#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	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
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	16258648	16258648	+	Silent	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:16258648T>C	ENST00000375759.3	+	11	6117	c.5913T>C	c.(5911-5913)ccT>ccC	p.P1971P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1971					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAAGGAACCTGCAGAAACAC	0.597																																					p.P1971P		.											.	SPEN-298	0			c.T5913C						.						32.0	34.0	33.0					1																	16258648		2199	4292	6491	SO:0001819	synonymous_variant	23013	exon11			GGAACCTGCAGAA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5913T>C	1.37:g.16258648T>C		Somatic	67	1		WXS	Illumina HiSeq	Phase_I	76	24	NM_015001	0	0	6	9	3	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			.		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
MYSM1	114803	broad.mit.edu	37	1	59125680	59125680	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:59125680A>G	ENST00000472487.1	-	20	2515	c.2476T>C	c.(2476-2478)Ttg>Ctg	p.L826L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	826					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACATTAACAATTCCTTTGTA	0.299																																					p.L826L													.	MYSM1-501	0			c.T2476C						.						77.0	75.0	76.0					1																	59125680		1805	4073	5878	SO:0001819	synonymous_variant	114803	exon20			TTAACAATTCCTT	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2476T>C	1.37:g.59125680A>G		Somatic	82	0		WXS	Illumina HiSeq	Phase_I	85	4	NM_001085487	0	0	4	4	0	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	CCDS41343.1																																																																																			.		0.299	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
CD84	8832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	160523192	160523192	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:160523192A>G	ENST00000311224.4	-	4	802	c.736T>C	c.(736-738)Ttc>Ctc	p.F246L	CD84_ENST00000368054.3_Missense_Mutation_p.F246L|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Missense_Mutation_p.F246L|CD84_ENST00000534968.1_Missense_Mutation_p.F132L|CD84_ENST00000368051.3_Missense_Mutation_p.F246L	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	246					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACAAACGGAACAAAAACACT	0.468																																					p.F246L		.											.	CD84-93	0			c.T736C						.						92.0	91.0	92.0					1																	160523192		2203	4300	6503	SO:0001583	missense	8832	exon4			AACGGAACAAAAA	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.736T>C	1.37:g.160523192A>G	ENSP00000312367:p.Phe246Leu	Somatic	49	1		WXS	Illumina HiSeq	Phase_I	66	26	NM_001184881	0	0	2	2	0	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161810	0.38217	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056	T;T;T;T;T;T	0.62941	2.54;0.21;0.2;0.17;1.7;-0.01	4.93	-1.95	0.07548	.	2.237860	0.02657	N	0.107102	T	0.29588	0.0738	M	0.65498	2.005	0.09310	N	1	B;B;B;B;B;B	0.21606	0.001;0.058;0.004;0.016;0.027;0.021	B;B;B;B;B;B	0.17433	0.004;0.013;0.013;0.008;0.018;0.013	T	0.02070	-1.1219	10	0.19590	T	0.45	-0.0085	1.0227	0.01521	0.4506:0.1508:0.2528:0.1458	.	246;246;132;246;246;246	Q9UIB8-5;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	L	132;246;246;246;246;246	ENSP00000442845:F132L;ENSP00000357033:F246L;ENSP00000357027:F246L;ENSP00000312367:F246L;ENSP00000357030:F246L;ENSP00000353163:F246L	ENSP00000312367:F246L	F	-	1	0	CD84	158789816	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	0.086000	0.14935	-0.437000	0.07243	-0.323000	0.08544	TTC	.		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
PRKG1	5592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	53227571	53227571	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:53227571C>G	ENST00000401604.2	+	3	716	c.522C>G	c.(520-522)aaC>aaG	p.N174K	PRKG1_ENST00000373980.4_Missense_Mutation_p.N189K|PRKG1_ENST00000373985.1_Missense_Mutation_p.N162K			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	174	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTCTTTACAACTGTACCCGGA	0.383																																					p.N189K		.											.	PRKG1-523	0			c.C567G						.						154.0	141.0	145.0					10																	53227571		2203	4300	6503	SO:0001583	missense	5592	exon3			TTACAACTGTACC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.522C>G	10.37:g.53227571C>G	ENSP00000384200:p.Asn174Lys	Somatic	94	0		WXS	Illumina HiSeq	Phase_I	119	40	NM_006258	0	0	2	2	0	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475767	0.84640	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.96940	-4.18;-4.18;-1.92;-1.92	5.79	4.89	0.63831	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.115539	0.56097	D	0.000027	D	0.97983	0.9336	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.998	P;D;D	0.75484	0.82;0.985;0.986	D	0.98576	1.0648	10	0.87932	D	0	-19.8616	12.5809	0.56390	0.0:0.9197:0.0:0.0803	.	174;189;174	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	K	174;162;189;47	ENSP00000384200:N174K;ENSP00000363097:N162K;ENSP00000363092:N189K;ENSP00000363087:N47K	ENSP00000363087:N47K	N	+	3	2	PRKG1	52897577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.118000	0.31246	1.450000	0.47717	0.563000	0.77884	AAC	.		0.383	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	73406335	73406335	+	Silent	SNP	C	C	T	rs549569431	byFrequency	TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:73406335C>T	ENST00000224721.6	+	13	1430	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y	CDH23_ENST00000398809.4_Silent_p.Y470Y|CDH23_ENST00000398842.3_Silent_p.Y470Y|CDH23_ENST00000461841.3_Silent_p.Y515Y|CDH23_ENST00000299366.7_Silent_p.Y515Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAGCCTGTACGAGAACGTCA	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		19433	0.0		0.0	False		,,,				2504	0.002				p.Y470Y		.											.	CDH23-563	0			c.C1410T						.						160.0	169.0	166.0					10																	73406335		2132	4248	6380	SO:0001819	synonymous_variant	64072	exon13			CCTGTACGAGAAC	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1425C>T	10.37:g.73406335C>T		Somatic	235	0		WXS	Illumina HiSeq	Phase_I	219	64	NM_052836	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				.		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
DGKZ	8525	ucsc.edu;bcgsc.ca	37	11	46401423	46401423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:46401423G>T	ENST00000454345.1	+	32	3405	c.3280G>T	c.(3280-3282)Gag>Tag	p.E1094*	MDK_ENST00000395566.4_5'Flank|MDK_ENST00000395565.1_5'Flank|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.E684*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.E883*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.E258*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.E905*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.E910*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.E906*|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.E911*|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.E922*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.E872*|MDK_ENST00000407067.1_5'Flank	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1094					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCAGGACACCGAGCTGGCCGC	0.697																																					p.E1094X													.	DGKZ-676	0			c.G3280T						.						17.0	19.0	18.0					11																	46401423		2181	4284	6465	SO:0001587	stop_gained	8525	exon32			GACACCGAGCTGG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3280G>T	11.37:g.46401423G>T	ENSP00000412178:p.Glu1094*	Somatic	28	0		WXS	Illumina HiSeq		13	4	NM_001105540	0	0	51	71	20	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Nonsense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	38	7.279372	0.98182	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	.	.	.	3.89	3.89	0.44902	.	0.244651	0.39759	N	0.001278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.9371	0.58320	0.0:0.1641:0.8359:0.0	.	.	.	.	X	922;684;872;871;258;911;905;906;883;1094	.	ENSP00000320340:E883X	E	+	1	0	DGKZ	46357999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.243000	0.65395	2.164000	0.68074	0.549000	0.68633	GAG	.		0.697	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
SSSCA1	10534	ucsc.edu	37	11	65338205	65338205	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:65338205C>T	ENST00000309328.3	+	2	212	c.150C>T	c.(148-150)ggC>ggT	p.G50G	FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000526877.1_Silent_p.G50G|SSSCA1_ENST00000527920.1_Silent_p.G13G|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.G13G|FAM89B_ENST00000449319.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	50					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCATGCTGGGCGAGACGTGTG	0.706																																					p.G50G													.	SSSCA1-92	0			c.C150T						.						28.0	34.0	32.0					11																	65338205		2200	4295	6495	SO:0001819	synonymous_variant	10534	exon2			GCTGGGCGAGACG	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.150C>T	11.37:g.65338205C>T		Somatic	43	0		WXS	Illumina HiSeq		36	4	NM_006396	0	0	98	98	0		Silent	SNP	ENST00000309328.3	37	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872118	0.33069	.	.	ENSG00000173465	ENST00000526433	.	.	.	5.64	1.43	0.22495	.	.	.	.	.	T	0.57446	0.2054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50659	-0.8802	4	.	.	.	-12.8182	9.068	0.36475	0.2444:0.2941:0.4615:0.0	.	.	.	.	V	18	.	.	A	+	2	0	SSSCA1	65094781	0.953000	0.32496	1.000000	0.80357	0.994000	0.84299	-0.026000	0.12392	0.311000	0.23014	0.555000	0.69702	GCG	.		0.706	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396	
PC	5091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66636376	66636376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:66636376G>T	ENST00000393958.2	-	9	1056	c.963C>A	c.(961-963)taC>taA	p.Y321*	PC_ENST00000355677.3_Nonsense_Mutation_p.Y321*|PC_ENST00000393955.2_Nonsense_Mutation_p.Y321*|PC_ENST00000393960.1_Nonsense_Mutation_p.Y321*|PC_ENST00000524491.1_Nonsense_Mutation_p.Y281*	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	321	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTCGATGAAGTAGTGCTTGC	0.677																																					p.Y321X		.											.	PC-228	0			c.C963A						.						90.0	79.0	83.0					11																	66636376		2200	4295	6495	SO:0001587	stop_gained	5091	exon9			GATGAAGTAGTGC	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.963C>A	11.37:g.66636376G>T	ENSP00000377530:p.Tyr321*	Somatic	94	0		WXS	Illumina HiSeq	Phase_I	123	38	NM_000920	0	0	7	8	1	B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754004	0.96890	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	.	.	.	4.65	2.37	0.29283	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0017	6.9367	0.24470	0.3253:0.0:0.6747:0.0	.	.	.	.	X	321;321;321;281;321	.	ENSP00000347900:Y321X	Y	-	3	2	PC	66392952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.978000	0.49305	0.954000	0.37851	0.561000	0.74099	TAC	.		0.677	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
ALDH3B2	222	ucsc.edu	37	11	67432821	67432821	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:67432821C>T	ENST00000349015.3	-	7	1079	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R214Q	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	214					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAGCAATGCCCGCAGCCGCTG	0.652																																					p.R214Q													.	ALDH3B2-226	0			c.G641A						.						50.0	56.0	54.0					11																	67432821		2200	4294	6494	SO:0001583	missense	222	exon7			AATGCCCGCAGCC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.641G>A	11.37:g.67432821C>T	ENSP00000255084:p.Arg214Gln	Somatic	144	0		WXS	Illumina HiSeq		110	1	NM_001031615	0	0	46	97	51	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759224	0.15846	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.75260	-0.92;-0.92	4.16	-6.56	0.01848	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.742635	0.13033	N	0.419127	T	0.37100	0.0991	N	0.02985	-0.445	0.09310	N	0.999999	B;B	0.21688	0.059;0.025	B;B	0.21917	0.025;0.037	T	0.43376	-0.9395	10	0.11794	T	0.64	.	3.9776	0.09481	0.114:0.5449:0.1154:0.2256	.	99;214	B4DSX1;P48448	.;AL3B2_HUMAN	Q	214	ENSP00000431595:R214Q;ENSP00000255084:R214Q	ENSP00000255084:R214Q	R	-	2	0	ALDH3B2	67189397	0.002000	0.14202	0.081000	0.20488	0.909000	0.53808	-0.391000	0.07323	-1.259000	0.02468	0.462000	0.41574	CGG	.		0.652	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
GNPTAB	79158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	102147162	102147162	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:102147162T>C	ENST00000299314.7	-	19	3852	c.3590A>G	c.(3589-3591)gAg>gGg	p.E1197G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1197					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCTGCAGCTCATGCATATG	0.383																																					p.E1197G		.											.	GNPTAB-92	0			c.A3590G						.						126.0	114.0	118.0					12																	102147162		2203	4300	6503	SO:0001583	missense	79158	exon19			TGCAGCTCATGCA	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3590A>G	12.37:g.102147162T>C	ENSP00000299314:p.Glu1197Gly	Somatic	68	0		WXS	Illumina HiSeq	Phase_I	77	28	NM_024312	0	0	0	0	0	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490528	0.64074	.	.	ENSG00000111670	ENST00000299314	D	0.83163	-1.69	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88424	0.3030	10	0.39692	T	0.17	-26.24	15.9351	0.79698	0.0:0.0:0.0:1.0	.	1197	Q3T906	GNPTA_HUMAN	G	1197	ENSP00000299314:E1197G	ENSP00000299314:E1197G	E	-	2	0	GNPTAB	100671293	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.694000	0.84235	2.167000	0.68274	0.482000	0.46254	GAG	.		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
RASAL1	8437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	113565934	113565934	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:113565934T>A	ENST00000261729.5	-	4	487	c.172A>T	c.(172-174)Acg>Tcg	p.T58S	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.T58S|RASAL1_ENST00000546530.1_Missense_Mutation_p.T58S|RASAL1_ENST00000446861.3_Missense_Mutation_p.T58S			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	58	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		T -> M (in dbSNP:rs34598602). {ECO:0000269|PubMed:15489334}.		intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGGTGCACCGTGTACTCCTCC	0.617																																					p.T58S		.											.	RASAL1-229	0			c.A172T						.						197.0	195.0	196.0					12																	113565934		2203	4300	6503	SO:0001583	missense	8437	exon4			GCACCGTGTACTC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.172A>T	12.37:g.113565934T>A	ENSP00000261729:p.Thr58Ser	Somatic	327	0		WXS	Illumina HiSeq	Phase_I	349	118	NM_004658	0	0	21	36	15	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130000	0.77549	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	L	0.45137	1.4	0.41650	D	0.98912	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.698;0.994;1.0	D;D;D;P;D;D	0.91635	0.999;0.999;0.999;0.503;0.932;0.999	T	0.74191	-0.3745	10	0.36615	T	0.2	.	13.8909	0.63738	0.0:0.0:0.0:1.0	.	58;58;70;58;58;58	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	S	58	ENSP00000450244:T58S;ENSP00000261729:T58S;ENSP00000395920:T58S;ENSP00000448510:T58S	ENSP00000261729:T58S	T	-	1	0	RASAL1	112050317	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	7.259000	0.78381	1.939000	0.56221	0.402000	0.26972	ACG	.		0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
PLBD2	196463	hgsc.bcm.edu	37	12	113826272	113826272	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:113826272C>G	ENST00000280800.3	+	12	1642	c.1611C>G	c.(1609-1611)agC>agG	p.S537R	PLBD2_ENST00000545182.2_Missense_Mutation_p.S505R	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	537					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGGTGACCAGCATGTCACTGG	0.701																																					p.S537R		.											.	PLBD2-68	0			c.C1611G						.						17.0	17.0	17.0					12																	113826272		2200	4294	6494	SO:0001583	missense	196463	exon12			GACCAGCATGTCA	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1611C>G	12.37:g.113826272C>G	ENSP00000280800:p.Ser537Arg	Somatic	10	0		WXS	Illumina HiSeq	Phase_I	16	2	NM_173542	0	0	0	0	0	F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	c	14.26	2.481503	0.44147	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17054	2.3;2.3	4.64	0.45	0.16624	.	0.242419	0.42053	D	0.000770	T	0.37865	0.1019	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.954;0.999	T	0.17531	-1.0366	10	0.72032	D	0.01	-37.7263	5.6463	0.17592	0.0:0.5989:0.1458:0.2553	.	505;537	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	R	505;537	ENSP00000443463:S505R;ENSP00000280800:S537R	ENSP00000280800:S537R	S	+	3	2	PLBD2	112310655	0.083000	0.21467	0.236000	0.24074	0.573000	0.36030	0.935000	0.28924	0.507000	0.28148	0.550000	0.68814	AGC	.		0.701	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	23906994	23906994	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr13:23906994T>C	ENST00000382292.3	-	9	11294	c.11021A>G	c.(11020-11022)aAt>aGt	p.N3674S	SACS_ENST00000402364.1_Missense_Mutation_p.N2924S|SACS_ENST00000382298.3_Missense_Mutation_p.N3674S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3674					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTGTTCCATTTACCTCTTG	0.393																																					p.N3674S		.											.	SACS-298	0			c.A11021G						.						85.0	85.0	85.0					13																	23906994		2203	4300	6503	SO:0001583	missense	26278	exon10			GTTCCATTTACCT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11021A>G	13.37:g.23906994T>C	ENSP00000371729:p.Asn3674Ser	Somatic	82	0		WXS	Illumina HiSeq	Phase_I	102	43	NM_014363	0	0	2	2	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639656	0.29157	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.12;-2.27;-2.12	5.8	5.8	0.92144	.	0.045544	0.85682	D	0.000000	T	0.79118	0.4392	N	0.17082	0.46	0.33015	D	0.528049	B	0.17465	0.022	B	0.14023	0.01	T	0.78450	-0.2199	10	0.33940	T	0.23	.	16.1429	0.81539	0.0:0.0:0.0:1.0	.	3674	Q9NZJ4	SACS_HUMAN	S	3674;2924;3674	ENSP00000371729:N3674S;ENSP00000385844:N2924S;ENSP00000371735:N3674S	ENSP00000371729:N3674S	N	-	2	0	SACS	22804994	1.000000	0.71417	0.981000	0.43875	0.722000	0.41435	4.970000	0.63742	2.209000	0.71365	0.460000	0.39030	AAT	.		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
KBTBD6	89890	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	41706340	41706340	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr13:41706340C>T	ENST00000379485.1	-	1	542	c.308G>A	c.(307-309)gGc>gAc	p.G103D	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGTACATGCCACCTGTGAA	0.627																																					p.G103D		.											.	KBTBD6-92	0			c.G308A						.						64.0	50.0	55.0					13																	41706340		2203	4300	6503	SO:0001583	missense	89890	exon1			TACATGCCACCTG	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.308G>A	13.37:g.41706340C>T	ENSP00000368799:p.Gly103Asp	Somatic	54	1		WXS	Illumina HiSeq	Phase_I	50	18	NM_152903	0	0	11	16	5	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.070386	0.55539	.	.	ENSG00000165572	ENST00000379485	T	0.70399	-0.48	3.59	2.71	0.32032	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	L	0.39692	1.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67197	-0.5731	10	0.16420	T	0.52	.	10.7007	0.45926	0.0:0.8037:0.1963:0.0	.	103	Q86V97	KBTB6_HUMAN	D	103	ENSP00000368799:G103D	ENSP00000368799:G103D	G	-	2	0	KBTBD6	40604340	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.242000	0.43106	0.819000	0.34492	0.313000	0.20887	GGC	.		0.627	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
FSCB	84075	hgsc.bcm.edu	37	14	44974805	44974805	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr14:44974805A>G	ENST00000340446.4	-	1	1677	c.1386T>C	c.(1384-1386)ccT>ccC	p.P462P	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	462						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGGTCTCTTTAGGTAATGGAG	0.512																																					p.P462P		.											.	FSCB-587	0			c.T1386C						.						26.0	26.0	26.0					14																	44974805		2202	4300	6502	SO:0001819	synonymous_variant	84075	exon1			CTCTTTAGGTAAT	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1386T>C	14.37:g.44974805A>G		Somatic	49	0		WXS	Illumina HiSeq	Phase_I	57	3	NM_032135	0	0	0	0	0	Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	CCDS9679.1																																																																																			.		0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
ACTC1	70	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	35083348	35083348	+	Silent	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:35083348G>T	ENST00000290378.4	-	6	1612	c.957C>A	c.(955-957)atC>atA	p.I319I	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	319					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGAGCAGTGATTTCCTTCT	0.453																																					p.I319I													.	ACTC1-92	0			c.C957A						.						312.0	283.0	293.0					15																	35083348		2201	4298	6499	SO:0001819	synonymous_variant	70	exon6			AGCAGTGATTTCC	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.957C>A	15.37:g.35083348G>T		Somatic	311	1		WXS	Illumina HiSeq	Phase_I	319	113	NM_005159	0	0	1	1	0	P04270	Silent	SNP	ENST00000290378.4	37	CCDS10041.1																																																																																			.		0.453	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159	
IQGAP1	8826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	91009552	91009552	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:91009552G>T	ENST00000268182.5	+	17	2043	c.1919G>T	c.(1918-1920)gGc>gTc	p.G640V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G68V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	640					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGTGATGTTGGCAAAACACTG	0.443																																					p.G640V		.											.	IQGAP1-950	0			c.G1919T						.						148.0	124.0	132.0					15																	91009552		2198	4298	6496	SO:0001583	missense	8826	exon17			ATGTTGGCAAAAC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1919G>T	15.37:g.91009552G>T	ENSP00000268182:p.Gly640Val	Somatic	147	0		WXS	Illumina HiSeq	Phase_I	123	33	NM_003870	0	0	22	44	22	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470092	0.26423	.	.	ENSG00000140575	ENST00000268182	D	0.95171	-3.63	5.29	3.3	0.37823	.	0.339619	0.31268	N	0.007960	D	0.88444	0.6438	N	0.16478	0.41	0.33977	D	0.647533	B	0.02656	0.0	B	0.04013	0.001	D	0.87361	0.2344	10	0.35671	T	0.21	-7.5112	14.694	0.69107	0.0:0.4098:0.5901:0.0	.	640	P46940	IQGA1_HUMAN	V	640	ENSP00000268182:G640V	ENSP00000268182:G640V	G	+	2	0	IQGAP1	88810556	0.653000	0.27358	0.946000	0.38457	0.974000	0.67602	2.180000	0.42537	1.438000	0.47492	0.655000	0.94253	GGC	.		0.443	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
RCCD1	91433	hgsc.bcm.edu	37	15	91500668	91500668	+	Silent	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:91500668G>A	ENST00000394258.2	+	3	694	c.492G>A	c.(490-492)gaG>gaA	p.E164E	RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.E164E|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_Silent_p.E164E	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	164				RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827). {ECO:0000305}.		cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GCCAGCTGGAGCTGGGCGCCG	0.741																																					p.E164E		.											.	RCCD1-90	0			c.G492A						.						3.0	4.0	3.0					15																	91500668		1896	3773	5669	SO:0001819	synonymous_variant	91433	exon3			GCTGGAGCTGGGC		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.492G>A	15.37:g.91500668G>A		Somatic	1	0		WXS	Illumina HiSeq	Phase_I	8	4	NM_001017919	0	0	5	15	10	B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	37	CCDS32333.1																																																																																			.		0.741	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544	
PKD1	5310	ucsc.edu	37	16	2165459	2165459	+	Missense_Mutation	SNP	G	G	C	rs372961544		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:2165459G>C	ENST00000262304.4	-	10	2225	c.2017C>G	c.(2017-2019)Cca>Gca	p.P673A	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.P673A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	673					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTAGCCCTGGCCCTGACGTG	0.701																																					p.P673A													.	PKD1-91	0			c.C2017G						.	G	ALA/PRO,ALA/PRO	13,4315		0,13,2151	15.0	17.0	16.0		2017,2017	1.9	0.0	16		16	0,8514		0,0,4257	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	27,27	0,13,6408	CC,CG,GG		0.0,0.3004,0.1012	benign,benign	673/4303,673/4304	2165459	13,12829	2164	4257	6421	SO:0001583	missense	5310	exon10			GCCCTGGCCCTGA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2017C>G	16.37:g.2165459G>C	ENSP00000262304:p.Pro673Ala	Somatic	31	5		WXS	Illumina HiSeq		31	3	NM_000296	0	0	14	14	0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375442	0.24857	0.003004	0.0	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.35605	1.3;1.3	5.17	1.91	0.25777	Polycystin cation channel (1);	1.262000	0.05316	N	0.525692	T	0.32010	0.0815	L	0.56769	1.78	0.09310	N	1	P;P	0.35745	0.459;0.518	B;B	0.33254	0.16;0.114	T	0.22138	-1.0225	10	0.22706	T	0.39	.	5.259	0.15563	0.0773:0.2616:0.5267:0.1344	.	673;673	P98161-3;P98161	.;PKD1_HUMAN	A	673	ENSP00000262304:P673A;ENSP00000399501:P673A	ENSP00000262304:P673A	P	-	1	0	PKD1	2105460	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.072000	0.14617	0.524000	0.28502	0.557000	0.71058	CCA	.		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
NLRC5	84166	hgsc.bcm.edu	37	16	57099179	57099179	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:57099179G>C	ENST00000262510.6	+	33	4435	c.4210G>C	c.(4210-4212)Gcc>Ccc	p.A1404P	NLRC5_ENST00000539144.1_Missense_Mutation_p.A1375P|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1375P|NLRC5_ENST00000436936.1_Missense_Mutation_p.A1404P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1404					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGAAGTCTGCGCCCAGGCCTC	0.557																																					p.A1404P		.											.	NLRC5-159	0			c.G4210C						.						34.0	35.0	35.0					16																	57099179		2198	4300	6498	SO:0001583	missense	84166	exon32			GTCTGCGCCCAGG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4210G>C	16.37:g.57099179G>C	ENSP00000262510:p.Ala1404Pro	Somatic	55	0		WXS	Illumina HiSeq	Phase_I	54	3	NM_032206	0	0	9	9	0	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359043	0.41801	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.72505	0.6;-0.66;0.6;-0.66	3.71	-0.625	0.11548	.	.	.	.	.	T	0.69815	0.3153	M	0.65975	2.015	0.20403	N	0.999902	D	0.55385	0.971	P	0.49561	0.615	T	0.60434	-0.7264	9	0.54805	T	0.06	.	6.3118	0.21169	0.4974:0.0:0.5026:0.0	.	1404	Q86WI3	NLRC5_HUMAN	P	1404;1375;1404;1375	ENSP00000262510:A1404P;ENSP00000308886:A1375P;ENSP00000389739:A1404P;ENSP00000441727:A1375P	ENSP00000262510:A1404P	A	+	1	0	NLRC5	55656680	0.885000	0.30320	0.594000	0.28785	0.558000	0.35554	0.021000	0.13489	-0.085000	0.12573	-0.170000	0.13304	GCC	.		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
CNOT1	23019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	58620607	58620607	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:58620607T>C	ENST00000317147.5	-	7	811	c.479A>G	c.(478-480)tAc>tGc	p.Y160C	CNOT1_ENST00000441024.2_Missense_Mutation_p.Y160C|CNOT1_ENST00000569240.1_Missense_Mutation_p.Y160C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	160					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCGTCAATGTAAGAACGCAG	0.458																																					p.Y160C		.											.	CNOT1-95	0			c.A479G						.						218.0	225.0	223.0					16																	58620607		2198	4300	6498	SO:0001583	missense	23019	exon7			TCAATGTAAGAAC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.479A>G	16.37:g.58620607T>C	ENSP00000320949:p.Tyr160Cys	Somatic	397	0		WXS	Illumina HiSeq	Phase_I	385	106	NM_206999	0	0	19	20	1	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651332	0.88056	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.24350	1.86;1.86	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;P;P	0.81914	0.995;0.808;0.871	T	0.49380	-0.8946	9	.	.	.	-13.1581	15.1793	0.72941	0.0:0.0:0.0:1.0	.	160;160;160	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	160	ENSP00000320949:Y160C;ENSP00000413113:Y160C	.	Y	-	2	0	CNOT1	57178108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.041000	0.60428	0.454000	0.30748	TAC	.		0.458	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
BCO1	53630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	81298288	81298288	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:81298288A>G	ENST00000258168.2	+	5	976	c.515A>G	c.(514-516)cAt>cGt	p.H172R	BCMO1_ENST00000425577.2_Missense_Mutation_p.H103R	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCAACGTCACATCCCCATTAT	0.403																																					p.H172R		.											.	BCMO1-90	0			c.A515G						.						160.0	135.0	143.0					16																	81298288		2202	4300	6502	SO:0001583	missense	53630	exon5			CGTCACATCCCCA																												ENST00000258168.2:c.515A>G	16.37:g.81298288A>G	ENSP00000258168:p.His172Arg	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	102	31	NM_017429	0	0	5	7	2		Missense_Mutation	SNP	ENST00000258168.2	37	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125684	0.77436	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.99545	-6.13;-6.13	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94658	3.565	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.971	D	0.97280	0.9917	10	0.87932	D	0	-25.987	14.8045	0.69942	1.0:0.0:0.0:0.0	.	103;172	E7EM88;Q9HAY6	.;BCDO1_HUMAN	R	172;103	ENSP00000258168:H172R;ENSP00000400586:H103R	ENSP00000258168:H172R	H	+	2	0	BCMO1	79855789	1.000000	0.71417	0.989000	0.46669	0.843000	0.47879	8.759000	0.91667	1.896000	0.54893	0.449000	0.29647	CAT	.		0.403	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1		
MED13	9969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	60040331	60040331	+	Splice_Site	SNP	T	T	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:60040331T>G	ENST00000397786.2	-	21	4922	c.4846A>C	c.(4846-4848)Acg>Ccg	p.T1616P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1616					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGATCCATCGTGCTAAAATTT	0.398																																					p.T1616P		.											.	MED13-136	0			c.A4846C						.						62.0	60.0	60.0					17																	60040331		1850	4094	5944	SO:0001630	splice_region_variant	9969	exon21			CCATCGTGCTAAA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4845-1A>C	17.37:g.60040331T>G		Somatic	91	0		WXS	Illumina HiSeq	Phase_I	131	34	NM_005121	0	0	0	0	0	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199056	0.79015	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.76060	-0.99	5.44	4.34	0.51931	.	0.045205	0.85682	D	0.000000	T	0.76786	0.4036	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	T	0.73544	-0.3949	10	0.29301	T	0.29	-33.0615	11.6656	0.51372	0.1329:0.0:0.0:0.8671	.	1616	Q9UHV7	MED13_HUMAN	P	1616;1615	ENSP00000380888:T1616P	ENSP00000262436:T1615P	T	-	1	0	MED13	57395113	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	5.940000	0.70187	0.864000	0.35578	0.533000	0.62120	ACG	.		0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Missense_Mutation
ITGB4	3691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	73746316	73746316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:73746316G>A	ENST00000200181.3	+	28	3628	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	ITGB4_ENST00000339591.3_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000449880.2_Nonsense_Mutation_p.W1147*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1147	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTTCAACTGGCTGCCCCCTT	0.632											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.W1147X		.											.	ITGB4-227	0			c.G3441A						.						33.0	34.0	33.0					17																	73746316		2203	4300	6503	SO:0001587	stop_gained	3691	exon28			CAACTGGCTGCCC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3441G>A	17.37:g.73746316G>A	ENSP00000200181:p.Trp1147*	Somatic	58	0	1147	WXS	Illumina HiSeq	Phase_I	90	46	NM_001005731	0	0	22	24	2	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Nonsense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	45	11.812557	0.99605	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	.	.	.	X	1147	.	ENSP00000200181:W1147X	W	+	3	0	ITGB4	71257911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.280000	0.89903	2.675000	0.91044	0.655000	0.94253	TGG	.		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
NPC1	4864	hgsc.bcm.edu	37	18	21119433	21119433	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr18:21119433T>C	ENST00000269228.5	-	19	3351	c.2797A>G	c.(2797-2799)Acc>Gcc	p.T933A	NPC1_ENST00000412552.2_Splice_Site_p.T615A|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	933					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTATTCGGGTACTAGAGAGG	0.468																																					p.T933A		.											.	NPC1-92	0			c.A2797G						.						53.0	44.0	47.0					18																	21119433		2203	4300	6503	SO:0001630	splice_region_variant	4864	exon19			TTCGGGTACTAGA	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2796-1A>G	18.37:g.21119433T>C		Somatic	24	0		WXS	Illumina HiSeq	Phase_I	30	2	NM_000271	0	0	1	1	0	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296914	0.81025	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.93189	-3.18;-3.18	5.47	5.47	0.80525	.	0.046376	0.85682	D	0.000000	D	0.95351	0.8491	M	0.86651	2.83	0.80722	D	1	P;P	0.40875	0.604;0.731	B;P	0.46208	0.354;0.507	D	0.95927	0.8935	10	0.72032	D	0.01	-36.1746	15.8487	0.78910	0.0:0.0:0.0:1.0	.	944;933	Q59GR1;O15118	.;NPC1_HUMAN	A	933;615	ENSP00000269228:T933A;ENSP00000408606:T615A	ENSP00000269228:T933A	T	-	1	0	NPC1	19373431	1.000000	0.71417	0.993000	0.49108	0.489000	0.33432	5.949000	0.70257	2.197000	0.70478	0.533000	0.62120	ACC	.		0.468	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	Missense_Mutation
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	50683788	50683788	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr18:50683788A>T	ENST00000442544.2	+	8	1940	c.1324A>T	c.(1324-1326)Agc>Tgc	p.S442C	DCC_ENST00000581580.1_Missense_Mutation_p.S97C|DCC_ENST00000412726.1_Missense_Mutation_p.S290C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	442	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGGTTTCCAGCCGATTTGT	0.532																																					p.S442C		.											.	DCC-225	0			c.A1324T						.						169.0	154.0	159.0					18																	50683788		2203	4300	6503	SO:0001583	missense	1630	exon8			GTTTCCAGCCGAT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1324A>T	18.37:g.50683788A>T	ENSP00000389140:p.Ser442Cys	Somatic	215	1		WXS	Illumina HiSeq	Phase_I	239	77	NM_005215	0	0	0	0	0		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.764133	0.49574	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T;T	0.60672	0.17;0.23;0.17	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	M	0.81942	2.565	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.99;0.99;0.991	T	0.80266	-0.1454	10	0.72032	D	0.01	.	14.4926	0.67663	1.0:0.0:0.0:0.0	.	290;290;442	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	442;375;290	ENSP00000389140:S442C;ENSP00000304146:S375C;ENSP00000397322:S290C	ENSP00000304146:S375C	S	+	1	0	DCC	48937786	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.400000	0.90200	2.076000	0.62316	0.459000	0.35465	AGC	.		0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	1061844	1061844	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:1061844G>A	ENST00000263094.6	+	41	5758	c.5527G>A	c.(5527-5529)Gac>Aac	p.D1843N	ABCA7_ENST00000435683.2_Missense_Mutation_p.D1705N|ABCA7_ENST00000433129.1_Missense_Mutation_p.D1843N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1843	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACGGGGGACACATTGGC	0.642																																					p.D1843N		.											.	ABCA7-98	0			c.G5527A						.						98.0	83.0	88.0					19																	1061844		2203	4299	6502	SO:0001583	missense	10347	exon41			ACGGGGGACACAT	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5527G>A	19.37:g.1061844G>A	ENSP00000263094:p.Asp1843Asn	Somatic	72	0		WXS	Illumina HiSeq	Phase_I	60	16	NM_019112	0	0	13	23	10	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975956	0.53720	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96200	-3.94;-3.94	3.57	2.52	0.30459	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.94837	0.8332	L	0.27053	0.805	0.43133	D	0.994875	D;D	0.76494	0.999;0.978	D;P	0.79784	0.993;0.906	D	0.93757	0.7063	9	0.87932	D	0	.	9.6422	0.39846	0.1075:0.0:0.8925:0.0	.	968;1843	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	N	1843	ENSP00000263094:D1843N;ENSP00000414062:D1843N	ENSP00000263094:D1843N	D	+	1	0	ABCA7	1012844	1.000000	0.71417	0.969000	0.41365	0.089000	0.18198	7.374000	0.79633	0.692000	0.31613	-0.258000	0.10820	GAC	.		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
SHD	56961	broad.mit.edu	37	19	4284873	4284873	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:4284873G>C	ENST00000543264.2	+	4	2151	c.688G>C	c.(688-690)Gac>Cac	p.D230H	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Missense_Mutation_p.D230H	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	230										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCGTGTGGACCCAGCCCT	0.607																																					p.D230H													.	SHD-90	0			c.G688C						.						38.0	45.0	42.0					19																	4284873		2203	4300	6503	SO:0001583	missense	56961	exon4			CGTGTGGACCCAG	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.688G>C	19.37:g.4284873G>C	ENSP00000446058:p.Asp230His	Somatic	85	1		WXS	Illumina HiSeq	Phase_I	59	3	NM_020209	0	0	0	0	0	Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671070	0.88348	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.40756	1.02	4.44	4.44	0.53790	SH2 motif (1);	0.053023	0.64402	D	0.000001	T	0.61825	0.2378	M	0.66297	2.02	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.65948	-0.6044	10	0.72032	D	0.01	-20.3921	14.5886	0.68347	0.0:0.0:1.0:0.0	.	137;230	Q9NPN8;Q96IW2	.;SHD_HUMAN	H	230;145	ENSP00000446058:D230H	ENSP00000221852:D145H	D	+	1	0	SHD	4235873	1.000000	0.71417	0.957000	0.39632	0.780000	0.44128	8.569000	0.90744	2.306000	0.77630	0.491000	0.48974	GAC	.		0.607	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	
SH2D3A	10045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	6760836	6760836	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:6760836A>G	ENST00000245908.6	-	3	501	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	78	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGTTGAAAGAGGGCTGTG	0.642																																					p.F78L		.											.	SH2D3A-290	0			c.T232C						.						64.0	63.0	64.0					19																	6760836		2203	4300	6503	SO:0001583	missense	10045	exon3			GTTGAAAGAGGGC	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.232T>C	19.37:g.6760836A>G	ENSP00000245908:p.Phe78Leu	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	99	32	NM_005490	0	0	4	8	4	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431070	0.62844	.	.	ENSG00000125731	ENST00000245908	T	0.65178	-0.14	4.88	4.88	0.63580	SH2 motif (4);	0.000000	0.43747	D	0.000537	T	0.66366	0.2782	M	0.74546	2.27	0.80722	D	1	B	0.33883	0.43	B	0.39876	0.312	T	0.71310	-0.4631	10	0.87932	D	0	-15.1205	12.5273	0.56093	1.0:0.0:0.0:0.0	.	78	Q9BRG2	SH23A_HUMAN	L	78	ENSP00000245908:F78L	ENSP00000245908:F78L	F	-	1	0	SH2D3A	6711836	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	7.241000	0.78201	2.062000	0.61559	0.454000	0.30748	TTT	.		0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	
MAP2K7	5609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	7976338	7976338	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:7976338A>G	ENST00000397979.3	+	9	1008	c.954A>G	c.(952-954)ggA>ggG	p.G318G	MAP2K7_ENST00000397981.3_Silent_p.G325G|MAP2K7_ENST00000545011.1_Silent_p.G360G|MAP2K7_ENST00000397983.3_Silent_p.G334G|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGGCAACAGGACAGTTTCCCT	0.607																																					p.G318G		.											.	MAP2K7-1450	0			c.A954G						.						44.0	49.0	47.0					19																	7976338		1939	4121	6060	SO:0001819	synonymous_variant	5609	exon9			AACAGGACAGTTT	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.954A>G	19.37:g.7976338A>G		Somatic	76	0		WXS	Illumina HiSeq	Phase_I	40	12	NM_145185	0	0	22	38	16	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	CCDS42491.1																																																																																			.		0.607	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
ZNF799	90576	ucsc.edu	37	19	12502924	12502924	+	Silent	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:12502924A>T	ENST00000430385.3	-	4	488	c.288T>A	c.(286-288)acT>acA	p.T96T	ZNF799_ENST00000419318.1_Silent_p.T64T|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Silent_p.T96T	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGGAAGAGTGTTCTTGG	0.413																																					p.T96T													.	ZNF799-74	0			c.T288A						.						111.0	104.0	107.0					19																	12502924		2203	4300	6503	SO:0001819	synonymous_variant	90576	exon4			AGGAAGAGTGTTC	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.288T>A	19.37:g.12502924A>T		Somatic	90	1		WXS	Illumina HiSeq		104	4	NM_001080821	0	0	9	13	4		Silent	SNP	ENST00000430385.3	37	CCDS45989.1																																																																																			.		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
SLC27A1	376497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	17615314	17615314	+	Missense_Mutation	SNP	C	C	T	rs149575978	byFrequency	TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:17615314C>T	ENST00000252595.7	+	12	1931	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R612C|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R433C|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	612					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTTTGACCCACGCCAGACCTC	0.602													C|||	7	0.00139776	0.0038	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.002				p.R612C		.											.	SLC27A1-226	0			c.C1834T						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	77.0	83.0		1834	3.0	0.6	19	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC27A1	NM_198580.1	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	612/647	17615314	3,13003	2203	4300	6503	SO:0001583	missense	376497	exon12			GACCCACGCCAGA	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1834C>T	19.37:g.17615314C>T	ENSP00000252595:p.Arg612Cys	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	116	32	NM_198580	0	0	38	72	34	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.143	0.582248	0.13749	2.27E-4	2.33E-4	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.50001	0.76;0.76	4.13	3.0	0.34707	.	0.130544	0.52532	D	0.000072	T	0.43344	0.1243	M	0.61703	1.905	0.29136	N	0.879322	B;B	0.16396	0.002;0.017	B;B	0.09377	0.002;0.004	T	0.50118	-0.8865	10	0.62326	D	0.03	-6.0443	10.9108	0.47108	0.0:0.8075:0.1925:0.0	.	433;612	B7Z662;Q6PCB7	.;S27A1_HUMAN	C	612	ENSP00000413424:R612C;ENSP00000252595:R612C	ENSP00000252595:R612C	R	+	1	0	SLC27A1	17476314	0.000000	0.05858	0.593000	0.28771	0.007000	0.05969	0.553000	0.23391	1.831000	0.53308	0.561000	0.74099	CGC	C|1.000;T|0.000		0.602	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
DMWD	1762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	46294234	46294234	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:46294234C>A	ENST00000270223.6	-	2	598	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.G185C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	185										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCTGAGAAGCCCACCAGCAGC	0.557																																					p.G185C		.											.	DMWD-90	0			c.G553T						.						162.0	154.0	157.0					19																	46294234		2203	4300	6503	SO:0001583	missense	1762	exon2			AGAAGCCCACCAG	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.553G>T	19.37:g.46294234C>A	ENSP00000270223:p.Gly185Cys	Somatic	149	1		WXS	Illumina HiSeq	Phase_I	128	41	NM_004943	0	0	39	71	32		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.060250	0.76074	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.41758	0.99;0.99	4.44	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.156128	0.41396	D	0.000891	T	0.53481	0.1799	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65874	0.939;0.871	T	0.56074	-0.8039	10	0.87932	D	0	-24.3543	10.5669	0.45177	0.0:0.9038:0.0:0.0962	.	185;185	G5E9A7;Q09019	.;DMWD_HUMAN	C	185	ENSP00000366964:G185C;ENSP00000270223:G185C	ENSP00000270223:G185C	G	-	1	0	DMWD	50986074	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.467000	0.66737	1.225000	0.43566	0.561000	0.74099	GGC	.		0.557	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943	
ZNF613	79898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52448014	52448014	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:52448014G>T	ENST00000293471.6	+	6	1557	c.878G>T	c.(877-879)tGt>tTt	p.C293F	ZNF613_ENST00000391794.4_Missense_Mutation_p.C257F	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGCAGTGATTGTGGAAAAGGC	0.438																																					p.C293F		.											.	ZNF613-91	0			c.G878T						.						67.0	73.0	71.0					19																	52448014		2203	4300	6503	SO:0001583	missense	79898	exon6			GTGATTGTGGAAA	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.878G>T	19.37:g.52448014G>T	ENSP00000293471:p.Cys293Phe	Somatic	91	0		WXS	Illumina HiSeq	Phase_I	107	30	NM_001031721	0	0	2	5	3	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176698	0.57692	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	D;D	0.85861	-2.04;-2.04	3.1	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002824	D	0.94673	0.8282	H	0.97415	4	0.43662	D	0.99608	D	0.89917	1.0	D	0.91635	0.999	D	0.96089	0.9060	10	0.87932	D	0	.	13.4498	0.61163	0.0:0.0:1.0:0.0	.	293	Q6PF04	ZN613_HUMAN	F	293;257	ENSP00000293471:C293F;ENSP00000375671:C257F	ENSP00000293471:C293F	C	+	2	0	ZNF613	57139826	1.000000	0.71417	0.876000	0.34364	0.804000	0.45430	8.406000	0.90216	1.730000	0.51580	0.655000	0.94253	TGT	.		0.438	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840	
ZNF845	91664	broad.mit.edu	37	19	53855052	53855052	+	Missense_Mutation	SNP	A	A	G	rs62115343		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:53855052A>G	ENST00000595091.1	+	5	1343	c.1124A>G	c.(1123-1125)aAa>aGa	p.K375R	ZNF845_ENST00000458035.1_Missense_Mutation_p.K375R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACATAGGAAAATTCATACT	0.403																																					p.K375R													.	.	0			c.A1124G						.						31.0	31.0	31.0					19																	53855052		692	1591	2283	SO:0001583	missense	91664	exon4			ATAGGAAAATTCA	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1124A>G	19.37:g.53855052A>G	ENSP00000470005:p.Lys375Arg	Somatic	43	0		WXS	Illumina HiSeq	Phase_I	59	3	NM_138374	0	4	13	42	25		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	2.473	-0.321469	0.05386	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.17213	2.29	2.05	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.00879	-1.12	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.26430	-1.0103	9	0.02654	T	1	.	0.7406	0.00973	0.2094:0.1443:0.3556:0.2906	rs62115343	375	Q96IR2	ZN845_HUMAN	R	375	ENSP00000388311:K375R	ENSP00000412086:K375R	K	+	2	0	ZNF845	58546864	0.000000	0.05858	0.000000	0.03702	0.786000	0.44442	-0.260000	0.08708	-1.557000	0.01692	0.172000	0.16884	AAA	.		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
KCNIP3	30818	hgsc.bcm.edu	37	2	96012772	96012772	+	Intron	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:96012772G>C	ENST00000295225.5	+	3	316				KCNIP3_ENST00000468529.1_Missense_Mutation_p.G2A|KCNIP3_ENST00000377181.2_Intron|KCNIP3_ENST00000360990.3_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin						apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CTTGCCATGGGCATCCAGGGC	0.716																																					p.G2A		.											.	KCNIP3-154	0			c.G5C						.						62.0	51.0	55.0					2																	96012772		2203	4300	6503	SO:0001627	intron_variant	30818	exon1			CCATGGGCATCCA	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.182-27272G>C	2.37:g.96012772G>C		Somatic	25	0		WXS	Illumina HiSeq	Phase_I	25	3	NM_001034914	0	0	42	42	0	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	g	10.76	1.440425	0.25900	.	.	ENSG00000115041	ENST00000468529	T	0.69435	-0.4	3.04	3.04	0.35103	.	.	.	.	.	T	0.57607	0.2065	.	.	.	0.80722	D	1	B	0.21452	0.056	B	0.18561	0.022	T	0.61192	-0.7112	8	0.62326	D	0.03	.	11.8579	0.52449	0.0:0.0:1.0:0.0	.	2	Q9Y2W7-3	.	A	2	ENSP00000417499:G2A	ENSP00000417499:G2A	G	+	2	0	KCNIP3	95376499	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.744000	0.68664	1.671000	0.50874	0.290000	0.19541	GGC	.		0.716	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434	
ADRA2B	151	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	96781259	96781259	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:96781259C>T	ENST00000409345.3	-	1	725	c.630G>A	c.(628-630)aaG>aaA	p.K210K		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	210					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGGCCCCCCCTTGGCCCTGG	0.622																																					p.K210K													.	ADRA2B-229	0			c.G630A						.						32.0	35.0	34.0					2																	96781259		2038	4173	6211	SO:0001819	synonymous_variant	151	exon1			CCCCCCCTTGGCC	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.630G>A	2.37:g.96781259C>T		Somatic	47	0		WXS	Illumina HiSeq	Phase_I	36	6	NM_000682	0	0	0	0	0	Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																			.		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
TTN	7273	hgsc.bcm.edu	37	2	179611917	179611917	+	Intron	SNP	T	T	C	rs578160962		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:179611917T>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.L5070L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCTCTCTAGAGTCTCTC	0.522													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0				p.L5070L		.											.	TTN-636	0			c.A15210G						.						70.0	74.0	72.0					2																	179611917		2203	4300	6503	SO:0001627	intron_variant	7273	exon46			TCTCTCTAGAGTC	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.10361-5269A>G	2.37:g.179611917T>C		Somatic	123	1		WXS	Illumina HiSeq	Phase_I	133	8	NM_133379	0	0	0	0	0	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	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PGAP1	80055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	197767380	197767380	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:197767380C>T	ENST00000354764.4	-	5	850	c.736G>A	c.(736-738)Gat>Aat	p.D246N	PGAP1_ENST00000409188.1_Missense_Mutation_p.D204N|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.D246N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	246					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTTGGTAATCCCGGAATCCT	0.353																																					p.D246N		.											.	PGAP1-93	0			c.G736A						.						89.0	96.0	94.0					2																	197767380		2203	4300	6503	SO:0001583	missense	80055	exon5			GGTAATCCCGGAA		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.736G>A	2.37:g.197767380C>T	ENSP00000346809:p.Asp246Asn	Somatic	98	0		WXS	Illumina HiSeq	Phase_I	90	32	NM_024989	0	0	0	1	1	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812990	0.90707	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.96491	-4.03;-4.03;-4.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	M	0.92122	3.275	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99628	1.0985	10	0.87932	D	0	-16.6327	18.3788	0.90443	0.0:1.0:0.0:0.0	.	204;246;246	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	246;246;204	ENSP00000346809:D246N;ENSP00000387028:D246N;ENSP00000386802:D204N	ENSP00000346809:D246N	D	-	1	0	PGAP1	197475625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.568000	0.86640	0.650000	0.86243	GAT	.		0.353	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
LRRFIP1	9208	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	238636568	238636568	+	Intron	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:238636568G>C	ENST00000392000.4	+	4	366				LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R145T	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGAATAGAAGATCTGGCAGG	0.318																																					p.R145T		.											.	LRRFIP1-153	0			c.G434C						.						204.0	199.0	201.0					2																	238636568		1568	3582	5150	SO:0001627	intron_variant	9208	exon8			ATAGAAGATCTGG	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.249+7103G>C	2.37:g.238636568G>C		Somatic	194	0		WXS	Illumina HiSeq	Phase_I	189	66	NM_001137550	0	0	0	0	0	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945238	0.53079	.	.	ENSG00000124831	ENST00000308482;ENST00000391999;ENST00000420665	T	0.48201	0.82	5.3	4.2	0.49525	.	.	.	.	.	T	0.29288	0.0729	N	0.24115	0.695	0.80722	D	1	B	0.31318	0.319	B	0.32624	0.149	T	0.08207	-1.0733	9	0.23891	T	0.37	.	5.5337	0.16999	0.2308:0.0:0.7692:0.0	.	145	E9PGZ2	.	T	145;135;100	ENSP00000310109:R145T	ENSP00000310109:R145T	R	+	2	0	LRRFIP1	238301307	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.587000	0.53957	2.652000	0.90054	0.655000	0.94253	AGA	.		0.318	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
LAMA5	3911	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	60927089	60927089	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr20:60927089G>T	ENST00000252999.3	-	5	800	c.734C>A	c.(733-735)tCc>tAc	p.S245Y	RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.S245Y|LAMA5_ENST00000370692.3_Missense_Mutation_p.S245Y|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	245	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGCGAGTAGGAGAAATTCAT	0.637																																					p.S245Y													.	LAMA5-93	0			c.C734A						.						85.0	62.0	70.0					20																	60927089		2202	4298	6500	SO:0001583	missense	3911	exon5			GAGTAGGAGAAAT	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.734C>A	20.37:g.60927089G>T	ENSP00000252999:p.Ser245Tyr	Somatic	26	0		WXS	Illumina HiSeq	Phase_I	23	9	NM_005560	0	0	9	10	1	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.066561	0.76187	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.75704	-0.96;-0.96;-0.96	4.34	4.34	0.51931	Laminin, N-terminal (3);	0.000000	0.85682	U	0.000000	T	0.80281	0.4594	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83490	0.0069	10	0.87932	D	0	.	16.8522	0.85996	0.0:0.0:1.0:0.0	.	245	O15230	LAMA5_HUMAN	Y	245	ENSP00000252999:S245Y;ENSP00000359726:S245Y;ENSP00000359711:S245Y	ENSP00000252999:S245Y	S	-	2	0	LAMA5	60360484	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.661000	0.98601	1.973000	0.57446	0.486000	0.48141	TCC	.		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
MKL1	57591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	40803806	40803806	+	IGR	SNP	A	A	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr22:40803806A>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Missense_Mutation_p.K446T|SGSM3_ENST00000248929.9_Missense_Mutation_p.K513T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGTCTCAGAAGGACGAGCAC	0.622			T	RBM15	acute megakaryocytic leukemia																																p.K513T		.		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	SGSM3-494	0			c.A1538C						.						60.0	61.0	60.0					22																	40803806		2203	4300	6503	SO:0001628	intergenic_variant	27352	exon14			CTCAGAAGGACGA	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803806A>C		Somatic	83	0		WXS	Illumina HiSeq	Phase_I	108	31	NM_015705	0	0	3	4	1	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958990	0.92726	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.49720	0.77;0.77	5.23	5.23	0.72850	Src homology-3 domain (4);	0.045898	0.85682	D	0.000000	T	0.47911	0.1471	N	0.04820	-0.15	0.80722	D	1	D;D;D;D	0.65815	0.985;0.958;0.981;0.995	P;P;P;D	0.69479	0.876;0.904;0.905;0.964	T	0.61222	-0.7106	10	0.87932	D	0	.	15.4205	0.75006	1.0:0.0:0.0:0.0	.	450;446;541;513	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	T	513;446	ENSP00000248929:K513T;ENSP00000390998:K446T	ENSP00000248929:K513T	K	+	2	0	SGSM3	39133752	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.528000	0.90598	2.109000	0.64355	0.459000	0.35465	AAG	.		0.622	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831	
NKIRAS1	28512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	23942484	23942484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:23942484G>A	ENST00000443659.2	-	3	928	c.151C>T	c.(151-153)Cga>Tga	p.R51*	NKIRAS1_ENST00000388759.3_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000421515.2_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000437230.1_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000412028.1_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000425478.2_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000415901.2_Nonsense_Mutation_p.R51*|NKIRAS1_ENST00000416026.2_Nonsense_Mutation_p.R51*			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	51					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TTTACTCCTCGGTCTGTTTCT	0.403																																					p.R51X		.											.	NKIRAS1-659	0			c.C151T						.						182.0	179.0	180.0					3																	23942484		2203	4300	6503	SO:0001587	stop_gained	28512	exon4			CTCCTCGGTCTGT	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.151C>T	3.37:g.23942484G>A	ENSP00000393785:p.Arg51*	Somatic	166	1		WXS	Illumina HiSeq	Phase_I	193	56	NM_020345	0	0	9	16	7	Q96K18	Nonsense_Mutation	SNP	ENST00000443659.2	37	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	G	44	10.950539	0.99494	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	.	.	.	5.56	5.56	0.83823	.	0.058012	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-18.985	19.1246	0.93376	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000373411:R51X	R	-	1	2	NKIRAS1	23917488	1.000000	0.71417	0.894000	0.35097	0.950000	0.60333	7.894000	0.87336	2.618000	0.88619	0.491000	0.48974	CGA	.		0.403	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345	
VPRBP	9730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	51457622	51457622	+	Silent	SNP	C	C	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:51457622C>G	ENST00000335891.5	-	7	1464	c.1455G>C	c.(1453-1455)cgG>cgC	p.R485R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	934	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCTGGGGGGGCCGTGGCTGAG	0.592																																					p.R881R		.											.	VPRBP-92	0			c.G2643C						.						44.0	47.0	46.0					3																	51457622		1981	4163	6144	SO:0001819	synonymous_variant	9730	exon14			GGGGGGCCGTGGC	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1455G>C	3.37:g.51457622C>G		Somatic	78	0		WXS	Illumina HiSeq	Phase_I	60	27	NM_014703	0	0	15	28	13	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37																																																																																				.		0.592	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
GMPS	8833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	155654202	155654202	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:155654202A>T	ENST00000496455.2	+	15	2218	c.1883A>T	c.(1882-1884)cAg>cTg	p.Q628L	GMPS_ENST00000295920.7_Missense_Mutation_p.Q529L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	628					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTTCAAAAGCAGCCTTCATGC	0.443			T	MLL	AML																																p.Q628L	Ovarian(153;896 1876 4149 15499 28134)	.		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	GMPS-229	0			c.A1883T						.						128.0	120.0	122.0					3																	155654202		1870	4103	5973	SO:0001583	missense	8833	exon15			AAAAGCAGCCTTC	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1883A>T	3.37:g.155654202A>T	ENSP00000419851:p.Gln628Leu	Somatic	169	0		WXS	Illumina HiSeq	Phase_I	165	49	NM_003875	0	0	28	49	21	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524899	0.44969	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.55990	1.75	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.53954	-0.8365	9	0.30854	T	0.27	-12.4699	15.6641	0.77213	1.0:0.0:0.0:0.0	.	529;628	F8W720;P49915	.;GUAA_HUMAN	L	628;529;577;628	.	ENSP00000295920:Q529L	Q	+	2	0	GMPS	157136896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.800000	0.91900	2.086000	0.62901	0.459000	0.35465	CAG	.		0.443	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
PRKCI	5584	hgsc.bcm.edu;broad.mit.edu	37	3	169940480	169940480	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:169940480G>A	ENST00000295797.4	+	1	328	c.23G>A	c.(22-24)aGc>aAc	p.S8N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	8	Regulatory domain.|Required for interaction with RAB2.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AGGGACAGCAGCACCATGTCC	0.731																																					p.S8N		.											.	PRKCI-1378	0			c.G23A						.						20.0	18.0	19.0					3																	169940480		2190	4295	6485	SO:0001583	missense	5584	exon1			ACAGCAGCACCAT		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.23G>A	3.37:g.169940480G>A	ENSP00000295797:p.Ser8Asn	Somatic	22	0		WXS	Illumina HiSeq	Phase_I	19	5	NM_002740	0	0	2	2	0	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650664	0.29336	.	.	ENSG00000163558	ENST00000295797	T	0.68765	-0.35	3.88	2.98	0.34508	.	0.135420	0.44483	U	0.000449	T	0.38612	0.1047	N	0.03608	-0.345	0.24090	N	0.995912	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	9	.	.	.	.	10.6095	0.45412	0.0:0.1966:0.8033:0.0	.	8	P41743	KPCI_HUMAN	N	8	ENSP00000295797:S8N	.	S	+	2	0	PRKCI	171423174	1.000000	0.71417	0.996000	0.52242	0.287000	0.27160	1.154000	0.31688	0.711000	0.32018	0.411000	0.27672	AGC	.		0.731	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
MAP3K13	9175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	185146747	185146747	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:185146747C>T	ENST00000265026.3	+	2	712	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G126G|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGGCAGTGGCAGTGGTGGGT	0.493																																					p.G126G		.											.	MAP3K13-548	0			c.C378T						.						93.0	94.0	94.0					3																	185146747		2203	4300	6503	SO:0001819	synonymous_variant	9175	exon2			CAGTGGCAGTGGT	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.378C>T	3.37:g.185146747C>T		Somatic	80	0		WXS	Illumina HiSeq	Phase_I	94	27	NM_004721	0	0	3	6	3		Silent	SNP	ENST00000265026.3	37	CCDS3270.1																																																																																			.		0.493	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
DOK7	285489	broad.mit.edu	37	4	3478168	3478168	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:3478168T>C	ENST00000340083.5	+	4	496	c.431T>C	c.(430-432)aTc>aCc	p.I144T	DOK7_ENST00000389653.2_Missense_Mutation_p.I144T|DOK7_ENST00000507039.1_Missense_Mutation_p.I144T	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	144	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCAGGGACATCCCCCCGGCT	0.632																																					p.I144T													.	DOK7-91	0			c.T431C						.						93.0	79.0	84.0					4																	3478168		2203	4299	6502	SO:0001583	missense	285489	exon4			GGGACATCCCCCC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.431T>C	4.37:g.3478168T>C	ENSP00000344432:p.Ile144Thr	Somatic	113	1		WXS	Illumina HiSeq	Phase_I	105	3	NM_001164673	0	0	2	2	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072772	0.55646	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.69040	-0.37;-0.37;-0.37	4.42	4.42	0.53409	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.536026	0.19327	N	0.117000	T	0.57403	0.2051	L	0.43152	1.355	0.28966	N	0.88953	B	0.30406	0.278	B	0.30251	0.113	T	0.52726	-0.8537	10	0.25751	T	0.34	-2.7144	12.845	0.57825	0.0:0.0:0.0:1.0	.	144	Q18PE1	DOK7_HUMAN	T	144	ENSP00000374304:I144T;ENSP00000423614:I144T;ENSP00000344432:I144T	ENSP00000344432:I144T	I	+	2	0	DOK7	3447966	0.465000	0.25815	0.801000	0.32222	0.978000	0.69477	3.432000	0.52824	1.625000	0.50366	0.402000	0.26972	ATC	.		0.632	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
WFS1	7466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	6303094	6303094	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:6303094C>T	ENST00000226760.1	+	8	1742	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	WFS1_ENST00000503569.1_Silent_p.F524F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	524					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGAGGAATTTCAAGGGCACCT	0.597																																					p.F524F		.											.	WFS1-91	0			c.C1572T						.						119.0	105.0	109.0					4																	6303094		2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			GAATTTCAAGGGC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1572C>T	4.37:g.6303094C>T		Somatic	223	0		WXS	Illumina HiSeq	Phase_I	196	79	NM_001145853	0	0	20	31	11	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																			.		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
ADAMTS3	9508	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	73280662	73280662	+	Missense_Mutation	SNP	T	T	A	rs374567996		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:73280662T>A	ENST00000286657.4	-	4	567	c.531A>T	c.(529-531)gaA>gaT	p.E177D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	177					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAATACTCTTCATTATCAC	0.353																																					p.E177D	NSCLC(168;1941 2048 2918 13048 43078)												.	ADAMTS3-651	0			c.A531T						.						132.0	132.0	132.0					4																	73280662		2203	4300	6503	SO:0001583	missense	9508	exon4			ATACTCTTCATTA	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.531A>T	4.37:g.73280662T>A	ENSP00000286657:p.Glu177Asp	Somatic	139	0		WXS	Illumina HiSeq	Phase_I	144	15	NM_014243	0	0	1	1	0	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458851	0.43634	.	.	ENSG00000156140	ENST00000286657	T	0.06933	3.24	5.15	3.96	0.45880	Peptidase M12B, propeptide (1);	0.084546	0.43416	N	0.000568	T	0.05044	0.0135	N	0.20357	0.565	0.31403	N	0.676395	B	0.02656	0.0	B	0.04013	0.001	T	0.28522	-1.0041	10	0.14252	T	0.57	.	8.6456	0.34003	0.7492:0.0:0.0:0.2508	.	177	O15072	ATS3_HUMAN	D	177	ENSP00000286657:E177D	ENSP00000286657:E177D	E	-	3	2	ADAMTS3	73499526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	0.792000	0.33850	0.533000	0.62120	GAA	.		0.353	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
MAML3	55534	hgsc.bcm.edu;broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																					p.Q494Q		.											.	MAML3-455	0			c.G1482A						.						14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534	exon2			CTGCTGCTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T		Somatic	49	0		WXS	Illumina HiSeq	Phase_I	43	4	NM_018717	0	1	889	901	11		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																			.		0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2		
LRBA	987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	151935707	151935707	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:151935707C>A	ENST00000357115.3	-	2	331	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	LRBA_ENST00000507224.1_Missense_Mutation_p.G30W|LRBA_ENST00000535741.1_Missense_Mutation_p.G30W|LRBA_ENST00000510413.1_Missense_Mutation_p.G30W	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	30						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGCACCCCCTTCAGTAGGG	0.537																																					p.G30W		.											.	LRBA-157	0			c.G88T						.						63.0	53.0	56.0					4																	151935707		2203	4300	6503	SO:0001583	missense	987	exon2			CACCCCCTTCAGT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.88G>T	4.37:g.151935707C>A	ENSP00000349629:p.Gly30Trp	Somatic	47	0		WXS	Illumina HiSeq	Phase_I	60	23	NM_006726	0	0	6	10	4	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529711	0.64860	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.33	5.33	0.75918	.	1.239200	0.06405	U	0.719521	T	0.52386	0.1731	L	0.47716	1.5	0.37618	D	0.921196	P;P;P	0.49447	0.876;0.924;0.924	B;B;B	0.43360	0.219;0.417;0.391	T	0.50432	-0.8829	10	0.48119	T	0.1	.	11.3073	0.49342	0.0:0.9149:0.0:0.0851	.	30;30;30	P50851;Q6P1X2;P50851-2	LRBA_HUMAN;.;.	W	30	ENSP00000446299:G30W;ENSP00000421552:G30W;ENSP00000349629:G30W;ENSP00000422180:G30W	ENSP00000349629:G30W	G	-	1	0	LRBA	152155157	0.031000	0.19500	0.961000	0.40146	0.587000	0.36485	1.159000	0.31749	2.514000	0.84764	0.555000	0.69702	GGG	.		0.537	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
PLEKHG4B	153478	hgsc.bcm.edu	37	5	163211	163211	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:163211A>G	ENST00000283426.6	+	11	2006	c.1956A>G	c.(1954-1956)ccA>ccG	p.P652P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	652							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCGCAACCACTGTCCGGCC	0.667																																					p.P652P		.											.	PLEKHG4B-228	0			c.A1956G						.						11.0	11.0	11.0					5																	163211		2170	4268	6438	SO:0001819	synonymous_variant	153478	exon11			GCAACCACTGTCC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1956A>G	5.37:g.163211A>G		Somatic	5	1		WXS	Illumina HiSeq	Phase_I	12	6	NM_052909	0	0	0	0	0		Silent	SNP	ENST00000283426.6	37	CCDS34124.1																																																																																			.		0.667	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
SLC6A18	348932	broad.mit.edu	37	5	1245991	1245991	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:1245991T>G	ENST00000324642.3	+	12	1808	c.1685T>G	c.(1684-1686)cTc>cGc	p.L562R		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	562					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGGAGAAGCTCTACCCGGGC	0.711																																					p.L562R													.	SLC6A18-91	0			c.T1685G						.						20.0	22.0	21.0					5																	1245991		2200	4296	6496	SO:0001583	missense	348932	exon12			AGAAGCTCTACCC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1685T>G	5.37:g.1245991T>G	ENSP00000323549:p.Leu562Arg	Somatic	33	0		WXS	Illumina HiSeq	Phase_I	24	4	NM_182632	0	0	0	0	0		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	1.184	-0.637176	0.03557	.	.	ENSG00000164363	ENST00000324642	T	0.74947	-0.89	4.3	0.531	0.17108	.	1.329440	0.05175	N	0.500186	T	0.66886	0.2835	L	0.40543	1.245	0.09310	N	0.999999	P	0.36027	0.533	B	0.40038	0.317	T	0.50039	-0.8874	10	0.15499	T	0.54	.	7.945	0.29980	0.0:0.1401:0.0:0.8599	.	562	Q96N87	S6A18_HUMAN	R	562	ENSP00000323549:L562R	ENSP00000323549:L562R	L	+	2	0	SLC6A18	1298991	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.024000	0.12435	-0.079000	0.12707	0.254000	0.18369	CTC	.		0.711	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
XRCC4	7518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	82406899	82406899	+	Silent	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:82406899G>T	ENST00000511817.1	+	3	272	c.192G>T	c.(190-192)ggG>ggT	p.G64G	XRCC4_ENST00000338635.6_Silent_p.G64G|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.G64G|XRCC4_ENST00000282268.3_Silent_p.G64G			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	64					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGGAAAAAGGGAAATATGTTG	0.338								Non-homologous end-joining																													p.G64G		.											.	XRCC4-229	0			c.G192T						.						98.0	95.0	96.0					5																	82406899		2203	4300	6503	SO:0001819	synonymous_variant	7518	exon3			AAAAGGGAAATAT	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.192G>T	5.37:g.82406899G>T		Somatic	65	0		WXS	Illumina HiSeq	Phase_I	53	22	NM_003401	0	0	5	5	0	A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	CCDS4059.1																																																																																			.		0.338	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	
ERAP1	51752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	96139212	96139212	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:96139212G>A	ENST00000443439.2	-	2	484	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	ERAP1_ENST00000296754.3_Missense_Mutation_p.L140F|CTD-2260A17.3_ENST00000606656.1_RNA|CTD-2260A17.3_ENST00000606346.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	140					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGCCCGACAAGGAGGGGCTCG	0.557																																					p.L140F		.											.	ERAP1-70	0			c.C418T						.						63.0	70.0	68.0					5																	96139212		2203	4300	6503	SO:0001583	missense	51752	exon2			CGACAAGGAGGGG	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.418C>T	5.37:g.96139212G>A	ENSP00000406304:p.Leu140Phe	Somatic	107	0		WXS	Illumina HiSeq	Phase_I	101	40	NM_001198541	0	0	16	27	11	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100606	0.08731	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02763	4.17;4.17	5.51	2.68	0.31781	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.757856	0.12763	N	0.441158	T	0.03564	0.0102	L	0.52011	1.625	0.09310	N	1	B;B	0.15719	0.014;0.004	B;B	0.23852	0.049;0.019	T	0.48456	-0.9034	10	0.11182	T	0.66	.	9.253	0.37566	0.0:0.2989:0.4675:0.2337	.	140;140	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	F	140	ENSP00000296754:L140F;ENSP00000406304:L140F	ENSP00000296754:L140F	L	-	1	0	ERAP1	96164968	0.156000	0.22821	0.002000	0.10522	0.010000	0.07245	0.894000	0.28350	0.243000	0.21327	0.561000	0.74099	CTT	.		0.557	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
ADAMTS19	171019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	129030431	129030431	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:129030431T>G	ENST00000274487.4	+	19	2964	c.2819T>G	c.(2818-2820)gTg>gGg	p.V940G	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	940	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGACAACAGTGTCCTGCACA	0.348																																					p.V940G		.											.	ADAMTS19-295	0			c.T2819G						.						85.0	79.0	81.0					5																	129030431		2203	4300	6503	SO:0001583	missense	171019	exon19			CAACAGTGTCCTG	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2819T>G	5.37:g.129030431T>G	ENSP00000274487:p.Val940Gly	Somatic	53	2		WXS	Illumina HiSeq	Phase_I	69	22	NM_133638	0	0	0	0	0		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111892	0.56398	.	.	ENSG00000145808	ENST00000274487	T	0.64260	-0.09	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000008	T	0.80633	0.4660	H	0.94423	3.535	0.80722	D	1	D	0.56287	0.975	P	0.55455	0.776	D	0.86836	0.2014	9	.	.	.	.	14.0973	0.65032	0.0:0.0:0.0:1.0	.	940	Q8TE59	ATS19_HUMAN	G	940	ENSP00000274487:V940G	.	V	+	2	0	ADAMTS19	129058330	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.684000	0.68197	2.068000	0.61886	0.454000	0.30748	GTG	.		0.348	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
LY6G6F	259215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	31677862	31677862	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:31677862A>T	ENST00000375832.4	+	4	728	c.706A>T	c.(706-708)Att>Ttt	p.I236F	MEGT1_ENST00000503322.1_Missense_Mutation_p.I236F|LY6G6F_ENST00000556581.1_Missense_Mutation_p.I236F|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CATGCCTTGGATTCTGATGCT	0.617																																					p.I236F		.											.	LY6G6F-567	0			c.A706T						.						93.0	67.0	76.0					6																	31677862		1511	2708	4219	SO:0001583	missense	259215	exon4			CCTTGGATTCTGA		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.706A>T	6.37:g.31677862A>T	ENSP00000364992:p.Ile236Phe	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	54	17	NM_001003693	0	0	0	0	0	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015117	0.35511	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.26957	1.99;1.7;1.99	5.25	4.09	0.47781	.	0.098536	0.44688	D	0.000436	T	0.20981	0.0505	M	0.66939	2.045	0.32179	N	0.580661	D;P	0.54047	0.964;0.906	P;P	0.51101	0.659;0.546	T	0.12319	-1.0552	10	0.87932	D	0	-13.2059	7.687	0.28546	0.9038:0.0:0.0962:0.0	.	236;236	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	F	236	ENSP00000452432:I236F;ENSP00000364992:I236F;ENSP00000421232:I236F	ENSP00000364992:I236F	I	+	1	0	XXbac-BPG32J3.19;LY6G6F	31785841	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	1.214000	0.32419	0.844000	0.35094	0.477000	0.44152	ATT	.		0.617	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693	
GSTA2	2939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	52617715	52617715	+	Missense_Mutation	SNP	T	T	A	rs200252041		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:52617715T>A	ENST00000493422.1	-	5	506	c.351A>T	c.(349-351)caA>caT	p.Q117H		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	117	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCTTGGCATCTTGTTCCTCAG	0.393																																					p.Q117H		.											.	GSTA2-91	0			c.A351T						.						240.0	229.0	233.0					6																	52617715		2203	4300	6503	SO:0001583	missense	2939	exon5			GGCATCTTGTTCC	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.351A>T	6.37:g.52617715T>A	ENSP00000420168:p.Gln117His	Somatic	329	0		WXS	Illumina HiSeq	Phase_I	366	132	NM_000846	0	0	0	0	0	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	t	10.44	1.349542	0.24426	.	.	ENSG00000244067	ENST00000493422	T	0.02067	4.47	2.26	2.26	0.28386	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.539313	0.17882	N	0.158839	T	0.01092	0.0036	L	0.31926	0.97	0.09310	N	1	B	0.28233	0.204	B	0.38056	0.264	T	0.45775	-0.9238	10	0.87932	D	0	.	8.464	0.32944	0.0:0.0:0.0:1.0	.	117	P09210	GSTA2_HUMAN	H	117	ENSP00000420168:Q117H	ENSP00000420168:Q117H	Q	-	3	2	GSTA2	52725674	0.000000	0.05858	0.030000	0.17652	0.008000	0.06430	-0.493000	0.06459	1.310000	0.45006	0.254000	0.18369	CAA	T|1.000;C|0.000		0.393	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846	
CPVL	54504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	29135764	29135764	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr7:29135764G>T	ENST00000409850.1	-	8	1004	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	CPVL_ENST00000396276.3_Missense_Mutation_p.L120I|CPVL_ENST00000265394.5_Missense_Mutation_p.L120I|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	120						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCCACAAAGAGTCCAAACATG	0.468																																					p.L120I		.											.	CPVL-92	0			c.C358A						.						177.0	165.0	169.0					7																	29135764		2203	4300	6503	SO:0001583	missense	54504	exon4			CAAAGAGTCCAAA	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.358C>A	7.37:g.29135764G>T	ENSP00000387164:p.Leu120Ile	Somatic	216	0		WXS	Illumina HiSeq	Phase_I	218	71	NM_019029	1	0	250	380	129	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911407	0.92178	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.93612	0.6940	10	0.46703	T	0.11	-0.6878	18.7662	0.91874	0.0:0.0:1.0:0.0	.	120	Q9H3G5	CPVL_HUMAN	I	120;120;120;4;50;4;50	ENSP00000265394:L120I;ENSP00000379572:L120I;ENSP00000387164:L120I;ENSP00000409036:L50I;ENSP00000417015:L4I;ENSP00000395690:L50I	ENSP00000265394:L120I	L	-	1	0	CPVL	29102289	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	6.732000	0.74790	2.519000	0.84933	0.491000	0.48974	CTC	.		0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
POMZP3	22932	hgsc.bcm.edu	37	7	76255360	76255360	+	Missense_Mutation	SNP	G	G	C	rs200164764		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr7:76255360G>C	ENST00000310842.4	-	2	706	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.L8V|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	8										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GCGATCCTCAGAGTCACTGGG	0.512																																					p.L8V		.											.	POMZP3-90	0			c.C22G						.						169.0	124.0	139.0					7																	76255360		2202	4299	6501	SO:0001583	missense	22932	exon2			TCCTCAGAGTCAC	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.22C>G	7.37:g.76255360G>C	ENSP00000309233:p.Leu8Val	Somatic	32	2		WXS	Illumina HiSeq	Phase_I	43	5	NM_152992	0	0	9	88	79	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	N	6.841	0.524357	0.13066	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.16073	2.68;2.37	0.694	0.694	0.18062	.	1.516020	0.04115	N	0.315408	T	0.02649	0.0080	N	0.00063	-2.32	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44406	-0.9330	10	0.02654	T	1	.	4.5941	0.12322	0.0:0.5861:0.4139:0.0	rs1056120;rs3196740;rs17422445	8	Q6PJE2	POZP3_HUMAN	V	8	ENSP00000309233:L8V;ENSP00000405319:L8V	ENSP00000275569:L8V	L	-	1	2	POMZP3	76093296	0.946000	0.32159	0.111000	0.21465	0.250000	0.25880	0.979000	0.29500	-0.107000	0.12088	-0.363000	0.07495	CTG	.		0.512	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230	
FZD1	8321	hgsc.bcm.edu	37	7	90894862	90894862	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr7:90894862G>C	ENST00000287934.2	+	1	1080	c.667G>C	c.(667-669)Gcc>Ccc	p.A223P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	223	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGCACGGCGCCGGCGAGCT	0.682																																					p.A223P		.											.	FZD1-658	0			c.G667C						.						26.0	29.0	28.0					7																	90894862		2200	4299	6499	SO:0001583	missense	8321	exon1			CACGGCGCCGGCG	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.667G>C	7.37:g.90894862G>C	ENSP00000287934:p.Ala223Pro	Somatic	37	0		WXS	Illumina HiSeq	Phase_I	43	3	NM_003505	0	0	44	44	0	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725537	0.30593	.	.	ENSG00000157240	ENST00000287934	T	0.79247	-1.25	4.79	4.79	0.61399	Frizzled domain (5);	0.000000	0.64402	D	0.000005	T	0.58836	0.2150	N	0.03016	-0.435	0.47659	D	0.999484	B	0.17465	0.022	B	0.21708	0.036	T	0.55464	-0.8137	10	0.30078	T	0.28	.	18.0269	0.89272	0.0:0.0:1.0:0.0	.	223	Q9UP38	FZD1_HUMAN	P	223	ENSP00000287934:A223P	ENSP00000287934:A223P	A	+	1	0	FZD1	90732798	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.130000	0.64745	2.488000	0.83962	0.561000	0.74099	GCC	.		0.682	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
ASH2L	9070	broad.mit.edu;bcgsc.ca	37	8	37963231	37963231	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:37963231C>T	ENST00000343823.6	+	1	472	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	ASH2L_ENST00000250635.7_5'UTR|ASH2L_ENST00000521652.1_5'Flank|ASH2L_ENST00000428278.2_5'Flank|ASH2L_ENST00000545394.1_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	55					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GACAGTTGAGCCCAGTTCCGG	0.692																																					p.P55S													.	ASH2L-131	0			c.C163T						.						22.0	24.0	24.0					8																	37963231		2198	4294	6492	SO:0001583	missense	9070	exon1			GTTGAGCCCAGTT	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.163C>T	8.37:g.37963231C>T	ENSP00000340896:p.Pro55Ser	Somatic	31	0		WXS	Illumina HiSeq	Phase_I	48	11	NM_004674	0	0	14	27	13	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578337	0.86645	.	.	ENSG00000129691	ENST00000343823;ENST00000517719	T	0.65364	-0.15	5.78	3.95	0.45737	.	0.520604	0.19855	N	0.104556	T	0.38480	0.1042	N	0.08118	0	0.80722	D	1	B	0.20052	0.041	B	0.17098	0.017	T	0.12192	-1.0557	10	0.31617	T	0.26	.	8.2137	0.31499	0.0:0.7587:0.1574:0.0839	.	55	Q9UBL3	ASH2L_HUMAN	S	55	ENSP00000340896:P55S	ENSP00000340896:P55S	P	+	1	0	ASH2L	38082388	0.583000	0.26757	0.925000	0.36789	0.745000	0.42441	0.492000	0.22435	0.874000	0.35823	0.655000	0.94253	CCC	.		0.692	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
EIF3E	3646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	109215296	109215296	+	Silent	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:109215296A>T	ENST00000220849.5	-	12	1277	c.1215T>A	c.(1213-1215)atT>atA	p.I405I	EIF3E_ENST00000519030.1_Silent_p.I312I|EIF3E_ENST00000519517.1_5'Flank	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGGTCTTTTCAATCACTTGCT	0.393																																					p.I405I	GBM(15;360 410 8460 34179 52246)	.											.	EIF3E-188	0			c.T1215A						.						157.0	141.0	147.0					8																	109215296		2203	4297	6500	SO:0001819	synonymous_variant	3646	exon12			CTTTTCAATCACT	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1215T>A	8.37:g.109215296A>T		Somatic	88	0		WXS	Illumina HiSeq	Phase_I	112	41	NM_001568	0	0	257	444	187		Silent	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.431022	0.25726	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.7	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.5683	7.9818	0.30188	0.8114:0.0:0.0671:0.1214	.	.	.	.	R	116	.	.	X	-	1	0	EIF3E	109284472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.959000	0.40412	0.964000	0.38108	0.477000	0.44152	TGA	.		0.393	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
ZHX2	22882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	123965471	123965471	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:123965471A>G	ENST00000314393.4	+	3	2556	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	574					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAGAGATCGACTCCTGGTTC	0.512																																					p.D574G	Esophageal Squamous(94;1056 1388 11767 13799 49639)	.											.	ZHX2-227	0			c.A1721G						.						65.0	67.0	66.0					8																	123965471		2203	4300	6503	SO:0001583	missense	22882	exon3			AGATCGACTCCTG	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1721A>G	8.37:g.123965471A>G	ENSP00000314709:p.Asp574Gly	Somatic	78	1		WXS	Illumina HiSeq	Phase_I	94	35	NM_014943	0	0	67	128	61		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540777	0.45280	.	.	ENSG00000178764	ENST00000314393	D	0.96104	-3.91	5.94	3.48	0.39840	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.047074	0.85682	D	0.000000	D	0.93517	0.7931	M	0.76838	2.35	0.80722	D	1	B	0.19331	0.035	B	0.09377	0.004	D	0.90501	0.4474	10	0.46703	T	0.11	-23.565	8.1252	0.30995	0.8139:0.0:0.0656:0.1204	.	574	Q9Y6X8	ZHX2_HUMAN	G	574	ENSP00000314709:D574G	ENSP00000314709:D574G	D	+	2	0	ZHX2	124034652	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.139000	0.77314	1.079000	0.41038	0.459000	0.35465	GAC	.		0.512	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
FAM83H	286077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	144811207	144811207	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:144811207A>G	ENST00000388913.3	-	4	792	c.667T>C	c.(667-669)Tcc>Ccc	p.S223P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	223					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTTGAAGGACTTCCCAGTG	0.652																																					p.S223P		.											.	FAM83H-92	0			c.T667C						.						70.0	81.0	77.0					8																	144811207		2096	4203	6299	SO:0001583	missense	286077	exon4			TGAAGGACTTCCC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.667T>C	8.37:g.144811207A>G	ENSP00000373565:p.Ser223Pro	Somatic	154	2		WXS	Illumina HiSeq	Phase_I	139	43	NM_198488	0	0	16	35	19	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	a	21.3	4.127238	0.77549	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.01	5.01	0.66863	.	0.193102	0.46145	N	0.000314	T	0.30324	0.0761	L	0.57536	1.79	0.39172	D	0.962616	D	0.89917	1.0	D	0.80764	0.994	T	0.05354	-1.0890	10	0.56958	D	0.05	.	9.5807	0.39486	0.8435:0.0:0.0:0.1565	.	223	Q6ZRV2	FA83H_HUMAN	P	223	ENSP00000373565:S223P	ENSP00000373565:S223P	S	-	1	0	FAM83H	144883195	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.965000	0.56788	2.003000	0.58678	0.459000	0.35465	TCC	.		0.652	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
CNTNAP3	79937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	39140600	39140600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:39140600G>A	ENST00000297668.6	-	12	1865	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.R510*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.R505*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.R598*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.R598*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	598	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTCCCTCGGTGCTTGTGG	0.468																																					p.R598X		.											.	CNTNAP3-91	0			c.C1792T						.						38.0	44.0	42.0					9																	39140600		2203	4300	6503	SO:0001587	stop_gained	79937	exon12			TCCCTCGGTGCTT	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1792C>T	9.37:g.39140600G>A	ENSP00000297668:p.Arg598*	Somatic	107	0		WXS	Illumina HiSeq	Phase_I	98	32	NM_033655	0	0	1	1	0	B1AMA0|Q9C0E9	Nonsense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384365	0.82792	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	.	.	.	2.85	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	7.9696	0.30119	0.0:0.0:0.2419:0.7581	.	.	.	.	X	598;598;510;505;598	.	ENSP00000297668:R598X	R	-	1	2	CNTNAP3	39130600	0.593000	0.26840	0.377000	0.26055	0.034000	0.12701	0.720000	0.25896	0.328000	0.23435	0.440000	0.28878	CGA	.		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
SPATA31D1	389763	broad.mit.edu;bcgsc.ca	37	9	84608476	84608476	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:84608476G>C	ENST00000344803.2	+	4	3138	c.3091G>C	c.(3091-3093)Gat>Cat	p.D1031H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1031					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGTACTACAGATTTTCAAAG	0.458																																					p.D1031H													.	.	0			c.G3091C						.						156.0	160.0	159.0					9																	84608476		1852	4095	5947	SO:0001583	missense	389763	exon4			ACTACAGATTTTC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3091G>C	9.37:g.84608476G>C	ENSP00000341988:p.Asp1031His	Somatic	301	1		WXS	Illumina HiSeq	Phase_I	362	9	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918353	0.17982	.	.	ENSG00000214929	ENST00000344803	T	0.05855	3.38	0.496	0.496	0.16896	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	P	0.50272	0.933	P	0.46685	0.524	T	0.45352	-0.9267	8	0.22109	T	0.4	1.4307	.	.	.	.	1031	Q6ZQQ2	F75D1_HUMAN	H	1031	ENSP00000341988:D1031H	ENSP00000341988:D1031H	D	+	1	0	FAM75D1	83798296	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	1.217000	0.32455	0.533000	0.28675	0.537000	0.68136	GAT	.		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
INVS	27130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	103059359	103059359	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:103059359C>A	ENST00000262457.2	+	15	3132	c.2947C>A	c.(2947-2949)Ccc>Acc	p.P983T	INVS_ENST00000541287.1_Missense_Mutation_p.P887T|INVS_ENST00000262456.2_Missense_Mutation_p.P813T	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	983					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAGCAAGGCCCCCAAGAGTCC	0.498																																					p.P983T		.											.	INVS-92	0			c.C2947A						.						89.0	83.0	85.0					9																	103059359		2203	4300	6503	SO:0001583	missense	27130	exon15			AAGGCCCCCAAGA	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2947C>A	9.37:g.103059359C>A	ENSP00000262457:p.Pro983Thr	Somatic	50	0		WXS	Illumina HiSeq	Phase_I	53	31	NM_014425	0	0	2	36	34	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.983872	0.00443	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.38722	1.15;1.15;1.12	5.25	-0.716	0.11212	.	0.687064	0.14809	N	0.297151	T	0.16854	0.0405	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.13899	-1.0492	10	0.56958	D	0.05	.	3.4624	0.07537	0.1837:0.4859:0.231:0.0995	.	887;983;813	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	T	983;887;813	ENSP00000262457:P983T;ENSP00000444454:P887T;ENSP00000262456:P813T	ENSP00000262456:P813T	P	+	1	0	INVS	102099180	0.023000	0.18921	0.222000	0.23844	0.317000	0.28152	0.424000	0.21330	0.160000	0.19432	0.650000	0.86243	CCC	.		0.498	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
TFE3	7030	ucsc.edu	37	X	48895570	48895570	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:48895570G>C	ENST00000315869.7	-	5	1109	c.850C>G	c.(850-852)Ccc>Gcc	p.P284A	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	284					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GTGCCTCCGGGCAGATAGCTG	0.473			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																p.P284A				Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	.	TFE3-658	0			c.C850G						.						63.0	43.0	49.0					X																	48895570		2202	4300	6502	SO:0001583	missense	7030	exon5			CTCCGGGCAGATA	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.850C>G	X.37:g.48895570G>C	ENSP00000314129:p.Pro284Ala	Somatic	23	0		WXS	Illumina HiSeq		20	1	NM_006521	0	0	51	71	20	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650908	0.67472	.	.	ENSG00000068323	ENST00000315869	T	0.13657	2.57	5.89	5.89	0.94794	.	0.000000	0.56097	D	0.000028	T	0.11836	0.0288	L	0.36672	1.1	0.30279	N	0.791477	P	0.51057	0.941	B	0.43728	0.429	T	0.04153	-1.0973	10	0.05833	T	0.94	-14.1778	14.4424	0.67327	0.0:0.0:1.0:0.0	.	284	P19532	TFE3_HUMAN	A	284	ENSP00000314129:P284A	ENSP00000314129:P284A	P	-	1	0	TFE3	48782514	0.027000	0.19231	0.997000	0.53966	0.951000	0.60555	1.112000	0.31172	2.488000	0.83962	0.509000	0.49947	CCC	.		0.473	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521	
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	69898664	69898664	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:69898664C>T	ENST00000395889.2	-	16	1432	c.1277G>A	c.(1276-1278)aGt>aAt	p.S426N	TEX11_ENST00000374320.2_Missense_Mutation_p.S101N|TEX11_ENST00000374333.2_Missense_Mutation_p.S411N|TEX11_ENST00000344304.3_Missense_Mutation_p.S426N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	426					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCAAAACTACTGGCAGCTTG	0.338																																					p.S426N		.											.	TEX11-178	0			c.G1277A						.						111.0	97.0	102.0					X																	69898664		2203	4300	6503	SO:0001583	missense	56159	exon16			AAACTACTGGCAG	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1277G>A	X.37:g.69898664C>T	ENSP00000379226:p.Ser426Asn	Somatic	56	0		WXS	Illumina HiSeq	Phase_I	48	17	NM_001003811	0	0	0	0	0	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112373	0.08831	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.58	-1.09	0.09904	Tetratricopeptide-like helical (1);	0.437979	0.23803	N	0.044403	T	0.45875	0.1364	N	0.08118	0	0.09310	N	1	B;B	0.26195	0.119;0.144	B;B	0.30251	0.069;0.113	T	0.30416	-0.9979	9	.	.	.	0.0168	3.6866	0.08331	0.1899:0.282:0.0:0.5281	.	411;426	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	411;426;101;426	ENSP00000363453:S411N;ENSP00000379226:S426N;ENSP00000363440:S101N;ENSP00000340995:S426N	.	S	-	2	0	TEX11	69815389	0.996000	0.38824	0.062000	0.19696	0.495000	0.33615	0.274000	0.18680	-0.223000	0.09943	-0.371000	0.07208	AGT	.		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
NXF5	55998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	101096014	101096014	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:101096014T>A	ENST00000361708.2	-	8	813	c.454A>T	c.(454-456)Aag>Tag	p.K152*	NXF5_ENST00000537026.1_Nonsense_Mutation_p.K152*|NXF5_ENST00000473265.2_Nonsense_Mutation_p.K152*			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	152					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGTGATCTTCAGGGTGGCA	0.483																																					p.K152X		.											.	NXF5-204	0			c.A454T						.						150.0	137.0	141.0					X																	101096014		2201	4298	6499	SO:0001587	stop_gained	55998	exon8			TGATCTTCAGGGT	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.454A>T	X.37:g.101096014T>A	ENSP00000355286:p.Lys152*	Somatic	477	0		WXS	Illumina HiSeq	Phase_I	428	115	NM_032946	0	0	0	0	0	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Nonsense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	33	5.216054	0.95104	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	.	.	.	2.05	-1.72	0.08107	.	0.398739	0.24511	U	0.037890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	4.5662	0.12187	0.0:0.1905:0.5335:0.2761	.	.	.	.	X	152	.	ENSP00000263032:K152X	K	-	1	0	NXF5	100982670	1.000000	0.71417	0.095000	0.20976	0.203000	0.24098	0.944000	0.29043	-0.554000	0.06150	0.220000	0.17776	AAG	.		0.483	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
TBX3	6926	broad.mit.edu	37	12	115112487	115112488	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:115112487_115112488delGC	ENST00000257566.3	-	7	1641_1642	c.1252_1253delGC	c.(1252-1254)gctfs	p.A419fs	TBX3_ENST00000349155.2_Frame_Shift_Del_p.A399fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	419					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCGCTCAGCAGCGAAAAGGTGA	0.718																																					p.418_418del													.	TBX3-93	0			c.1252_1253del						.																																			SO:0001589	frameshift_variant	6926	exon7			TCAGCAGCGAAAA	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1252_1253delGC	12.37:g.115112487_115112488delGC	ENSP00000257566:p.Ala419fs	Somatic	21	0		WXS	Illumina HiSeq	Phase_I	21	8	NM_016569	0	0	0	0	0	Q8TB20|Q9UKF8	Frame_Shift_Del	DEL	ENST00000257566.3	37	CCDS9176.1																																																																																			.		0.718	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
CHRFAM7A	89832	hgsc.bcm.edu;broad.mit.edu	37	15	30665308	30665308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:30665308delA	ENST00000299847.2	-	6	654	c.201delT	c.(199-201)tttfs	p.F67fs	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	67						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CATCAAAGGGAAACCAGCGTA	0.483																																					p.F67fs		.											.	CHRFAM7A-45	0			c.201delT						.						61.0	60.0	61.0					15																	30665308		2176	4256	6432	SO:0001589	frameshift_variant	89832	exon6			.	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.201delT	15.37:g.30665308delA	ENSP00000299847:p.Phe67fs	Somatic	779	0		WXS	Illumina HiSeq	Phase_I	732	118	NM_139320	0	0	0	0	0	A8KAB9	Frame_Shift_Del	DEL	ENST00000299847.2	37	CCDS32184.1																																																																																			.		0.483	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
CBR1	873	broad.mit.edu;bcgsc.ca	37	21	37442617	37442626	+	Frame_Shift_Del	DEL	GAGCATCCGC	GAGCATCCGC	-	rs543800905	byFrequency	TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	GAGCATCCGC	GAGCATCCGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr21:37442617_37442626delGAGCATCCGC	ENST00000290349.6	+	1	379_388	c.204_213delGAGCATCCGC	c.(202-213)cagagcatccgcfs	p.QSIR68fs	CBR1_ENST00000530908.1_Frame_Shift_Del_p.QSIR68fs|CBR1_ENST00000439427.2_Frame_Shift_Del_p.QSIR68fs|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000466328.2_3'UTR|CBR1_ENST00000399191.3_Frame_Shift_Del_p.QSIR68fs|SETD4_ENST00000399201.1_Intron	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	68					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	ACGATCTGCAGAGCATCCGCGCCCTGCGCG	0.7																																					p.68_71del													.	CBR1-90	0			c.204_213del						.																																			SO:0001589	frameshift_variant	873	exon1			TCTGCAGAGCATC		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.204_213delGAGCATCCGC	21.37:g.37442617_37442626delGAGCATCCGC	ENSP00000290349:p.Gln68fs	Somatic	55	0		WXS	Illumina HiSeq	Phase_I	47	9	NM_001757	0	0	0	0	0	B2RBZ7|B4DFK7|Q3LHW8	Frame_Shift_Del	DEL	ENST00000290349.6	37	CCDS13641.1																																																																																			.		0.700	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2		
KCNJ15	3772	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	39672237	39672239	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr21:39672237_39672239delGAG	ENST00000328656.4	+	4	1357_1359	c.1054_1056delGAG	c.(1054-1056)gagdel	p.E353del	KCNJ15_ENST00000398938.2_In_Frame_Del_p.E353del|KCNJ15_ENST00000398930.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000398934.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000398932.1_In_Frame_Del_p.E353del	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	353					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	ACAGCAACTCGAGGAGAAGTACA	0.443																																					p.352_352del		.											.	KCNJ15-157	0			c.1054_1056del						.																																			SO:0001651	inframe_deletion	3772	exon4			.	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.1054_1056delGAG	21.37:g.39672240_39672242delGAG	ENSP00000331698:p.Glu353del	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	66	18	NM_002243	0	0	0	0	0	D3DSH5|O00564|Q96L28|Q99446	In_Frame_Del	DEL	ENST00000328656.4	37	CCDS13656.1																																																																																			.		0.443	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243	
TRIM2	23321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	154237027	154237027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:154237027delG	ENST00000437508.2	+	8	1778	c.1577delG	c.(1576-1578)cggfs	p.R526fs	TRIM2_ENST00000338700.5_Frame_Shift_Del_p.R553fs	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	526					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGCATACGGGGACGCTCT	0.463																																					p.R553fs		.											.	TRIM2-650	0			c.1658delG						.						80.0	90.0	87.0					4																	154237027		2203	4300	6503	SO:0001589	frameshift_variant	23321	exon8			.	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1577delG	4.37:g.154237027delG	ENSP00000415812:p.Arg526fs	Somatic	162	0		WXS	Illumina HiSeq	Phase_I	136	52	NM_015271	0	0	0	0	0	D3DP09|O60272|Q9BSI9|Q9UFZ1	Frame_Shift_Del	DEL	ENST00000437508.2	37	CCDS47147.1																																																																																			.		0.463	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
TMEM30A	55754	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	75975041	75975042	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:75975041_75975042delAT	ENST00000230461.6	-	3	687_688	c.358_359delAT	c.(358-360)atgfs	p.M120fs	TMEM30A_ENST00000475111.2_Frame_Shift_Del_p.M84fs|TMEM30A_ENST00000370050.5_Start_Codon_Del	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	120					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCATAATACATAAACACGTTG	0.327																																					p.120_120del		.											.	TMEM30A-90	0			c.358_359del						.																																			SO:0001589	frameshift_variant	55754	exon3			.	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.358_359delAT	6.37:g.75975041_75975042delAT	ENSP00000230461:p.Met120fs	Somatic	39	0		WXS	Illumina HiSeq	Phase_I	35	14	NM_018247	0	0	0	0	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Frame_Shift_Del	DEL	ENST00000230461.6	37	CCDS4983.1																																																																																			.		0.327	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247	
XIST	7503	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	73071036	73071061	+	lincRNA	DEL	AAACCCGCCATCTTTAACAATGCGGC	AAACCCGCCATCTTTAACAATGCGGC	-	rs374734284		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	AAACCCGCCATCTTTAACAATGCGGC	AAACCCGCCATCTTTAACAATGCGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:73071036_73071061delAAACCCGCCATCTTTAACAATGCGGC	ENST00000429829.1	-	0	1527_1552					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTAGGCGGCAAAACCCGCCATCTTTAACAATGCGGCAAGCCCGCCA	0.513																																					.		.											.	.	0			.						.																																					7503	.			.	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071036_73071061delAAACCCGCCATCTTTAACAATGCGGC		Somatic	227	0		WXS	Illumina HiSeq	Phase_I	212	44	.	0	0	0	0	0		RNA	DEL	ENST00000429829.1	37																																																																																				.		0.513	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:132445250_132445251insG	ENST00000333577.4	+	2	195_196	c.86_87insG	c.(85-90)ccggccfs	p.A30fs	EP400_ENST00000389561.2_Frame_Shift_Ins_p.A30fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.A30fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.A30fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.A30fs			Q96L91	EP400_HUMAN	E1A binding protein p400	30					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGAGCAGCCGGCCCACCCCA	0.653																																					p.P29fs													.	EP400-520	0			c.86_87insG						.																																			SO:0001589	frameshift_variant	57634	exon2			AGCAGCCGGCCCA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.88dupG	12.37:g.132445252_132445252dupG	ENSP00000333602:p.Ala30fs	Somatic	15	0		WXS	Illumina HiSeq	Phase_I	14	3	NM_015409	0	0	0	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37																																																																																				.		0.653	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
XIST	7503	hgsc.bcm.edu	37	X	73071061	73071062	+	lincRNA	INS	-	-	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:73071061_73071062insA	ENST00000429829.1	-	0	1526_1527					NR_001564.2				X inactive specific transcript (non-protein coding)																		AACAATGCGGCAAGCCCGCCAT	0.52																																					.		.											.	.	0			.						.																																					7503	.			.	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071063_73071063dupA		Somatic	187	0		WXS	Illumina HiSeq	Phase_I	170	37	.	0	0	0	0	0		RNA	INS	ENST00000429829.1	37																																																																																				.		0.520	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
