#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HFM1	164045	broad.mit.edu	37	1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1741-1743)Gat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							87.0	80.0	82.0					1																	91818698		1809	4074	5883	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818698C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1741G>C	1.37:g.91818698C>G	ENSP00000359454:p.Asp581His		Somatic				HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	p.D581H	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1839	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	581			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1741G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	1.954	-0.440583	0.04636	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.70749	-0.51;0.91	5.93	-4.91	0.03085	Helicase, C-terminal (2);	2.179560	0.04743	N	0.423110	T	0.18215	0.0437	N	0.01424	-0.875	0.29570	N	0.850002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.01711	-1.1290	10	0.16896	T	0.51	.	11.8675	0.52501	0.7716:0.1218:0.1066:0.0	.	260;581	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	581;260;265;614	ENSP00000359454:D581H;ENSP00000359453:D260H	ENSP00000359450:D265H	D	-	1	0	HFM1	91591286	0.007000	0.16637	0.531000	0.27976	0.281000	0.26958	0.175000	0.16762	-0.682000	0.05197	-0.211000	0.12701	GAT		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	71	22	71	---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161326467	161326467	+	Splice_Site	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Splice_Site_p.G47E	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.(241-243)gGg>gAg		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						115.0	117.0	116.0					1																	161326467		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326467G>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.242-1G>A	1.37:g.161326467G>A			Somatic				SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000432287.2_Splice_Site_p.G47E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR	p.G81E	NM_003001.3	NP_002992.1	WXS	Illumina GAIIx	Phase_I	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	391	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		81					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37	c.242G>A	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.283820	0.59867	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.97553	-4.43;-4.43;-4.43	5.24	3.33	0.38152	.	0.168642	0.49916	N	0.000122	D	0.98476	0.9492	H	0.96633	3.855	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.991;0.989	D	0.98720	1.0708	8	.	.	.	.	8.1583	0.31183	0.0837:0.0:0.7587:0.1576	.	28;47;81	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	E	81;47;28	ENSP00000356953:G81E;ENSP00000390558:G47E;ENSP00000376009:G28E	.	G	+	2	0	SDHC	159593091	1.000000	0.71417	0.590000	0.28732	0.977000	0.68977	5.050000	0.64251	0.672000	0.31204	0.639000	0.83563	GGG		0.468	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Missense_Mutation	59	139	59	139	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1114-1116)Gtg>Atg		sushi domain containing 4							28.0	34.0	32.0					1																	223396921		2191	4279	6470	SO:0001583	missense	55061					integral to membrane		g.chr1:223396921C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1114G>A	1.37:g.223396921C>T	ENSP00000344219:p.Val372Met		Somatic				SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M	p.V372M			WXS	Illumina GAIIx	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1747	-			372					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.1114G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889978	0.91889	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.39997	1.05;1.05;1.14	5.16	5.16	0.70880	.	0.311014	0.23129	N	0.051613	T	0.65196	0.2668	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68375	-0.5425	10	0.87932	D	0	-19.3898	18.6628	0.91477	0.0:1.0:0.0:0.0	.	372	Q5VX71	SUSD4_HUMAN	M	372;372;303;212	ENSP00000344219:V372M;ENSP00000355843:V372M;ENSP00000399288:V212M	ENSP00000344219:V372M	V	-	1	0	SUSD4	221463544	0.997000	0.39634	0.984000	0.44739	0.972000	0.66771	3.661000	0.54503	2.405000	0.81733	0.655000	0.94253	GTG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		12	29	12	29	---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20402631	20402631	+	Missense_Mutation	SNP	G	G	T	rs373949277		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:20402631G>T	ENST00000254351.4	-	5	1073	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.R277S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	277					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTTCATGCGGTACAGCATG	0.597																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(829-831)Cgc>Agc		syndecan 1							136.0	136.0	136.0					2																	20402631		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20402631G>T	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.829C>A	2.37:g.20402631G>T	ENSP00000254351:p.Arg277Ser		Somatic				SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.R277S	p.R277S	NM_001006946.1	NP_001006947	WXS	Illumina GAIIx	Phase_I	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	6	1219	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		277					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.829C>A	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835895	0.71373	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.74315	-0.83;-0.83	4.63	3.67	0.42095	Neurexin/syndecan/glycophorin C (1);	0.000000	0.42294	D	0.000731	D	0.84808	0.5554	M	0.82630	2.6	0.48087	D	0.999584	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	10	0.87932	D	0	-25.0509	9.5846	0.39508	0.0:0.0:0.6657:0.3343	.	277	P18827	SDC1_HUMAN	S	277	ENSP00000254351:R277S;ENSP00000370542:R277S	ENSP00000254351:R277S	R	-	1	0	SDC1	20266112	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.884000	0.28214	2.281000	0.76405	0.561000	0.74099	CGC		0.597	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		5	397	5	397	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000591111.1	-	63	18262	c.18038A>G	c.(18037-18039)cAg>cGg	p.Q6013R	TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6330R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 41.				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)			ATCAAGAATCTGATCATCCTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18988-18990)cAg>cGg		titin							61.0	58.0	59.0					2																	179593776		1846	4085	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593776T>C	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.18038A>G	2.37:g.179593776T>C	ENSP00000465570:p.Gln6013Arg		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.Q6330R	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	19213	-			6013			Ig-like 44.		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.18989A>G		.	.	.	.	.	.	.	.	.	.	T	9.517	1.107167	0.20714	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51092	0.1654	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50668	-0.8801	9	0.87932	D	0	.	11.4261	0.50012	0.0:0.0694:0.0:0.9305	.	6013	Q8WZ42	TITIN_HUMAN	R	5086	ENSP00000343764:Q5086R	ENSP00000343764:Q5086R	Q	-	2	0	TTN	179302021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.101000	0.50283	2.281000	0.76405	0.533000	0.62120	CAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	37	19	37	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(7-9)tAc>tGc		chromosome 3 open reading frame 62							37.0	39.0	38.0					3																	49314298		2122	4226	6348	SO:0001583	missense	375341							g.chr3:49314298T>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.8A>G	3.37:g.49314298T>C	ENSP00000341139:p.Tyr3Cys		Somatic					p.Y3C	NM_198562.2	NP_940964.1	WXS	Illumina GAIIx	Phase_I	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1044	-			3					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.8A>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860078	0.71834	.	.	ENSG00000188315	ENST00000343010	T	0.48836	0.8	4.3	-3.09	0.05331	.	1.178570	0.06438	N	0.725518	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.56958	D	0.05	-0.1179	5.4683	0.16656	0.0:0.1937:0.4833:0.323	.	3	Q6ZUJ4	CC062_HUMAN	C	3	ENSP00000341139:Y3C	ENSP00000341139:Y3C	Y	-	2	0	C3orf62	49289302	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.732000	0.04904	-0.348000	0.08286	0.533000	0.62120	TAC		0.443	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		14	60	14	60	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(748-750)Cat>Tat		G protein-coupled receptor 87							125.0	111.0	116.0					3																	151012286		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012286G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.748C>T	3.37:g.151012286G>A	ENSP00000260843:p.His250Tyr		Somatic				MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.H250Y	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1212	-			250					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.748C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	7.881	0.730243	0.15507	.	.	ENSG00000138271	ENST00000260843	T	0.36520	1.25	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.130715	0.52532	D	0.000063	T	0.46483	0.1395	N	0.25647	0.755	0.48395	D	0.99964	D	0.59357	0.985	P	0.60012	0.867	T	0.42916	-0.9423	10	0.59425	D	0.04	-10.9622	19.2508	0.93925	0.0:0.0:1.0:0.0	.	250	Q9BY21	GPR87_HUMAN	Y	250	ENSP00000260843:H250Y	ENSP00000260843:H250Y	H	-	1	0	GPR87	152494976	1.000000	0.71417	0.245000	0.24217	0.989000	0.77384	3.283000	0.51701	2.719000	0.93026	0.655000	0.94253	CAT		0.438	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			85	141	85	141	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	rs377549782		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1525-1527)cCt>cTt		CCR4-NOT transcription complex, subunit 6-like							133.0	128.0	130.0					4																	78641727		1907	4123	6030	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641727G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1526C>T	4.37:g.78641727G>A	ENSP00000424896:p.Pro509Leu		Somatic				CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L	p.P509L			WXS	Illumina GAIIx	Phase_I	Q96LI5	CNO6L_HUMAN			12	1656	-			509					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	12.97	2.098156	0.37048	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.80393	-1.37;-1.37;-1.37	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.302135	0.30320	U	0.009895	T	0.78253	0.4254	L	0.45352	1.415	0.80722	D	1	B	0.22604	0.072	B	0.26310	0.068	T	0.71137	-0.4680	10	0.37606	T	0.19	-2.9554	20.3921	0.98947	0.0:0.0:1.0:0.0	.	509	Q96LI5	CNO6L_HUMAN	L	509;509;516	ENSP00000424896:P509L;ENSP00000264903:P509L;ENSP00000425571:P516L	ENSP00000264903:P509L	P	-	2	0	CNOT6L	78860751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.822000	0.97130	0.650000	0.86243	CCT		0.468	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			107	168	107	168	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	387						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TAGATGATGTGCTGAGCTTCA	0.488																																						ENST00000296486.3																			0											c.(1159-1161)Cac>Aac		ethanolamine-phosphate phospho-lyase							238.0	239.0	239.0					4																	109667931		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109667931G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1159C>A	4.37:g.109667931G>T	ENSP00000296486:p.His387Asn		Somatic				ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N	p.H387N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	WXS	Illumina GAIIx	Phase_I					10	1313	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1159C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353293	0.41700	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.88	4.88	0.63580	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095266	0.64402	D	0.000001	T	0.39172	0.1068	L	0.46157	1.445	0.50632	D	0.999882	B;B;B	0.34103	0.271;0.391;0.437	B;B;B	0.35114	0.096;0.196;0.096	T	0.18681	-1.0329	9	.	.	.	-14.4414	16.5871	0.84730	0.0:0.0:1.0:0.0	.	329;381;387	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	N	387;381;329;347	ENSP00000296486:H387N;ENSP00000392269:H381N;ENSP00000427065:H329N;ENSP00000423240:H347N	.	H	-	1	0	AGXT2L1	109887380	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.130000	0.64745	2.398000	0.81561	0.650000	0.86243	CAC		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		5	422	5	422	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984772	123984772	+	Silent	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1303-1305)ggG>ggT		zinc finger protein 608							29.0	32.0	31.0					5																	123984772		2202	4293	6495	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123984772C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1305G>T	5.37:g.123984772C>A			Somatic				ZNF608_ENST00000504926.1_Silent_p.G8G	p.G435G	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1740	-		all_cancers(142;0.186)|Prostate(80;0.081)	435					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1305G>T	CCDS34219.1																																																																																				0.572	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		36	75	36	75	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1789-1791)Ggc>Tgc									10.0	13.0	12.0					5																	140482022		1584	3298	4882	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482022G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1789G>T	5.37:g.140482022G>T	ENSP00000231130:p.Gly597Cys		Somatic					p.G597C	NM_018937.2	NP_061760.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1789	+			597			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1789G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198798	0.79015	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74574	0.3734	H	0.99764	4.76	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	9	0.87932	D	0	.	16.3117	0.82873	0.0:0.0:1.0:0.0	.	597	Q9Y5E6	PCDB3_HUMAN	C	597	ENSP00000231130:G597C	ENSP00000231130:G597C	G	+	1	0	PCDHB3	140462206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	1.993000	0.58246	0.556000	0.70494	GGC		0.721	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		34	131	34	131	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2332-2334)cGg>cAg		unc-5 homolog A (C. elegans)							47.0	58.0	55.0					5																	176306459		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306459G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2333G>A	5.37:g.176306459G>A	ENSP00000332737:p.Arg778Gln		Somatic				UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	p.R778Q	NM_133369.2	NP_588610.2	WXS	Illumina GAIIx	Phase_I	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2607	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	778			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2333G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170142	0.78452	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86865	-2.18;-2.18	5.15	3.38	0.38709	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.46701	D	0.999167	P	0.36535	0.557	B	0.22386	0.039	T	0.75068	-0.3448	10	0.30078	T	0.28	-38.2605	10.3637	0.44010	0.1594:0.0:0.8406:0.0	.	778	Q6ZN44	UNC5A_HUMAN	Q	778;738	ENSP00000332737:R778Q;ENSP00000261961:R738Q	ENSP00000261961:R738Q	R	+	2	0	UNC5A	176239065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.612000	0.98347	0.765000	0.33221	0.561000	0.74099	CGG		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		83	142	83	142	---	---	---	---
ERMARD	55780	broad.mit.edu	37	6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000366773.3	+	14	1405	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E322*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	458					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTCCCCGAAGAACTCACTCG	0.502																																						ENST00000588451.1																			0											c.(964-966)Gaa>Taa		ER membrane-associated RNA degradation							76.0	67.0	70.0					6																	170175420		2203	4300	6503	SO:0001587	stop_gained	55780							g.chr6:170175420G>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1372G>T	6.37:g.170175420G>T	ENSP00000355735:p.Glu458*		Somatic				ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366773.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*	p.E322*			WXS	Illumina GAIIx	Phase_I					13	1477	+			458					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	c.964G>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	36	5.881756	0.97062	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	.	.	.	4.9	4.9	0.64082	.	0.314611	0.26510	N	0.023979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6408	0.62249	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;332;106	.	ENSP00000355733:E106X	E	+	1	0	C6orf70	169917345	0.222000	0.23652	0.006000	0.13384	0.011000	0.07611	4.253000	0.58791	2.252000	0.74401	0.461000	0.40582	GAA		0.502	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		16	34	16	34	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(544-546)aAg>aGg		valosin containing protein (p97)/p47 complex interacting protein 1		T	ARG/LYS	0,4406		0,0,2203	129.0	124.0	126.0		545	6.0	1.0	8	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	VCPIP1	NM_025054.4	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	182/1223	67578649	1,13005	2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578649T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.545A>G	8.37:g.67578649T>C	ENSP00000309031:p.Lys182Arg		Somatic					p.K182R	NM_025054.4	NP_079330.2	WXS	Illumina GAIIx	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	803	-		Lung NSC(129;0.142)|all_lung(136;0.227)	182					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.545A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	8.558	0.877171	0.17395	0.0	1.16E-4	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.96	5.96	0.96718	.	0.104266	0.64402	D	0.000003	T	0.20536	0.0494	N	0.05230	-0.09	0.43304	D	0.995302	B	0.12630	0.006	B	0.12837	0.008	T	0.11665	-1.0578	10	0.16420	T	0.52	-14.0137	16.4484	0.83959	0.0:0.0:0.0:1.0	.	182	Q96JH7	VCIP1_HUMAN	R	182	ENSP00000309031:K182R	ENSP00000309031:K182R	K	-	2	0	VCPIP1	67741203	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.828000	0.48120	2.285000	0.76669	0.533000	0.62120	AAG		0.547	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			91	132	91	132	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4810-4812)tCt>tTt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							45.0	46.0	46.0					8																	68123726		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123726G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4811C>T	8.37:g.68123726G>A	ENSP00000262215:p.Ser1604Phe		Somatic				ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	p.S1604F	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5200	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1604					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4811C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442046	0.43326	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.46819	0.86;0.86;0.86	5.23	4.34	0.51931	.	0.564019	0.17528	N	0.170974	T	0.37073	0.0990	L	0.29908	0.895	0.41117	D	0.985786	B;B;B	0.33073	0.396;0.022;0.38	B;B;B	0.32022	0.139;0.013;0.135	T	0.24977	-1.0145	10	0.48119	T	0.1	.	13.2649	0.60128	0.0:0.0:0.8316:0.1684	.	1604;1082;1058	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	F	1058;1604;442	ENSP00000428429:S1058F;ENSP00000262215:S1604F;ENSP00000430891:S442F	ENSP00000262215:S1604F	S	-	2	0	ARFGEF1	68286280	0.994000	0.37717	0.983000	0.44433	0.987000	0.75469	3.932000	0.56537	1.280000	0.44463	0.655000	0.94253	TCT		0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	36	18	36	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110420309	110420309	+	Silent	SNP	T	T	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1843-1845)gtT>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							91.0	89.0	89.0					8																	110420309		1852	4092	5944	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420309T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1845T>A	8.37:g.110420309T>A		HNSCC(38;0.096)	Somatic					p.V615V	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1949	+			615					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1845T>A	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	44	35	44	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960861	143960861	+	Intron	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:143960861C>T	ENST00000292427.4	-	1	272				CYP11B1_ENST00000377675.3_Missense_Mutation_p.R92K|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I																													ENST00000377675.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(274-276)aGg>aAg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						47.0	47.0	47.0					8																	143960861		876	1991	2867	SO:0001627	intron_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960861C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.239+129G>A	8.37:g.143960861C>T			Somatic				CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron	p.R92K			WXS	Illumina GAIIx	Phase_I	P15538	C11B1_HUMAN			2	281	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		80					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.275G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.977068	0.02197	.	.	ENSG00000160882	ENST00000377675	T	0.74526	-0.85	3.13	2.1	0.27182	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.45279	-0.9272	8	0.34782	T	0.22	.	6.6021	0.22707	0.2846:0.7154:0.0:0.0	.	92	Q4VAR0	.	K	92	ENSP00000366903:R92K	ENSP00000366903:R92K	R	-	2	0	CYP11B1	143957863	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.694000	0.25512	1.677000	0.50941	0.484000	0.47621	AGG		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			27	42	27	42	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(436-438)Tac>Cac		interferon, alpha 16							227.0	218.0	221.0					9																	21216869		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216869A>G		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.436T>C	9.37:g.21216869A>G	ENSP00000369564:p.Tyr146His		Somatic					p.Y146H	NM_002173.2	NP_002164.1	WXS	Illumina GAIIx	Phase_I	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	441	-			146					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.436T>C	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947443	0.34377	.	.	ENSG00000147885	ENST00000380216	T	0.17054	2.3	2.62	-1.8	0.07907	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37197	-0.9716	10	0.87932	D	0	.	3.437	0.07449	0.5415:0.2037:0.2548:0.0	.	146	P05015	IFN16_HUMAN	H	146	ENSP00000369564:Y146H	ENSP00000369564:Y146H	Y	-	1	0	IFNA16	21206869	0.520000	0.26250	0.004000	0.12327	0.081000	0.17604	0.916000	0.28651	-0.512000	0.06505	0.155000	0.16302	TAC		0.463	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		192	273	192	273	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96827286	96827286	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(331-333)Gga>Tga		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						111.0	109.0	110.0					10																	96827286		2203	4300	6503	SO:0001630	splice_region_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827286C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.331+1G>T	10.37:g.96827286C>A			Somatic				CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.G111*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	WXS	Illumina GAIIx	Phase_I	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	425	-		Colorectal(252;0.0397)	111					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Splice_Site	SNP	ENST00000371270.3	37	c.331G>T	CCDS7438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598566|3.598566	0.66332|0.66332	.|.	.|.	ENSG00000138115|ENSG00000138115	ENST00000371270|ENST00000535868	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.66228	.|0.2768	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61227	.|-0.7105	.|5	0.87932|0.22109	D|T	0|0.4	.|.	16.2015|16.2015	0.82084|0.82084	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	111|21	.|.	ENSP00000360317:G111X|ENSP00000437600:L21F	G|L	-|-	1|3	0|2	CYP2C8|CYP2C8	96817276|96817276	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.069000|0.069000	0.16628|0.16628	6.258000|6.258000	0.72487|0.72487	2.419000|2.419000	0.82065|0.82065	0.555000|0.555000	0.69702|0.69702	GGA|TTG		0.448	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	Nonsense_Mutation	21	173	21	173	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1306-1308)cAg>cCg		Hermansky-Pudlak syndrome 6							49.0	53.0	52.0					10																	103826538		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826538A>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1307A>C	10.37:g.103826538A>C	ENSP00000299238:p.Gln436Pro		Somatic					p.Q436P	NM_024747.5	NP_079023.2	WXS	Illumina GAIIx	Phase_I	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1392	+		Colorectal(252;0.122)	436					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1307A>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599392	0.46318	.	.	ENSG00000166189	ENST00000299238	T	0.77489	-1.1	5.27	4.08	0.47627	.	0.309345	0.31859	N	0.006942	T	0.69396	0.3106	L	0.51422	1.61	0.33902	D	0.638637	D	0.53745	0.962	B	0.42030	0.373	T	0.78526	-0.2170	10	0.49607	T	0.09	-14.828	8.3326	0.32195	0.6525:0.0:0.0:0.3475	.	436	Q86YV9	HPS6_HUMAN	P	436	ENSP00000299238:Q436P	ENSP00000299238:Q436P	Q	+	2	0	HPS6	103816528	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.206000	0.58473	2.216000	0.71823	0.459000	0.35465	CAG		0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		24	125	24	125	---	---	---	---
GSTO2	119391	broad.mit.edu	37	10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000338595.2	+	3	435	c.115C>A	c.(115-117)Cgc>Agc	p.R39S	GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000369707.2_Missense_Mutation_p.R11S|GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	39	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369707.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(31-33)Cgc>Agc		glutathione S-transferase omega 2	Glutathione(DB00143)						65.0	72.0	70.0					10																	106035064		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035064C>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.115C>A	10.37:g.106035064C>A	ENSP00000345023:p.Arg39Ser		Somatic	OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S	p.R11S	NM_001191014.1	NP_001177943.1	WXS	Illumina GAIIx	Phase_I	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	1	145	+		Colorectal(252;0.178)						A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.31C>A	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985324	0.53934	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000401888;ENST00000369707;ENST00000429569	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.6	4.65	0.58169	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.137725	0.64402	D	0.000005	T	0.64605	0.2613	M	0.90595	3.13	0.53688	D	0.999973	P;D;D;D	0.89917	0.808;0.983;1.0;0.999	P;D;D;D	0.76575	0.593;0.929;0.988;0.973	T	0.69971	-0.5000	10	0.62326	D	0.03	-22.9183	12.3271	0.55018	0.255:0.7449:0.0:0.0	.	11;39;39;39	B4DML4;B4DJW6;B4DU59;Q9H4Y5	.;.;.;GSTO2_HUMAN	S	39;39;39;39;11;11	ENSP00000345023:R39S;ENSP00000390986:R39S;ENSP00000386011:R39S;ENSP00000358721:R11S;ENSP00000407381:R11S	ENSP00000345023:R39S	R	+	1	0	GSTO2	106025054	0.707000	0.27866	0.857000	0.33713	0.273000	0.26683	1.212000	0.32394	2.786000	0.95864	0.563000	0.77884	CGC		0.622	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		4	101	4	101	---	---	---	---
ARL2	402	broad.mit.edu	37	11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(400-402)tCc>tTc		ADP-ribosylation factor-like 2							45.0	38.0	41.0					11																	64787952		2200	4297	6497	SO:0001583	missense	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64787952C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.401C>T	11.37:g.64787952C>T	ENSP00000246747:p.Ser134Phe		Somatic				ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	p.S134F	NM_001667.3	NP_001658.2	WXS	Illumina GAIIx	Phase_I	P36404	ARL2_HUMAN			4	496	+			134					G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	c.401C>T	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449155	0.84101	.	.	ENSG00000213465	ENST00000246747;ENST00000529384	T;T	0.68025	-0.3;-0.3	5.38	4.47	0.54385	Small GTP-binding protein domain (1);	0.144206	0.47852	U	0.000207	D	0.84192	0.5418	H	0.96080	3.765	0.80722	D	1	P	0.50066	0.931	P	0.57371	0.819	D	0.87858	0.2662	10	0.87932	D	0	-13.4656	11.6199	0.51111	0.0:0.9131:0.0:0.0869	.	134	P36404	ARL2_HUMAN	F	134	ENSP00000246747:S134F;ENSP00000436021:S134F	ENSP00000246747:S134F	S	+	2	0	ARL2	64544528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.176000	0.65026	1.273000	0.44346	0.491000	0.48974	TCC		0.532	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	22	8	22	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1735-1737)tTc>tCc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							108.0	116.0	113.0					11																	130340830		2201	4296	6497	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340830T>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1736T>C	11.37:g.130340830T>C	ENSP00000299164:p.Phe579Ser		Somatic					p.F579S	NM_139055.2	NP_620686.1	WXS	Illumina GAIIx	Phase_I	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1736	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	579			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1736T>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212643	0.79240	.	.	ENSG00000166106	ENST00000299164	T	0.06371	3.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.32971	0.0847	M	0.93550	3.43	0.58432	D	0.999999	D	0.71674	0.998	P	0.62298	0.9	T	0.45527	-0.9255	9	0.87932	D	0	.	16.1081	0.81237	0.0:0.0:0.0:1.0	.	579	Q8TE58	ATS15_HUMAN	S	579	ENSP00000299164:F579S	ENSP00000299164:F579S	F	+	2	0	ADAMTS15	129846040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.192000	0.50989	2.194000	0.70268	0.533000	0.62120	TTC		0.612	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		95	231	95	231	---	---	---	---
COG6	57511	broad.mit.edu	37	13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MIR4305_ENST00000583252.1_RNA|COG6_ENST00000416691.1_Missense_Mutation_p.D131N	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(391-393)Gat>Aat		component of oligomeric golgi complex 6							53.0	57.0	56.0					13																	40239254		2201	4293	6494	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40239254G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.391G>A	13.37:g.40239254G>A	ENSP00000397441:p.Asp131Asn		Somatic				COG6_ENST00000455146.3_Missense_Mutation_p.D131N	p.D131N	NM_001145079.1	NP_001138551.1	WXS	Illumina GAIIx	Phase_I	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	4	491	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	131					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.391G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654631	0.67472	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.56103	0.48;0.48;0.48	5.72	4.88	0.63580	.	0.088146	0.85682	D	0.000000	T	0.58892	0.2154	L	0.55103	1.725	0.80722	D	1	D;B	0.57257	0.979;0.339	P;B	0.55508	0.777;0.147	T	0.54977	-0.8212	10	0.19147	T	0.46	-10.1424	13.3081	0.60363	0.0764:0.0:0.9236:0.0	.	152;131	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	131;162;131;131	ENSP00000403733:D131N;ENSP00000412877:D131N;ENSP00000397441:D131N	ENSP00000255468:D162N	D	+	1	0	COG6	39137254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.434000	0.47414	0.591000	0.81541	GAT		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			42	44	42	44	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100613165	100613165	+	IGR	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000305631.5_Missense_Mutation_p.F302S|DEGS2_ENST00000553834.1_Silent_p.V54V			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAGTCCTCAAACACAAAATC	0.632																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(904-906)tTt>tCt		delta(4)-desaturase, sphingolipid 2							130.0	121.0	124.0					14																	100613165		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613165A>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613165A>G			Somatic				DEGS2_ENST00000553834.1_Silent_p.V54V	p.F302S	NM_206918.2	NP_996801.2	WXS	Illumina GAIIx	Phase_I	Q6QHC5	DEGS2_HUMAN			3	1480	-		Melanoma(154;0.212)	302					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.905T>C		.	.	.	.	.	.	.	.	.	.	A	18.26	3.585083	0.66105	.	.	ENSG00000168350	ENST00000305631	T	0.32515	1.45	4.86	3.69	0.42338	.	0.099712	0.64402	D	0.000001	T	0.59514	0.2199	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64279	-0.6445	10	0.66056	D	0.02	-21.6428	10.6255	0.45506	0.9228:0.0:0.0772:0.0	.	302	Q6QHC5	DEGS2_HUMAN	S	302	ENSP00000307126:F302S	ENSP00000307126:F302S	F	-	2	0	DEGS2	99682918	0.993000	0.37304	0.966000	0.40874	0.993000	0.82548	7.379000	0.79691	0.689000	0.31550	0.459000	0.35465	TTT		0.632	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			59	108	59	108	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54306249	54306249	+	Silent	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000260323.11	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000545554.1_Silent_p.T383T|UNC13C_ENST00000537900.1_Silent_p.T383T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1147-1149)acC>acG		unc-13 homolog C (C. elegans)							73.0	69.0	70.0					15																	54306249		1830	4088	5918	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306249C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1149C>G	15.37:g.54306249C>G			Somatic				UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T	p.T383T			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1149	+			383					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1149C>G	CCDS45264.1																																																																																				0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	89	14	89	---	---	---	---
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020709	33020709	+	RNA	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020709G>C	ENST00000565407.2	+	0	117				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		CCCTGAGACTGTCCTGTCCAG	0.577																																						ENST00000565407.2																			0																				130.0	114.0	119.0					16																	33020709		1884	4108	5992			388255							g.chr16:33020709G>C	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020709G>C			Somatic				RP11-19N8.2_ENST00000567619.1_RNA				WXS	Illumina GAIIx	Phase_I					0	117	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.577	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			5	371	5	371	---	---	---	---
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020716	33020716	+	RNA	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020716C>G	ENST00000565407.2	+	0	124				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		ACTGTCCTGTCCAGCCTCTGG	0.582																																						ENST00000565407.2																			0																				155.0	134.0	141.0					16																	33020716		1892	4114	6006			388255							g.chr16:33020716C>G	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020716C>G			Somatic				RP11-19N8.2_ENST00000567619.1_RNA				WXS	Illumina GAIIx	Phase_I					0	124	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.582	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			10	413	10	413	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000420246.2_Missense_Mutation_p.G199V	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	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(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)	ACGCAAATTTCCTTCCACTCG	0.542		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"""		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Deletion - In frame(1)|Complex - frameshift(1)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)	central_nervous_system(8)|biliary_tract(6)|large_intestine(5)|breast(5)|peritoneum(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|pancreas(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						c.(595-597)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							118.0	106.0	110.0					17																	7578253		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.chr17:7578253C>A	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.596G>T	17.37:g.7578253C>A	ENSP00000269305:p.Gly199Val	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)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	199		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.596G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317964	0.60524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052866	0.85682	D	0.000000	D	0.99792	0.9912	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.999;0.883;0.999;0.999;0.999;1.0	D	0.97102	0.9798	10	0.87932	D	0	-10.2871	16.7921	0.85592	0.0:1.0:0.0:0.0	.	160;199;199;106;199;199;199	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	199;199;199;199;199;199;188;106;67;106;67	ENSP00000410739:G199V;ENSP00000352610:G199V;ENSP00000269305:G199V;ENSP00000398846:G199V;ENSP00000391127:G199V;ENSP00000391478:G199V;ENSP00000425104:G67V;ENSP00000423862:G106V	ENSP00000269305:G199V	G	-	2	0	TP53	7518978	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	53	27	53	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215726	8215726	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(367-369)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							69.0	73.0	71.0					17																	8215726		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215726G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.369G>A	17.37:g.8215726G>A			Somatic				ARHGEF15_ENST00000421050.1_Silent_p.P123P	p.P123P	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			2	479	+			123			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.369G>A	CCDS11139.1																																																																																				0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		21	271	21	271	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000251268.6	+	32	5676	c.5676C>G	c.(5674-5676)tgC>tgG	p.C1892W	MEGF8_ENST00000334370.4_Missense_Mutation_p.C1825W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892	PSI 4.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5473-5475)tgC>tgG		multiple EGF-like-domains 8							36.0	40.0	39.0					19																	42865114		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42865114C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5676C>G	19.37:g.42865114C>G	ENSP00000251268:p.Cys1892Trp		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	p.C1825W	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			31	6110	+		Prostate(69;0.00682)	1892					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5475C>G		.	.	.	.	.	.	.	.	.	.	C	18.34	3.603144	0.66445	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66099	-0.19;-0.19	5.54	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.61912	-0.6965	10	0.87932	D	0	-21.6471	8.0726	0.30697	0.0:0.7405:0.0:0.2595	.	1892;1825	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	1825;1892	ENSP00000334219:C1825W;ENSP00000251268:C1892W	ENSP00000251268:C1892W	C	+	3	2	MEGF8	47556954	0.417000	0.25432	0.998000	0.56505	0.981000	0.71138	0.477000	0.22196	0.681000	0.31386	0.655000	0.94253	TGC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		39	67	39	67	---	---	---	---
ZNF404	342908	broad.mit.edu	37	19	44384267	44384267	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:44384267C>A	ENST00000587539.1	-	2	30	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F|ZNF404_ENST00000588094.1_5'Flank	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCTATGGCAACATCGCTGAAT	0.378																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(31-33)Gtt>Ttt		zinc finger protein 404							109.0	113.0	111.0					19																	44384267		2134	4271	6405	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44384267C>A	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.31G>T	19.37:g.44384267C>A	ENSP00000466051:p.Val11Phe		Somatic				ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F	p.V11F	NM_001033719.2	NP_001028891.2	WXS	Illumina GAIIx	Phase_I	Q494X3	ZN404_HUMAN			2	30	-		Prostate(69;0.0352)	11			KRAB.		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.31G>T	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864496	0.51482	.	.	ENSG00000176222	ENST00000324394	T	0.10477	2.87	1.98	0.929	0.19449	Krueppel-associated box (4);	.	.	.	.	T	0.35885	0.0947	H	0.99900	4.915	0.25482	N	0.987728	P	0.52692	0.955	P	0.44946	0.465	T	0.47812	-0.9088	9	0.87932	D	0	.	7.9093	0.29780	0.0:0.8595:0.0:0.1405	.	11	Q494X3	ZN404_HUMAN	F	9	ENSP00000319479:V9F	ENSP00000319479:V9F	V	-	1	0	ZNF404	49076107	0.894000	0.30519	0.967000	0.41034	0.927000	0.56198	0.693000	0.25497	0.433000	0.26313	0.596000	0.82720	GTT		0.378	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		4	159	4	159	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378493.1	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(835-837)Gaa>Aaa		phospholipase C, beta 4							53.0	51.0	52.0					20																	9360791		2203	4296	6499	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360791G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.835G>A	20.37:g.9360791G>A	ENSP00000367754:p.Glu279Lys		Somatic				PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K	p.E279K	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			10	850	+			279					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.835G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170542	0.57584	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.154045	0.56097	D	0.000030	T	0.39358	0.1075	N	0.25144	0.715	0.80722	D	1	B;B;P;B	0.37061	0.4;0.01;0.58;0.001	B;B;B;B	0.40256	0.243;0.022;0.324;0.01	T	0.10359	-1.0633	10	0.15066	T	0.55	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	279;126;279;279	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	279;279;279;279;279;115	ENSP00000334105:E279K;ENSP00000367734:E279K;ENSP00000278655:E279K;ENSP00000367754:E279K;ENSP00000367762:E279K;ENSP00000390616:E115K	ENSP00000278655:E279K	E	+	1	0	PLCB4	9308791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.696000	0.92011	0.650000	0.86243	GAA		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	44	16	44	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906346	144906346	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2401-2403)acC>acT		SLIT and NTRK-like family, member 2							108.0	105.0	106.0					X																	144906346		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144906346C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2403C>T	X.37:g.144906346C>T			Somatic				SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T	p.T801T			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	6658	+	Acute lymphoblastic leukemia(192;6.56e-05)		801					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.2403C>T	CCDS14680.1																																																																																				0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	153	7	153	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cacfs		PDZ domain containing 2							153.0	165.0	161.0					5																	32090268		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090268delC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6714delC	5.37:g.32090268delC	ENSP00000402033:p.His2238fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs	p.H2238fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	7102	+			2238					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.6714delC	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	701	8	701	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2836-2838)gttfs		chromosome X open reading frame 22							158.0	127.0	137.0					X																	36007559		2202	4300	6502	SO:0001589	frameshift_variant	170063							g.chrX:36007559delT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2837delT	X.37:g.36007559delT	ENSP00000297866:p.Val946fs		Somatic					p.V946fs	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			16	2903	+			946					Q5JRM8|Q8N6X8	Frame_Shift_Del	DEL	ENST00000297866.5	37	c.2837delT	CCDS14237.2																																																																																				0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		38	14	38	14	---	---	---	---
