246041:A58V	A	+	2	0	C20orf29	3750937	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.141000	0.58038	2.756000	0.94617	0.561000	0.74099	GCC		0.547	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		23	62	0	0	0	1	0	23	62				
ATP10A	57194	broad.mit.edu	37	15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2866-2868)tCt>tGt		ATPase, class V, type 10A							131.0	118.0	122.0					15																	25940187		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940187G>C	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2867C>G	15.37:g.25940187G>C	ENSP00000349325:p.Ser956Cys						p.S956C	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	2978	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	956					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2867C>G	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289387	0.40494	.	.	ENSG00000206190	ENST00000356865	D	0.83075	-1.68	4.54	3.62	0.41486	HAD-like domain (1);	0.361824	0.35436	N	0.003209	D	0.84597	0.5507	L	0.60455	1.87	0.09310	N	0.999991	P	0.48911	0.917	P	0.51918	0.684	T	0.77619	-0.2520	10	0.59425	D	0.04	-3.0809	12.5781	0.56375	0.0807:0.0:0.9193:0.0	.	956	O60312	AT10A_HUMAN	C	956	ENSP00000349325:S956C	ENSP00000349325:S956C	S	-	2	0	ATP10A	23491280	0.984000	0.35163	0.013000	0.15412	0.317000	0.28152	4.355000	0.59424	1.138000	0.42230	-0.251000	0.11542	TCT		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		26	116	0	0	0	1	0	26	116				
PHB2	11331	broad.mit.edu	37	12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q|PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(316-318)cTg>cAg		prohibitin 2							65.0	65.0	65.0					12																	7077734		2061	4206	6267	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077734A>T	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.317T>A	12.37:g.7077734A>T	ENSP00000441875:p.Leu106Gln					PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q	p.L106Q	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			4	598	-			106						Missense_Mutation	SNP	ENST00000535923.1	37	c.317T>A	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900618	0.92035	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.31	5.31	0.75309	.	0.097329	0.42964	U	0.000629	D	0.97980	0.9335	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.992	D	0.99278	1.0895	10	0.87932	D	0	-9.955	15.5626	0.76262	1.0:0.0:0.0:0.0	.	106;106;106	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	106;106;106;106;142;117	ENSP00000441875:L106Q;ENSP00000440317:L106Q;ENSP00000382362:L106Q;ENSP00000412856:L106Q;ENSP00000441662:L142Q;ENSP00000439029:L117Q	ENSP00000382362:L106Q	L	-	2	0	PHB2	6947995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.134000	0.65973	0.533000	0.62120	CTG		0.532	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		13	38	0	0	0	1	0	13	38				
PCDH7	5099	broad.mit.edu	37	4	30723437	30723437	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(391-393)gtC>gtG		protocadherin 7							56.0	42.0	47.0					4																	30723437		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723437C>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.393C>G	4.37:g.30723437C>G						PCDH7_ENST00000543491.1_Silent_p.V131V	p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1401	+			131			Cadherin 1.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.393C>G	CCDS33971.1																																																																																				0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		9	13	0	0	0	1	0	9	13				
MYF5	4617	broad.mit.edu	37	12	81111280	81111280	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(436-438)taT>taC		myogenic factor 5							117.0	124.0	122.0					12																	81111280		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111280T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.438T>C	12.37:g.81111280T>C							p.Y146Y	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	590	+			146					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.438T>C	CCDS9020.1																																																																																				0.577	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		102	172	0	0	0	1	0	102	172				
ZNF71	58491	broad.mit.edu	37	19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	ENST00000328070.6	+	3	1556	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1321-1323)gGc>gCc		zinc finger protein 71							70.0	59.0	63.0					19																	57133977		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133977G>C	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1322G>C	19.37:g.57133977G>C	ENSP00000328245:p.Gly441Ala						p.G441A	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1556	+			441					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1322G>C	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407197	0.25378	.	.	ENSG00000197951	ENST00000328070	T	0.07114	3.22	3.82	-7.65	0.01281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46233	-0.9206	9	0.45353	T	0.12	.	8.9373	0.35708	0.3392:0.5311:0.1297:0.0	.	441	Q9NQZ8	ZNF71_HUMAN	A	441	ENSP00000328245:G441A	ENSP00000328245:G441A	G	+	2	0	ZNF71	61825789	0.000000	0.05858	0.022000	0.16811	0.734000	0.41952	-3.443000	0.00469	-0.877000	0.04012	0.561000	0.74099	GGC		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		5	63	0	0	0	1	0	5	63				
ANXA7	310	broad.mit.edu	37	10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.5	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	184					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378																																						ENST00000372921.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(484-486)aaC>aaG		annexin A7							110.0	106.0	107.0					10																	75148122		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75148122G>C	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.486C>G	10.37:g.75148122G>C	ENSP00000362012:p.Asn162Lys					ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	p.N162K	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			6	542	-	Prostate(51;0.0119)		184					Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.486C>G	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950011	0.53186	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.05081	3.5;3.5;3.5	5.87	3.04	0.35103	.	0.120897	0.56097	D	0.000026	T	0.03959	0.0111	N	0.08118	0	0.48901	D	0.999722	B;B;B;B;B	0.33512	0.291;0.155;0.107;0.415;0.107	B;B;B;B;B	0.35240	0.097;0.097;0.039;0.198;0.058	T	0.51710	-0.8671	10	0.62326	D	0.03	.	9.5114	0.39078	0.2305:0.0:0.7695:0.0	.	162;162;89;162;184	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	K	162;184;32	ENSP00000362012:N162K;ENSP00000362010:N184K;ENSP00000442864:N32K	ENSP00000362010:N184K	N	-	3	2	ANXA7	74818128	1.000000	0.71417	0.968000	0.41197	0.972000	0.66771	2.612000	0.46343	0.399000	0.25367	0.650000	0.86243	AAC		0.378	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		21	46	0	0	0	1	0	21	46				
MUC16	94025	broad.mit.edu	37	19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	ENST00000397910.4	-	3	17086	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5630	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAGCTGGTTTCTTCCAC	0.537																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16882-16884)aCc>aGc		mucin 16, cell surface associated							67.0	67.0	67.0					19																	9070563		1922	4127	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070563G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16883C>G	19.37:g.9070563G>C	ENSP00000381008:p.Thr5628Ser						p.T5628S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17086	-			5630			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16883C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.542	-0.093555	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	1.41	-1.33	0.09172	.	.	.	.	.	T	0.14485	0.0350	L	0.29908	0.895	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.24584	-1.0156	8	0.87932	D	0	.	2.5324	0.04706	0.2499:0.31:0.4401:0.0	.	5628	B5ME49	.	S	5628	ENSP00000381008:T5628S	ENSP00000381008:T5628S	T	-	2	0	MUC16	8931563	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.051000	0.11885	-0.293000	0.08986	0.306000	0.20318	ACC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	47	0	0	0	1	0	3	47				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	155	0	0	0	1	0	7	155				
MYO1F	4542	broad.mit.edu	37	19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(547-549)Gat>Cat		myosin IF							101.0	103.0	102.0					19																	8617006		1975	4196	6171	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8617006C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.547G>C	19.37:g.8617006C>G	ENSP00000344871:p.Asp183His						p.D183H	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			7	814	-			183			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.547G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557587	0.65425	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87103	-2.21	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	M	0.71036	2.16	0.80722	D	1	P;D;D	0.64830	0.923;0.987;0.994	P;D;D	0.64687	0.796;0.928;0.928	D	0.89949	0.4078	10	0.27082	T	0.32	.	15.1284	0.72500	0.0:1.0:0.0:0.0	.	183;183;183	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	H	228;183	ENSP00000344871:D183H	ENSP00000304899:D228H	D	-	1	0	MYO1F	8523006	1.000000	0.71417	0.434000	0.26772	0.682000	0.39822	7.651000	0.83577	2.048000	0.60808	0.460000	0.39030	GAT		0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			78	124	0	0	0	1	0	78	124				
LMBRD2	92255	broad.mit.edu	37	5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(964-966)cGa>cAa		LMBR1 domain containing 2							80.0	77.0	78.0					5																	36122537		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36122537C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.965G>A	5.37:g.36122537C>T	ENSP00000296603:p.Arg322Gln						p.R322Q	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1427	-	all_lung(31;0.000146)		322					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.965G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860174	0.91433	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.29397	1.57	5.6	5.6	0.85130	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.84585	2.705	0.80722	D	1	P	0.39903	0.694	B	0.30716	0.119	T	0.52571	-0.8558	10	0.59425	D	0.04	-7.2998	19.6061	0.95582	0.0:1.0:0.0:0.0	.	322	Q68DH5	LMBD2_HUMAN	Q	322;216	ENSP00000296603:R322Q	ENSP00000296603:R322Q	R	-	2	0	LMBRD2	36158294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	2.600000	0.87896	0.650000	0.86243	CGA		0.408	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		21	37	0	0	0	1	0	21	37				
SRSF4	6429	broad.mit.edu	37	1	29476672	29476672	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:29476672C>G	ENST00000373795.4	-	5	845	c.611G>C	c.(610-612)aGc>aCc	p.S204T	SRSF4_ENST00000466448.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	204	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGCTTCTGCTCTTACGGGA	0.458																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(610-612)aGc>aCc		serine/arginine-rich splicing factor 4							199.0	196.0	197.0					1																	29476672		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29476672C>G	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.611G>C	1.37:g.29476672C>G	ENSP00000362900:p.Ser204Thr					SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	p.S204T	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			5	845	-			204			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.611G>C	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819444	0.71028	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46063	0.88	5.36	5.36	0.76844	.	0.078056	0.85682	D	0.000000	T	0.63046	0.2478	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.63765	-0.6563	10	0.56958	D	0.05	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	204	Q08170	SRSF4_HUMAN	T	204	ENSP00000362900:S204T	ENSP00000362900:S204T	S	-	2	0	SRSF4	29349259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGC		0.458	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		17	191	0	0	0	1	0	17	191				
VPS13B	157680	broad.mit.edu	37	8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8215-8217)Caa>Gaa		vacuolar protein sorting 13 homolog B (yeast)							77.0	78.0	78.0					8																	100829810		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100829810C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8215C>G	8.37:g.100829810C>G	ENSP00000351346:p.Gln2739Glu					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	p.Q2739E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		45	8326	+	Breast(36;3.73e-07)		2739					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8215C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	7.401	0.632724	0.14322	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.61	3.76	0.43208	.	0.199496	0.41294	N	0.000903	T	0.44307	0.1287	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35549	-0.9784	10	0.07175	T	0.84	.	16.7969	0.85604	0.0:0.4499:0.5501:0.0	.	2714;2739	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	2714;2739	ENSP00000349685:Q2714E;ENSP00000351346:Q2739E	ENSP00000349685:Q2714E	Q	+	1	0	VPS13B	100898986	0.655000	0.27376	1.000000	0.80357	0.996000	0.88848	0.788000	0.26872	0.794000	0.33899	0.655000	0.94253	CAA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		24	54	0	0	0	1	0	24	54				
MACF1	23499	broad.mit.edu	37	1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000372915.3	+	50	13154	c.13067C>G	c.(13066-13068)tCt>tGt	p.S4356C	MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S4351C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13051-13053)tCt>tGt		microtubule-actin crosslinking factor 1							70.0	70.0	70.0					1																	39835815		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39835815C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13067C>G	1.37:g.39835815C>G	ENSP00000362006:p.Ser4356Cys					MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.S4356C	p.S4351C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		51	13829	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4356					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13052C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.05|18.05	3.536620|3.536620	0.65085|0.65085	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.37584	.|1.19;1.19;1.19;1.19;1.19;1.19	5.37|5.37	3.04|3.04	0.35103|0.35103	.|.	.|0.519939	.|0.17436	.|N	.|0.174305	T|T	0.46171|0.46171	0.1379|0.1379	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.63046	.|0.965;0.96;0.992;0.984	.|P;P;P;P	.|0.61003	.|0.838;0.819;0.819;0.882	T|T	0.40384|0.40384	-0.9566|-0.9566	5|10	.|0.56958	.|D	.|0.05	.|.	4.8088|4.8088	0.13333|0.13333	0.0:0.5307:0.0:0.4693|0.0:0.5307:0.0:0.4693	.|.	.|4356;2289;2289;2254	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	L|C	1422|2289;4356;2289;2289;2289;2791	.|ENSP00000439537:S2289C;ENSP00000362006:S4356C;ENSP00000354573:S2289C;ENSP00000313438:S2289C;ENSP00000444364:S2289C;ENSP00000289893:S2791C	.|ENSP00000289893:S2791C	F|S	+|+	3|2	2|0	MACF1|MACF1	39608402|39608402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.862000|2.862000	0.48388|0.48388	0.887000|0.887000	0.36136|0.36136	-0.302000|-0.302000	0.09304|0.09304	TTC|TCT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	30	0	0	0	1	0	14	30				
TNFSF8	944	broad.mit.edu	37	9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	ENST00000223795.2	-	4	508	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	132					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(394-396)gTg>gCg		tumor necrosis factor (ligand) superfamily, member 8							151.0	145.0	147.0					9																	117666521		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666521A>G	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.395T>C	9.37:g.117666521A>G	ENSP00000223795:p.Val132Ala					TNFSF8_ENST00000474301.1_5'UTR	p.V132A	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	508	-			132					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.395T>C	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933388	0.73442	.	.	ENSG00000106952	ENST00000223795	D	0.95307	-3.67	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.249660	0.28809	N	0.014068	D	0.92873	0.7733	L	0.27053	0.805	0.32845	D	0.505822	P	0.51240	0.943	P	0.52066	0.689	D	0.95091	0.8222	10	0.72032	D	0.01	-8.4852	13.3596	0.60648	1.0:0.0:0.0:0.0	.	132	P32971	TNFL8_HUMAN	A	132	ENSP00000223795:V132A	ENSP00000223795:V132A	V	-	2	0	TNFSF8	116706342	1.000000	0.71417	0.944000	0.38274	0.968000	0.65278	4.730000	0.62015	2.148000	0.66965	0.533000	0.62120	GTG		0.408	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			4	132	0	0	0	1	0	4	132				
TDRKH	11022	broad.mit.edu	37	1	151742722	151742722	+	IGR	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	ENST00000368827.6	-	0	2318				OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R|OAZ3_ENST00000479764.1_Missense_Mutation_p.G3R|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q	NM_006862.3	NP_006853.2	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAATGATCGGAACGACAGA	0.473																																						ENST00000479764.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9						c.(7-9)Gga>Aga		ornithine decarboxylase antizyme 3	L-Ornithine(DB00129)						305.0	308.0	307.0					1																	151742722		1965	4164	6129	SO:0001628	intergenic_variant	51686				cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	g.chr1:151742722G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062		1.37:g.151742722G>A						OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R|OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q	p.G3R			Q9UMX2	OAZ3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	3523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		0					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368827.6	37	c.7G>A	CCDS41394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.086588|4.086588	0.76642|0.76642	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000400999|ENST00000315067;ENST00000321531	.|T	.|0.44881	.|0.91	5.43|5.43	3.52|3.52	0.40303|0.40303	.|Acyl-CoA N-acyltransferase (1);	.|0.268702	.|0.26650	.|N	.|0.023201	T|T	0.39682|0.39682	0.1087|0.1087	M|M	0.69823|0.69823	2.125|2.125	0.39035|0.39035	D|D	0.960011|0.960011	.|D;D	.|0.64830	.|0.98;0.994	.|P;P	.|0.55222	.|0.687;0.771	T|T	0.39502|0.39502	-0.9611|-0.9611	6|10	0.87932|0.56958	D|D	0|0.05	-8.7076|-8.7076	7.7737|7.7737	0.29023|0.29023	0.0863:0.1619:0.7518:0.0|0.0863:0.1619:0.7518:0.0	.|.	.|120;137	.|D3DV23;Q9UMX2	.|.;OAZ3_HUMAN	R|Q	3|140;184	.|ENSP00000357820:R140Q	ENSP00000383784:G3R|ENSP00000357820:R140Q	G|R	+|+	1|2	0|0	OAZ3|OAZ3	150009346|150009346	0.465000|0.465000	0.25815|0.25815	0.270000|0.270000	0.24601|0.24601	0.882000|0.882000	0.50991|0.50991	3.442000|3.442000	0.52900|0.52900	0.824000|0.824000	0.34613|0.34613	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.473	TDRKH-002	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036645.3	NM_006862		11	311	0	0	0	1	0	11	311				
FAM71B	153745	broad.mit.edu	37	5	156593086	156593086	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	ENST00000302938.4	-	1	189	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	32						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(94-96)Ttg>Ctg		family with sequence similarity 71, member B							143.0	137.0	139.0					5																	156593086		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156593086A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.94T>C	5.37:g.156593086A>G							p.L32L	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	189	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	32					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.94T>C	CCDS4335.1																																																																																				0.403	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		4	123	0	0	0	1	0	4	123				
PFKFB3	5209	broad.mit.edu	37	10	6257194	6257194	+	Silent	SNP	C	C	G	rs374201933		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000379785.1_Silent_p.V71V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000317350.4_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(211-213)gtC>gtG		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							67.0	51.0	56.0					10																	6257194		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6257194C>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.213C>G	10.37:g.6257194C>G						PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000317350.4_Silent_p.V71V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000379785.1_Silent_p.V71V	p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			3	543	+			71			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.213C>G	CCDS7078.1																																																																																				0.577	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			13	35	0	0	0	1	0	13	35				
POU2F1	5451	broad.mit.edu	37	1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	ENST00000541643.3	+	17	2290	c.2128C>G	c.(2128-2130)Cac>Gac	p.H710D	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.H722D|POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	710					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2164-2166)Cac>Gac		POU class 2 homeobox 1							166.0	156.0	159.0					1																	167384943		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384943C>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2128C>G	1.37:g.167384943C>G	ENSP00000441285:p.His710Asp					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.H710D	p.H722D	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2399	+			710					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2164C>G		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530191	0.64860	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86497	-2.13;-2.1;-2.12;-2.11;-2.11	5.38	5.38	0.77491	.	2.727660	0.01182	N	0.007111	D	0.83294	0.5223	L	0.47716	1.5	0.42845	D	0.994067	B;B;B;B	0.33103	0.276;0.397;0.397;0.118	B;B;B;B	0.33960	0.025;0.055;0.173;0.025	T	0.68100	-0.5498	9	0.72032	D	0.01	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	670;722;708;710	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	733;670;708;710;722	ENSP00000356840:H733D;ENSP00000401217:H670D;ENSP00000356839:H708D;ENSP00000441285:H710D;ENSP00000356836:H722D	ENSP00000356836:H722D	H	+	1	0	POU2F1	165651567	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.181000	0.77682	2.793000	0.96121	0.655000	0.94253	CAC		0.617	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		13	363	0	0	0	1	0	13	363				
LAMA3	3909	broad.mit.edu	37	18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	ENST00000313654.9	+	34	4583	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1448	Domain III B.|Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTGGACCCAGCCAATCTCAA	0.413																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4342-4344)Gcc>Ccc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						166.0	152.0	156.0					18																	21438713		1920	4134	6054	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21438713G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4342G>C	18.37:g.21438713G>C	ENSP00000324532:p.Ala1448Pro					LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			34	4583	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1448			Domain III B.|Laminin EGF-like 12.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4342G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773960	0.69992	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62105	0.05;0.05	5.47	2.11	0.27256	EGF-like, laminin (4);Growth factor, receptor (1);	.	.	.	.	T	0.68229	0.2978	M	0.89214	3.015	0.58432	D	0.999999	P;P	0.52316	0.952;0.849	P;P	0.51701	0.677;0.56	T	0.64909	-0.6296	9	0.30854	T	0.27	.	2.6741	0.05076	0.3148:0.0:0.2881:0.3972	.	1448;1448	Q6VU67;Q16787	.;LAMA3_HUMAN	P	1448;1448;1446	ENSP00000324532:A1448P;ENSP00000382432:A1448P	ENSP00000324532:A1448P	A	+	1	0	LAMA3	19692711	0.296000	0.24398	0.965000	0.40720	0.962000	0.63368	1.369000	0.34227	0.613000	0.30089	0.561000	0.74099	GCC		0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	111	0	0	0	1	0	4	111				
ADAM22	53616	broad.mit.edu	37	7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000265727.7	+	23	2087	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398204.4_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2008-2010)Cct>Gct		ADAM metallopeptidase domain 22							153.0	138.0	143.0					7																	87792427		1868	4100	5968	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792427C>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2008C>G	7.37:g.87792427C>G	ENSP00000265727:p.Pro670Ala					ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000265727.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A	p.P670A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2331	+	Esophageal squamous(14;0.00202)		670			Cys-rich.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2008C>G	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114349	0.56505	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.42131	4.52;4.52;4.52;4.54;4.54;4.52;0.98	5.83	5.83	0.93111	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.58101	1.795	0.80722	D	1	P;P;P;P	0.39809	0.689;0.601;0.466;0.627	B;B;B;B	0.42771	0.397;0.352;0.191;0.132	T	0.45614	-0.9249	10	0.66056	D	0.02	.	12.9347	0.58307	0.0:0.9219:0.0:0.0781	.	722;670;670;670	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	A	670;670;670;670;670;637;28	ENSP00000381262:P670A;ENSP00000381260:P670A;ENSP00000265727:P670A;ENSP00000315900:P670A;ENSP00000381267:P670A;ENSP00000381261:P637A;ENSP00000396233:P28A	ENSP00000265727:P670A	P	+	1	0	ADAM22	87630363	0.998000	0.40836	1.000000	0.80357	0.835000	0.47333	3.789000	0.55454	2.752000	0.94435	0.650000	0.86243	CCT		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		35	96	0	0	0	1	0	35	96				
UCN	7349	broad.mit.edu	37	2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647																																						ENST00000296099.2																			0				lung(1)|skin(1)	2						c.(340-342)caG>caC		urocortin							27.0	31.0	30.0					2																	27530422		2188	4294	6482	SO:0001583	missense	7349					extracellular region	neuropeptide hormone activity	g.chr2:27530422C>G	AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"""Endogenous ligands"""	12516	protein-coding gene	gene with protein product	"""prepro-urocortin"""	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.342G>C	2.37:g.27530422C>G	ENSP00000296099:p.Gln114His						p.Q114H	NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN			2	640	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		114					Q6FG64	Missense_Mutation	SNP	ENST00000296099.2	37	c.342G>C	CCDS1747.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562712	0.65538	.	.	ENSG00000163794	ENST00000296099	.	.	.	4.58	1.73	0.24493	Corticotropin-releasing factor, CRF (2);	0.208986	0.32769	N	0.005667	T	0.32194	0.0821	N	0.25647	0.755	0.35689	D	0.814711	B	0.15473	0.013	B	0.17433	0.018	T	0.15292	-1.0442	9	0.35671	T	0.21	-26.485	3.5084	0.07699	0.2007:0.5902:0.0:0.2092	.	114	P55089	UCN1_HUMAN	H	114	.	ENSP00000296099:Q114H	Q	-	3	2	UCN	27383926	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.630000	0.24553	0.633000	0.30452	0.561000	0.74099	CAG		0.647	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		38	46	0	0	0	1	0	38	46				
CCDC91	55297	broad.mit.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000539107.1_Intron			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368																																						ENST00000545336.1																			1	Substitution - Missense(1)	p.S238F(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(712-714)tCt>tGt		coiled-coil domain containing 91							92.0	90.0	91.0					12																	28544295		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28544295C>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.713C>G	12.37:g.28544295C>G	ENSP00000438040:p.Ser238Cys					CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C	p.S238C			Q7Z6B0	CCD91_HUMAN			11	1132	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		238			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.713C>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491898	0.44352	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.55588	0.51;1.41;1.41;1.41;1.41;1.4	5.16	4.26	0.50523	.	0.359356	0.22352	N	0.061199	T	0.34716	0.0907	N	0.19112	0.55	0.26124	N	0.980515	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24190	-1.0167	10	0.59425	D	0.04	.	7.0445	0.25038	0.0:0.7255:0.1778:0.0967	.	238;208	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	C	34;238;238;238;238;208	ENSP00000441714:S34C;ENSP00000445660:S238C;ENSP00000438040:S238C;ENSP00000442544:S238C;ENSP00000370658:S238C;ENSP00000305075:S208C	ENSP00000305075:S208C	S	+	2	0	CCDC91	28435562	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.460000	0.45031	1.287000	0.44583	0.650000	0.86243	TCT		0.368	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		27	48	0	0	0	1	0	27	48				
MS4A4A	51338	broad.mit.edu	37	11	60068530	60068530	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000337908.4	+	4	477	c.387G>C	c.(385-387)ctG>ctC	p.L129L	MS4A4A_ENST00000355131.3_Splice_Site_p.L110L|MS4A4A_ENST00000532114.1_Splice_Site_p.L129L|MS4A4A_ENST00000395016.3_Splice_Site_p.L110L	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.e5+1		membrane-spanning 4-domains, subfamily A, member 4A							65.0	66.0	66.0					11																	60068530		2203	4298	6501	SO:0001630	splice_region_variant	51338					integral to membrane	receptor activity	g.chr11:60068530G>C	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.387+1G>C	11.37:g.60068530G>C						MS4A4A_ENST00000395016.3_Splice_Site_p.L110_splice|MS4A4A_ENST00000532114.1_Splice_Site_p.L129_splice|MS4A4A_ENST00000337908.4_Splice_Site_p.L129_splice	p.L110_splice	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			5	553	+			129					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Splice_Site	SNP	ENST00000337908.4	37	c.330_splice	CCDS7982.1																																																																																				0.299	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		Silent	8	11	0	0	0	1	0	8	11				
MAF	4094	broad.mit.edu	37	16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(31-33)Gac>Cac		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							34.0	41.0	39.0					16																	79633769		2188	4286	6474	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633769C>G		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.31G>C	16.37:g.79633769C>G	ENSP00000377019:p.Asp11His					MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	842	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	11					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.31G>C	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061108	0.36373	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.27053	0.805	0.42344	D	0.992344	D;D	0.89917	0.999;1.0	D;D	0.72338	0.948;0.977	D	0.99218	1.0878	10	0.87932	D	0	-1.5394	16.2332	0.82358	0.0:1.0:0.0:0.0	.	11;11	O75444;O75444-1	MAF_HUMAN;.	H	11	ENSP00000327048:D11H;ENSP00000377019:D11H	ENSP00000327048:D11H	D	-	1	0	MAF	78191270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.257000	0.65473	1.891000	0.54761	0.638000	0.83543	GAC		0.612	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			30	68	0	0	0	1	0	30	68				
GPR116	221395	broad.mit.edu	37	6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2050-2052)caG>caC		G protein-coupled receptor 116							94.0	90.0	91.0					6																	46830772		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830772C>G	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2052G>C	6.37:g.46830772C>G	ENSP00000283296:p.Gln684His					GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H	p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2340	-			684					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2052G>C	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313320	0.60414	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27720	1.68;2.06;1.69;1.68;1.65	5.33	3.56	0.40772	.	0.329841	0.26196	N	0.025767	T	0.30293	0.0760	M	0.72118	2.19	0.28942	N	0.890921	D;P;D;D;D	0.61080	0.989;0.9;0.958;0.978;0.958	P;P;P;P;P	0.59221	0.804;0.593;0.701;0.854;0.701	T	0.11275	-1.0594	10	0.51188	T	0.08	-4.1437	7.7078	0.28661	0.0:0.7418:0.0:0.2582	.	113;239;684;542;684	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	H	684;684;684;542;55;684;113	ENSP00000283296:Q684H;ENSP00000354563:Q684H;ENSP00000412866:Q542H;ENSP00000265417:Q684H;ENSP00000441581:Q113H	ENSP00000265417:Q684H	Q	-	3	2	GPR116	46938731	0.662000	0.27439	0.989000	0.46669	0.787000	0.44495	0.614000	0.24314	0.755000	0.32990	0.655000	0.94253	CAG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		35	60	0	0	0	1	0	35	60				
BTNL8	79908	broad.mit.edu	37	5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000340184.4	+	4	955	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000231229.4_Missense_Mutation_p.G250A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(748-750)gGc>gCc		butyrophilin-like 8							234.0	242.0	239.0					5																	180374587		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180374587G>C	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.749G>C	5.37:g.180374587G>C	ENSP00000342197:p.Gly250Ala					BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A|BTNL8_ENST00000340184.4_Missense_Mutation_p.G250A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A	p.G250A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	983	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	250					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.749G>C	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059642	0.01950	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.58506	4.95;1.4;0.74;4.95;0.74;0.33;0.36	1.33	-0.896	0.10557	.	.	.	.	.	T	0.33962	0.0881	L	0.38175	1.15	0.09310	N	1	B;P;P;P;B	0.47762	0.363;0.765;0.9;0.787;0.012	B;B;B;B;B	0.37387	0.096;0.157;0.208;0.248;0.006	T	0.23547	-1.0185	9	0.15952	T	0.53	.	1.9118	0.03289	0.2274:0.0:0.4567:0.3159	.	125;134;250;250;250	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	A	250;250;125;250;134;43;66	ENSP00000231229:G250A;ENSP00000342197:G250A;ENSP00000383543:G125A;ENSP00000424585:G250A;ENSP00000425207:G134A;ENSP00000427441:G43A;ENSP00000435098:G66A	ENSP00000231229:G250A	G	+	2	0	BTNL8	180307193	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.977000	0.03782	-0.322000	0.08615	0.436000	0.28706	GGC		0.458	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		108	168	0	0	0	1	0	108	168				
COL1A2	1278	broad.mit.edu	37	7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	ENST00000297268.6	+	18	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	303					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(907-909)Aac>Tac		collagen, type I, alpha 2	Collagenase(DB00048)						140.0	145.0	143.0					7																	94038891		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038891A>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.907A>T	7.37:g.94038891A>T	ENSP00000297268:p.Asn303Tyr	HNSCC(75;0.22)					p.N303Y	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1378	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		303					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.907A>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902283	0.33628	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.83992	-1.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	L	0.46157	1.445	0.58432	D	0.99999	D	0.54964	0.969	P	0.55391	0.775	D	0.87537	0.2456	10	0.87932	D	0	.	16.3349	0.83056	1.0:0.0:0.0:0.0	.	303	P08123	CO1A2_HUMAN	Y	303;304	ENSP00000297268:N303Y	ENSP00000297268:N303Y	N	+	1	0	COL1A2	93876827	1.000000	0.71417	0.991000	0.47740	0.120000	0.20174	5.348000	0.66004	2.324000	0.78689	0.533000	0.62120	AAC		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		4	118	0	0	0	1	0	4	118				
LIG4	3981	broad.mit.edu	37	13	108861247	108861247	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000405925.1_Silent_p.E790E|LIG4_ENST00000442234.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2368-2370)gaA>gaG	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							58.0	59.0	59.0					13																	108861247		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861247T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2370A>G	13.37:g.108861247T>C						LIG4_ENST00000405925.1_Silent_p.E790E|LIG4_ENST00000442234.1_Silent_p.E790E	p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2642	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		790					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2370A>G	CCDS9508.1																																																																																				0.388	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		17	36	0	0	0	1	0	17	36				
PCDHB18	54660	broad.mit.edu	37	5	140615277	140615277	+	RNA	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140615277C>G	ENST00000526308.1	+	0	1340					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAGTTTGCTCAATTCAGGAC	0.478																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615277C>G	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615277C>G								NR_001281.1						0	1340	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.478	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			11	7	0	0	0	1	0	11	7				
ATRX	546	broad.mit.edu	37	X	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCAGTATGTGAAGACAGCAC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3709-3711)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						118.0	108.0	112.0					X																	76937038		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937038G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3710C>G	X.37:g.76937038G>C	ENSP00000362441:p.Ser1237*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	p.S1237*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3924	-			1237					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3710C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	46	12.128128	0.99638	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.357786	0.23084	N	0.052108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.4821	17.018	0.86425	0.0:0.0:1.0:0.0	.	.	.	.	X	1237;1199;1164	.	ENSP00000362441:S1237X	S	-	2	0	ATRX	76823694	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.406000	0.52637	2.397000	0.81536	0.513000	0.50165	TCA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		43	14	0	0	0	1	0	43	14				
ZFHX3	463	broad.mit.edu	37	16	72991939	72991939	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2104-2106)gtC>gtG		zinc finger homeobox 3							55.0	63.0	60.0					16																	72991939		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991939G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2106C>G	16.37:g.72991939G>C						ZFHX3_ENST00000397992.5_Intron	p.V702V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2778	-		Ovarian(137;0.13)	702					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2106C>G	CCDS10908.1																																																																																				0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	164	0	0	0	1	0	13	164				
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.A119T(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(355-357)Gcc>Acc		olfactory receptor, family 5, subfamily I, member 1							54.0	56.0	55.0					11																	55703522		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703522C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.355G>A	11.37:g.55703522C>T	ENSP00000301532:p.Ala119Thr						p.A119T	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	354	-			119					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.355G>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838853	0.16891	.	.	ENSG00000167825	ENST00000301532	T	0.03035	4.07	4.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.142736	0.32287	N	0.006305	T	0.03651	0.0104	L	0.58101	1.795	0.09310	N	1	P	0.49358	0.923	B	0.31869	0.137	T	0.43097	-0.9412	10	0.42905	T	0.14	.	9.5788	0.39475	0.0:0.8258:0.0:0.1742	.	119	Q13606	OR5I1_HUMAN	T	119	ENSP00000301532:A119T	ENSP00000301532:A119T	A	-	1	0	OR5I1	55460098	0.000000	0.05858	0.242000	0.24170	0.021000	0.10359	1.005000	0.29834	0.601000	0.29879	-0.154000	0.13518	GCC		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	61	0	0	0	1	0	5	61				
PLBD2	196463	broad.mit.edu	37	12	113824841	113824841	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	ENST00000280800.3	+	10	1417	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_ENST00000545182.2_Silent_p.F430F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	462					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1384-1386)ttC>ttT		phospholipase B domain containing 2							71.0	76.0	74.0					12																	113824841		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824841C>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1386C>T	12.37:g.113824841C>T						PLBD2_ENST00000545182.2_Silent_p.F430F	p.F462F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1417	+			462					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1386C>T	CCDS9168.1																																																																																				0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	162	0	0	0	1	0	14	162				
FOXK1	221937	broad.mit.edu	37	7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	ENST00000328914.4	+	5	1144	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1144-1146)Gac>Cac		forkhead box K1							86.0	93.0	91.0					7																	4796718		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796718G>C	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1144G>C	7.37:g.4796718G>C	ENSP00000328720:p.Asp382His					FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	p.D382H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1144	+		Ovarian(82;0.0175)	382						Missense_Mutation	SNP	ENST00000328914.4	37	c.1144G>C	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034601	0.93575	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95949	-3.86;-3.86	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97337	0.9954	10	0.72032	D	0.01	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	382;219	P85037;P85037-2	FOXK1_HUMAN;.	H	219;146;382;265	ENSP00000394442:D219H;ENSP00000328720:D382H	ENSP00000328720:D382H	D	+	1	0	FOXK1	4763244	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.826000	0.99387	2.735000	0.93741	0.655000	0.94253	GAC		0.572	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	198	0	0	0	1	0	5	198				
MCAT	27349	broad.mit.edu	37	22	43529109	43529109	+	Silent	SNP	G	G	A	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	ENST00000290429.6	-	4	1158	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	371					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1111-1113)gcC>gcT		malonyl CoA:ACP acyltransferase (mitochondrial)		G	,	0,4406		0,0,2203	114.0	115.0	115.0		,1113	-4.7	0.0	22	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	no	utr-3,coding-synonymous	MCAT	NM_014507.3,NM_173467.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,371/391	43529109	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529109G>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1113C>T	22.37:g.43529109G>A						MCAT_ENST00000327555.5_3'UTR	p.A371A	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1158	-		Ovarian(80;0.0694)	371					B0QY72|O95510|O95511	Silent	SNP	ENST00000290429.6	37	c.1113C>T	CCDS33660.1																																																																																				0.617	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		5	240	0	0	0	1	0	5	240				
CDH17	1015	broad.mit.edu	37	8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	ENST00000027335.3	-	16	2399	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_ENST00000441892.2_Missense_Mutation_p.S545P|CDH17_ENST00000450165.2_Missense_Mutation_p.S759P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	759	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2275-2277)Tct>Cct		cadherin 17, LI cadherin (liver-intestine)							132.0	129.0	130.0					8																	95143113		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95143113A>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2275T>C	8.37:g.95143113A>G	ENSP00000027335:p.Ser759Pro					CDH17_ENST00000450165.2_Missense_Mutation_p.S759P|CDH17_ENST00000441892.2_Missense_Mutation_p.S545P	p.S759P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		16	2399	-	Breast(36;4.65e-06)		759			Cadherin 7.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2275T>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519717	0.27211	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.38401	1.14;1.14;1.14	5.84	0.149	0.14863	Cadherin (1);Cadherin-like (1);	1.023300	0.07785	N	0.954017	T	0.31606	0.0802	L	0.41492	1.28	0.09310	N	0.999994	D;P	0.57257	0.979;0.536	P;B	0.47470	0.548;0.189	T	0.21724	-1.0237	10	0.27082	T	0.32	-0.1132	5.9395	0.19186	0.4382:0.1443:0.0:0.4175	.	545;759	E7EN24;Q12864	.;CAD17_HUMAN	P	759;545;759	ENSP00000027335:S759P;ENSP00000392811:S545P;ENSP00000401468:S759P	ENSP00000027335:S759P	S	-	1	0	CDH17	95212289	0.303000	0.24463	0.028000	0.17463	0.114000	0.19823	0.413000	0.21148	-0.190000	0.10465	0.482000	0.46254	TCT		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		5	114	0	0	0	1	0	5	114				
HECTD1	25831	broad.mit.edu	37	14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	ENST00000399332.1	-	33	6370	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1961					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5881-5883)tCt>tGt		HECT domain containing E3 ubiquitin protein ligase 1							127.0	125.0	125.0					14																	31582665		1806	4076	5882	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582665G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5882C>G	14.37:g.31582665G>C	ENSP00000382269:p.Ser1961Cys					HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	33	6370	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1961					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5882C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.346580|4.346580	0.82022|0.82022	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.45668	.|0.89;0.89;1.33	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.163356	.|0.39985	.|U	.|0.001213	T|T	0.37652|0.37652	0.1011|0.1011	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.983	.|P;P	.|0.50231	.|0.635;0.536	T|T	0.43861|0.43861	-0.9365|-0.9365	5|10	.|0.62326	.|D	.|0.03	-10.9412|-10.9412	20.089|20.089	0.97809|0.97809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1961;1961	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	V|C	327|1961;1963;1961;1388	.|ENSP00000450697:S1961C;ENSP00000382269:S1961C;ENSP00000451860:S1388C	.|ENSP00000261312:S1963C	L|S	-|-	1|2	2|0	HECTD1|HECTD1	30652416|30652416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.939000|7.939000	0.87685|0.87685	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CTG|TCT		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			4	211	0	0	0	1	0	4	211				
ATP12A	479	broad.mit.edu	37	13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000381946.3	+	11	1591	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ATP12A_ENST00000218548.6_Missense_Mutation_p.S481L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1441-1443)tCa>tTa		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						117.0	127.0	123.0					13																	25268628		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268628C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1424C>T	13.37:g.25268628C>T	ENSP00000371372:p.Ser475Leu		OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Missense_Mutation_p.S475L	p.S481L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1775	+		Lung SC(185;0.0225)|Breast(139;0.077)	475					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1442C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078626	0.76528	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.090669	0.48286	D	0.000200	T	0.72534	0.3472	N	0.04787	-0.16	0.46376	D	0.999018	B;P	0.37573	0.015;0.6	B;P	0.50314	0.087;0.637	T	0.77091	-0.2716	10	0.54805	T	0.06	.	17.0052	0.86391	0.0:1.0:0.0:0.0	.	481;475	P54707-2;P54707	.;AT12A_HUMAN	L	481;475	ENSP00000218548:S481L;ENSP00000371372:S475L	ENSP00000218548:S481L	S	+	2	0	ATP12A	24166628	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	3.563000	0.53784	2.620000	0.88729	0.563000	0.77884	TCA		0.353	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		49	78	0	0	0	1	0	49	78				
POU1F1	5449	broad.mit.edu	37	3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F|POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413																																						ENST00000350375.2																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(256-258)ttG>ttC		POU class 1 homeobox 1							74.0	79.0	78.0					3																	87313619		2203	4299	6502	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87313619C>G	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.258G>C	3.37:g.87313619C>G	ENSP00000263781:p.Leu86Phe					POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	3	382	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	86					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.258G>C	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220799	0.39201	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89681	-2.53;-2.55	5.79	5.79	0.91817	.	0.178986	0.35013	N	0.003515	D	0.88407	0.6428	M	0.64404	1.975	0.41663	D	0.989192	P;P	0.52463	0.953;0.931	P;B	0.49999	0.628;0.444	D	0.84908	0.0846	10	0.19590	T	0.45	.	9.178	0.37123	0.1464:0.7811:0.0:0.0725	.	112;86	P28069-2;P28069	.;PIT1_HUMAN	F	86;112	ENSP00000263781:L86F;ENSP00000342931:L112F	ENSP00000342931:L112F	L	-	3	2	POU1F1	87396309	0.998000	0.40836	0.489000	0.27452	0.088000	0.18126	1.280000	0.33202	2.734000	0.93682	0.655000	0.94253	TTG		0.413	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		29	54	0	0	0	1	0	29	54				
MYCN	4613	broad.mit.edu	37	2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	ENST00000281043.3	+	3	1483	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	396	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1186-1188)Gac>Cac		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							81.0	87.0	85.0					2																	16086010		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086010G>C	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1186G>C	2.37:g.16086010G>C	ENSP00000281043:p.Asp396His						p.D396H	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1483	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		396			Helix-loop-helix motif.		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1186G>C	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352211	0.82132	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.98028	-4.67	5.14	5.14	0.70334	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-18.8955	18.9941	0.92806	0.0:0.0:1.0:0.0	.	396	P04198	MYCN_HUMAN	H	396;314	ENSP00000281043:D396H	ENSP00000281043:D396H	D	+	1	0	MYCN	16003461	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.792000	0.99085	2.588000	0.87417	0.609000	0.83330	GAC		0.572	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		5	225	0	0	0	1	0	5	225				
SLC26A3	1811	broad.mit.edu	37	7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T	rs200724013		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1297-1299)gCg>gAg		solute carrier family 26 (anion exchanger), member 3							87.0	86.0	86.0					7																	107423255		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423255G>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1298C>A	7.37:g.107423255G>T	ENSP00000345873:p.Ala433Glu					SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	p.A433E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			11	1482	-			433						Missense_Mutation	SNP	ENST00000340010.5	37	c.1298C>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	0.825	-0.747404	0.03065	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92647	-3.08;-3.08	6.07	-0.901	0.10540	Sulphate transporter (1);	0.681821	0.15500	N	0.259095	T	0.71324	0.3326	N	0.00380	-1.58	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.57860	-0.7738	10	0.02654	T	1	.	19.0709	0.93136	0.0:0.0:0.6449:0.3551	.	398;433	G5E9U3;P40879	.;S26A3_HUMAN	E	398;433	ENSP00000415817:A398E;ENSP00000345873:A433E	ENSP00000345873:A433E	A	-	2	0	SLC26A3	107210491	0.767000	0.28508	0.025000	0.17156	0.576000	0.36127	1.035000	0.30216	-0.362000	0.08113	-0.256000	0.11100	GCG		0.413	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		9	140	1	0	0.010729	1	0.0107983	9	140				
ZNF697	90874	broad.mit.edu	37	1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622																																						ENST00000421812.2																			0				ovary(2)	2						c.(325-327)tCt>tGt		zinc finger protein 697							50.0	56.0	54.0					1																	120166640		2097	4227	6324	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120166640G>C	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.326C>G	1.37:g.120166640G>C	ENSP00000396857:p.Ser109Cys						p.S109C	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	445	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	109					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.326C>G	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109402	0.20714	.	.	ENSG00000143067	ENST00000421812	T	0.14516	2.5	4.61	4.61	0.57282	.	.	.	.	.	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	P	0.39576	0.679	B	0.40702	0.338	T	0.32161	-0.9917	9	0.29301	T	0.29	.	9.0557	0.36403	0.1022:0.0:0.8978:0.0	.	109	Q5TEC3	ZN697_HUMAN	C	109	ENSP00000396857:S109C	ENSP00000396857:S109C	S	-	2	0	ZNF697	119968163	0.922000	0.31269	0.441000	0.26858	0.072000	0.16883	2.467000	0.45093	2.291000	0.77112	0.563000	0.77884	TCT		0.622	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		13	30	0	0	0	1	0	13	30				
LNX2	222484	broad.mit.edu	37	13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G	rs368444726		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	ENST00000316334.3	-	2	274	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	49					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(145-147)Gtc>Ctc		ligand of numb-protein X 2		C	LEU/VAL	0,4406		0,0,2203	145.0	123.0	130.0		145	6.1	1.0	13		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	LNX2	NM_153371.3	32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	49/691	28155696	1,13005	2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28155696C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.145G>C	13.37:g.28155696C>G	ENSP00000325929:p.Val49Leu						p.V49L	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	2	274	-		Lung SC(185;0.0156)	49					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.145G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920941	0.92249	0.0	1.16E-4	ENSG00000139517	ENST00000316334	T	0.15718	2.4	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	N	0.08118	0	0.80722	D	1	P	0.41597	0.756	B	0.42882	0.401	T	0.07481	-1.0770	10	0.48119	T	0.1	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	49	Q8N448	LNX2_HUMAN	L	49	ENSP00000325929:V49L	ENSP00000325929:V49L	V	-	1	0	LNX2	27053696	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.657000	0.61490	2.882000	0.98803	0.655000	0.94253	GTC		0.443	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			4	109	0	0	0	1	0	4	109				
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839350G>A	ENST00000328439.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E267E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(799-801)gaG>gaA		myelin transcription factor 1							19.0	19.0	19.0					20																	62839350		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839350G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.801G>A	20.37:g.62839350G>A						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E	p.E267E			Q01538	MYT1_HUMAN			7	1165	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		267			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.801G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	28	0	0	0	1	0	3	28				
TXNL4A	10907	broad.mit.edu	37	18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000585474.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667																																					Ovarian(160;2333 2597 11821 36245)	ENST00000269601.5																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(118-120)aaG>aaC		thioredoxin-like 4A							75.0	51.0	59.0					18																	77748273		2203	4300	6503	SO:0001583	missense	10907				cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding	g.chr18:77748273C>G	AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.120G>C	18.37:g.77748273C>G	ENSP00000269601:p.Lys40Asn					TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000592957.1_Intron	p.K40N	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)	1	320	-		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)	40					B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	37	c.120G>C	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611034	0.28712	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	-1.74	0.08056	Thioredoxin-like fold (2);	0.052127	0.64402	U	0.000001	T	0.63414	0.2509	M	0.75264	2.295	0.50813	D	0.999893	P;B	0.34699	0.464;0.108	B;B	0.42593	0.392;0.122	T	0.63107	-0.6711	9	0.54805	T	0.06	-19.1606	11.1691	0.48560	0.0:0.4042:0.0:0.5958	.	40;40	O14835;P83876	.;TXN4A_HUMAN	N	40	.	ENSP00000269601:K40N	K	-	3	2	TXNL4A	75849261	0.993000	0.37304	0.995000	0.50966	0.243000	0.25628	0.194000	0.17135	-0.314000	0.08716	-0.302000	0.09304	AAG		0.667	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701		7	18	0	0	0	1	0	7	18				
MTF1	4520	broad.mit.edu	37	1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1921-1923)tCt>tGt		metal-regulatory transcription factor 1							43.0	43.0	43.0					1																	38281148		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38281148G>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1922C>G	1.37:g.38281148G>C	ENSP00000362127:p.Ser641Cys						p.S641C	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			11	2062	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	641					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1922C>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174307	0.78452	.	.	ENSG00000188786	ENST00000373036	T	0.52983	0.64	5.95	5.95	0.96441	.	0.052333	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.68192	0.956	T	0.70572	-0.4835	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	641	Q14872	MTF1_HUMAN	C	641	ENSP00000362127:S641C	ENSP00000362127:S641C	S	-	2	0	MTF1	38053735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.817000	0.96982	0.563000	0.77884	TCT		0.612	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		5	66	0	0	0	1	0	5	66				
HGD	3081	broad.mit.edu	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1309-1311)aaC>aaA		homogentisate 1,2-dioxygenase							189.0	186.0	187.0					3																	120347254		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120347254G>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1311C>A	3.37:g.120347254G>T	ENSP00000283871:p.Asn437Lys						p.N437K	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	14	1770	-			437					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1311C>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142054	0.21205	.	.	ENSG00000113924	ENST00000283871	D	0.98978	-5.29	5.02	-4.71	0.03279	Cupin, RmlC-type (1);	0.287715	0.36167	N	0.002741	D	0.95271	0.8466	L	0.41415	1.275	0.34915	D	0.747828	B	0.02656	0.0	B	0.04013	0.001	D	0.86513	0.1811	10	0.18710	T	0.47	-5.4857	7.078	0.25215	0.1867:0.1215:0.573:0.1188	.	437	Q93099	HGD_HUMAN	K	437	ENSP00000283871:N437K	ENSP00000283871:N437K	N	-	3	2	HGD	121829944	0.967000	0.33354	0.778000	0.31720	0.342000	0.28953	0.142000	0.16096	-0.406000	0.07588	-1.264000	0.01445	AAC		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			39	147	1	0	3.09479e-21	1	3.21858e-21	39	147				
HCG17	414778	broad.mit.edu	37	6	30227842	30227842	+	lincRNA	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:30227842T>C	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		TGCTCCGCTATTACAACCAGA	0.667																																						ENST00000453558.1																			0																																																			0							g.chr6:30227842T>C	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227842T>C						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.667	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	29	0	0	0	1	0	3	29				
ARID3B	10620	broad.mit.edu	37	15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	ENST00000346246.5	+	9	1891	c.1660C>G	c.(1660-1662)Ccc>Gcc	p.P554A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	555	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1660-1662)Ccc>Gcc		AT rich interactive domain 3B (BRIGHT-like)							41.0	47.0	45.0					15																	74888092		2197	4294	6491	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888092C>G		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1660C>G	15.37:g.74888092C>G	ENSP00000343126:p.Pro554Ala						p.P554A	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1891	+			555			Ser-rich.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1660C>G	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024865	0.75390	.	.	ENSG00000179361	ENST00000346246	T	0.53206	0.63	4.4	4.4	0.53042	.	0.069936	0.56097	D	0.000022	T	0.54464	0.1860	N	0.19112	0.55	0.47994	D	0.999562	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.56938	-0.7896	10	0.40728	T	0.16	-22.3664	17.5479	0.87867	0.0:1.0:0.0:0.0	.	555;554	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	A	554	ENSP00000343126:P554A	ENSP00000343126:P554A	P	+	1	0	ARID3B	72675145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.022000	0.64078	2.446000	0.82766	0.462000	0.41574	CCC		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		6	93	0	0	0	1	0	6	93				
AIPL1	23746	broad.mit.edu	37	17	6331637	6331637	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.e3+1		aryl hydrocarbon receptor interacting protein-like 1							59.0	52.0	54.0					17																	6331637		2203	4300	6503	SO:0001630	splice_region_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6331637C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.465+1G>A	17.37:g.6331637C>T						AIPL1_ENST00000574506.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site		NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	546	-								D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Splice_Site	SNP	ENST00000381129.3	37		CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880445	0.72294	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4759	0.84132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AIPL1	6272361	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.426000	0.80270	2.560000	0.86352	0.561000	0.74099	.		0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	Intron	53	19	0	0	0	1	0	53	19				
CHSY1	22856	broad.mit.edu	37	15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1258-1260)Gcc>Acc		chondroitin sulfate synthase 1							81.0	78.0	79.0					15																	101718744		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718744C>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1258G>A	15.37:g.101718744C>T	ENSP00000254190:p.Ala420Thr					CHSY1_ENST00000543813.1_5'UTR	p.A420T	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	1733	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		420					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1258G>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977121	0.92982	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16073	2.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	P	0.51055	0.657	T	0.01071	-1.1461	10	0.18710	T	0.47	-51.8735	20.063	0.97692	0.0:1.0:0.0:0.0	.	420	Q86X52	CHSS1_HUMAN	T	420;148	ENSP00000254190:A420T	ENSP00000254190:A420T	A	-	1	0	CHSY1	99536267	1.000000	0.71417	0.986000	0.45419	0.912000	0.54170	7.627000	0.83176	2.735000	0.93741	0.655000	0.94253	GCC		0.577	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		22	71	0	0	0	1	0	22	71				
PCDHA6	56142	broad.mit.edu	37	5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	ENST00000529310.1	+	1	1686	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1570-1572)gaC>gaG									68.0	80.0	76.0					5																	140209248		2202	4293	6495	SO:0001583	missense	0							g.chr5:140209248C>G	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1572C>G	5.37:g.140209248C>G	ENSP00000433378:p.Asp524Glu					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.D524E	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1686	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1572C>G	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525374	0.44969	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.63255	-0.03;-0.03	3.68	2.79	0.32731	Cadherin (5);Cadherin-like (1);	0.000000	0.38326	U	0.001737	D	0.83367	0.5239	H	0.96720	3.87	0.26481	N	0.975102	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.74604	-0.3610	10	0.87932	D	0	.	9.6916	0.40131	0.0:0.828:0.0:0.172	.	524;524;524	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	E	524	ENSP00000433378:D524E;ENSP00000434113:D524E	ENSP00000434113:D524E	D	+	3	2	PCDHA6	140189432	0.714000	0.27936	1.000000	0.80357	0.571000	0.35966	0.291000	0.18994	2.056000	0.61249	0.306000	0.20318	GAC		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		87	213	0	0	0	1	0	87	213				
IGKV1D-12	28903	broad.mit.edu	37	2	90198958	90198958	+	RNA	SNP	G	G	A	rs200419304	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:90198958G>A	ENST00000390276.2	+	0	300									immunoglobulin kappa variable 1D-12																		GTAGGAGACAGAGTCACCATC	0.488																																						ENST00000390276.2																			0																				82.0	110.0	103.0					2																	90198958		1453	4036	5489			0							g.chr2:90198958G>A	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90198958G>A														0	300	+									RNA	SNP	ENST00000390276.2	37																																																																																						0.488	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		4	108	0	0	0	1	0	4	108				
MUC16	94025	broad.mit.edu	37	19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22108-22110)Ctt>Gtt		mucin 16, cell surface associated							87.0	91.0	90.0					19																	9065338		2020	4169	6189	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065338G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22108C>G	19.37:g.9065338G>C	ENSP00000381008:p.Leu7370Val						p.L7370V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22311	-			7372			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22108C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.342	-0.593863	0.03771	.	.	ENSG00000181143	ENST00000397910	T	0.32272	1.46	2.44	-4.89	0.03103	.	.	.	.	.	T	0.17534	0.0421	L	0.27053	0.805	.	.	.	P	0.39424	0.673	B	0.38755	0.281	T	0.12630	-1.0540	8	0.87932	D	0	.	4.6962	0.12804	0.225:0.0:0.1874:0.5876	.	7370	B5ME49	.	V	7370	ENSP00000381008:L7370V	ENSP00000381008:L7370V	L	-	1	0	MUC16	8926338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.020000	0.01441	-1.915000	0.01077	-1.568000	0.00874	CTT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	50	0	0	0	1	0	5	50				
EXOC4	60412	broad.mit.edu	37	7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2599-2601)atC>atG		exocyst complex component 4							79.0	66.0	70.0					7																	133692502		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133692502C>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2601C>G	7.37:g.133692502C>G	ENSP00000253861:p.Ile867Met					EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	p.I867M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			17	2630	+		Esophageal squamous(399;0.129)	867					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2601C>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031567	0.75504	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.45137	1.4	0.54753	D	0.999985	D;D;D	0.58268	0.958;0.982;0.972	P;P;P	0.58873	0.847;0.847;0.647	T	0.69331	-0.5173	9	0.66056	D	0.02	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	399;477;867	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	867;486;766;477;155	.	ENSP00000253861:I867M	I	+	3	3	EXOC4	133343042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.239000	0.51360	2.569000	0.86673	0.591000	0.81541	ATC		0.522	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	51	0	0	0	1	0	10	51				
IKZF3	22806	broad.mit.edu	37	17	37947817	37947817	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	ENST00000346872.3	-	5	505	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_ENST00000535189.1_Silent_p.C114C|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Silent_p.C114C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	148					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACTGATTACACTGGAATG	0.438																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(442-444)tgT>tgC		IKAROS family zinc finger 3 (Aiolos)							120.0	115.0	117.0					17																	37947817		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947817A>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.444T>C	17.37:g.37947817A>G						IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439167.2_Silent_p.C114C|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000535189.1_Silent_p.C114C	p.C148C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	505	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		148					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.444T>C	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	A	9.118	1.008344	0.19199	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.94	4.87	0.63330	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56896	-0.7903	4	.	.	.	-13.6645	9.0187	0.36186	0.8595:0.0:0.1405:0.0	.	.	.	.	A	102	.	.	V	-	2	0	IKZF3	35201343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.585000	0.46111	1.080000	0.41073	0.528000	0.53228	GTA		0.438	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		4	142	0	0	0	1	0	4	142				
ALMS1	7840	broad.mit.edu	37	2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA	rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698																																						ENST00000264448.6																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.E27_E28delEE(1)|p.E28_A29insE(1)	ovary(1)|breast(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(34-36)cga>cGGAga		Alstrom syndrome 1																																				SO:0001652	inframe_insertion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613031_73613032insGGA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup					ALMS1_ENST00000377715.1_In_Frame_Ins_p.12_12R>RR|ALMS1_ENST00000409009.1_In_Frame_Ins_p.12_12R>RR	p.12_12R>RR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			1	146_147	+			12			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	ENST00000264448.6	37	c.35_36insGGA	CCDS42697.1																																																																																				0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		3	3						3	3	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	58						7	58	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C	rs397515538		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.SP28fs|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.SP28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(82-84)accfs		runt-related transcription factor 2																																				SO:0001589	frameshift_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390354_45390355insC	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.90dupC	6.37:g.45390361_45390361dupC	ENSP00000360493:p.Ser28fs					RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.T14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.T14fs	p.T28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	441_442	+			28					O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	c.83_84insC	CCDS43467.2																																																																																				0.649	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		39	181						39	181	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-	rs6934749		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	ENST00000367976.3	-	2	419	c.219delA	c.(217-219)ccafs	p.P73fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(217-219)ccfs		connective tissue growth factor							6.0	8.0	7.0					6																	132271980		2100	4127	6227	SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271980delT	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.219delA	6.37:g.132271980delT	ENSP00000356954:p.Pro73fs						p.P73fs	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	2	419	-	Breast(56;0.0602)		73			IGFBP N-terminal.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Del	DEL	ENST00000367976.3	37	c.219delA	CCDS5151.1																																																																																				0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		2	4						2	4	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	ENST00000356083.3	+	3	1543	c.1152delC	c.(1150-1152)agcfs	p.S384fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	384	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1150-1152)agfs		collagen, type XXVII, alpha 1							124.0	125.0	125.0					9																	116930987		2203	4300	6503	SO:0001589	frameshift_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930987delC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1152delC	9.37:g.116930987delC	ENSP00000348385:p.Ser384fs						p.S384fs	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1543	+			384			Pro-rich.		Q66K43|Q96JF7	Frame_Shift_Del	DEL	ENST00000356083.3	37	c.1152delC	CCDS6802.1																																																																																				0.532	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		12	218						12	218	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)accfs	p.T415fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1243-1245)acfs		myosin, heavy chain 4, skeletal muscle							122.0	111.0	115.0					17																	10363541		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363541delG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1245delC	17.37:g.10363541delG	ENSP00000255381:p.Thr415fs					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T415fs	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			13	1355	-			415			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.1245delC	CCDS11154.1																																																																																				0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		29	108						29	108	---	---	---	---
