#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
A2M	2	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9225307	9225307	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:9225307G>T	ENST00000318602.7	-	30	4224	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1306					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.P1306Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGCAGCTCTGGCAATGAGAC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											185.0	189.0	188.0					12																	9225307		2168	4292	6460	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3917C>A	12.37:g.9225307G>T	ENSP00000323929:p.Pro1306Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956044	0.73902	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.36340	1.26	5.98	5.98	0.97165	.	0.139985	0.49305	D	0.000157	T	0.67767	0.2928	M	0.93016	3.37	0.34944	D	0.750601	D	0.61080	0.989	P	0.58970	0.849	T	0.79845	-0.1631	10	0.66056	D	0.02	.	20.0532	0.97636	0.0:0.0:1.0:0.0	.	1306	P01023	A2MG_HUMAN	Q	1306;1321	ENSP00000323929:P1306Q	ENSP00000323929:P1306Q	P	-	2	0	A2M	9116574	0.988000	0.35896	0.457000	0.27056	0.856000	0.48823	3.944000	0.56629	2.835000	0.97688	0.650000	0.86243	CCA		0.527	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014	
ABL1	25	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:133750263C>T	ENST00000318560.5	+	7	1475	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGAGATCTTGCTGCCCGAAAC	0.517			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	2	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											139.0	127.0	131.0					9																	133750263		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1094C>T	9.37:g.133750263C>T	ENSP00000323315:p.Ala365Val	Somatic		WXS	Illumina HiSeq	Phase_I	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522580	0.96431	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.63580	-0.05;-0.05	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.107177	0.64402	D	0.000006	D	0.87892	0.6292	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	D	0.92945	0.6375	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	365;402	P00519;Q59FK4	ABL1_HUMAN;.	V	180;384;365	ENSP00000361423:A384V;ENSP00000323315:A365V	ENSP00000323315:A365V	A	+	2	0	ABL1	132740084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.810000	0.86072	2.450000	0.82876	0.655000	0.94253	GCT		0.517	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313	
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu	37	5	178771139	178771139	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:178771139C>G	ENST00000251582.7	-	2	264	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E55Q	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	55					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E55Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGCGCTCCGCTCCGTGC	0.726																																																	1	Substitution - Missense(1)	kidney(1)											7.0	8.0	8.0					5																	178771139		2010	3999	6009	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.163G>C	5.37:g.178771139C>G	ENSP00000251582:p.Glu55Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486678	0.84854	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.61859	0.13;0.07	5.19	4.3	0.51218	.	0.000000	0.45361	D	0.000378	T	0.40322	0.1112	N	0.24115	0.695	0.40107	D	0.976442	B;B	0.27351	0.176;0.062	B;B	0.24541	0.054;0.017	T	0.33497	-0.9866	10	0.49607	T	0.09	.	8.3924	0.32537	0.0:0.7609:0.1572:0.0819	.	55;55	O95450-2;O95450	.;ATS2_HUMAN	Q	55	ENSP00000251582:E55Q;ENSP00000274609:E55Q	ENSP00000251582:E55Q	E	-	1	0	ADAMTS2	178703745	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	4.360000	0.59455	1.149000	0.42402	0.462000	0.41574	GAG		0.726	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244	
ADAR	103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154574246	154574246	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:154574246A>G	ENST00000368474.4	-	2	1071	c.872T>C	c.(871-873)cTt>cCt	p.L291P	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.L334P|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	291					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L291P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAAAAACTCAAGAGGATCTTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											128.0	134.0	132.0					1																	154574246		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.872T>C	1.37:g.154574246A>G	ENSP00000357459:p.Leu291Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	9.570	1.120786	0.20877	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12465	2.68;2.69;2.7	4.29	0.996	0.19844	Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.529050	0.03145	N	0.167198	T	0.02193	0.0068	N	0.04508	-0.205	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.39272	-0.9622	10	0.44086	T	0.13	-0.0446	8.6679	0.34132	0.3871:0.0:0.6129:0.0	.	291;291;291	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	P	334;291;286	ENSP00000292205:L334P;ENSP00000357459:L291P;ENSP00000431794:L286P	ENSP00000292205:L334P	L	-	2	0	ADAR	152840870	0.000000	0.05858	0.001000	0.08648	0.250000	0.25880	-0.089000	0.11180	0.388000	0.25054	0.402000	0.26972	CTT		0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111	
AHCTF1	25909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247061603	247061603	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:247061603G>T	ENST00000391829.2	-	12	1653	c.1530C>A	c.(1528-1530)ctC>ctA	p.L510L	AHCTF1_ENST00000366508.1_Silent_p.L545L|AHCTF1_ENST00000326225.3_Silent_p.L519L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	510	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L510L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGAGTTCATTGAGTGATGGAC	0.343																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - coding silent(1)	kidney(1)											118.0	117.0	117.0					1																	247061603		2203	4300	6503	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1530C>A	1.37:g.247061603G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																					0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446	
ALDH1B1	219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	38395753	38395753	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:38395753G>T	ENST00000377698.3	+	2	161	c.8G>T	c.(7-9)cGc>cTc	p.R3L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	3					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.R3L(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AGCATGCTGCGCTTCCTGGCA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											52.0	50.0	51.0					9																	38395753		2203	4299	6502	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.8G>T	9.37:g.38395753G>T	ENSP00000366927:p.Arg3Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346321	0.41599	.	.	ENSG00000137124	ENST00000377698	T	0.75477	-0.94	5.81	3.98	0.46160	.	0.373597	0.19438	N	0.114242	T	0.53786	0.1818	N	0.08118	0	0.39665	D	0.970671	B	0.02656	0.0	B	0.04013	0.001	T	0.51529	-0.8694	10	0.87932	D	0	.	8.904	0.35512	0.1709:0.0:0.8291:0.0	.	3	P30837	AL1B1_HUMAN	L	3	ENSP00000366927:R3L	ENSP00000366927:R3L	R	+	2	0	ALDH1B1	38385753	0.197000	0.23362	0.229000	0.23960	0.877000	0.50540	0.834000	0.27518	0.806000	0.34183	0.655000	0.94253	CGC		0.622	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			
ALG13	79868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	110964871	110964871	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:110964871T>A	ENST00000394780.3	+	12	1379	c.1367T>A	c.(1366-1368)gTg>gAg	p.V456E	ALG13_ENST00000251943.4_Missense_Mutation_p.V352E	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	456					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.V456E(1)|p.V352E(1)		endometrium(2)|lung(10)|skin(1)	13						CCCTATAAGGTGCTCAAAGCC	0.368																																																	2	Substitution - Missense(2)	kidney(2)											81.0	66.0	70.0					X																	110964871		1567	3582	5149	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1367T>A	X.37:g.110964871T>A	ENSP00000378260:p.Val456Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579760	0.86645	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.73152	0.33;-0.72;0.35	5.92	5.92	0.95590	.	0.000000	0.50627	U	0.000101	D	0.86096	0.5851	M	0.86502	2.82	0.46521	D	0.999081	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88432	0.3036	10	0.72032	D	0.01	-6.7109	15.2722	0.73712	0.0:0.0:0.0:1.0	.	378;456;352	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	E	352;456;352	ENSP00000251943:V352E;ENSP00000378260:V456E;ENSP00000427093:V352E	ENSP00000251943:V352E	V	+	2	0	ALG13	110851527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	1.990000	0.58119	0.481000	0.45027	GTG		0.368	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1		NM_018466	
ANKK1	255239	broad.mit.edu;hgsc.bcm.edu	37	11	113270032	113270032	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:113270032C>T	ENST00000303941.3	+	8	1435	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	447							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L447L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CGCGCCTGCTCCTGGACCACG	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	24.0	22.0					11																	113270032		2124	4238	6362	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1341C>T	11.37:g.113270032C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000303941.3	37	CCDS44734.1																																																																																				0.602	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1		NM_178510	
ANKRD50	57182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	125631599	125631599	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:125631599A>C	ENST00000504087.1	-	2	1105	c.68T>G	c.(67-69)tTt>tGt	p.F23C	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	23								p.F23C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCTACAGTAAAACTGCTTCCC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											107.0	113.0	111.0					4																	125631599		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.68T>G	4.37:g.125631599A>C	ENSP00000425658:p.Phe23Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295658	0.81025	.	.	ENSG00000151458	ENST00000504087	T	0.17854	2.25	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000006	T	0.41834	0.1176	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.27971	-1.0058	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	23	Q9ULJ7	ANR50_HUMAN	C	23	ENSP00000425658:F23C	ENSP00000425658:F23C	F	-	2	0	ANKRD50	125851049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.539000	0.90637	2.225000	0.72522	0.459000	0.35465	TTT		0.423	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337	
APOBEC1	339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7802168	7802168	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:7802168A>G	ENST00000229304.4	-	5	706	c.686T>C	c.(685-687)aTa>aCa	p.I229T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	229					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I229T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGAAGGATGTATCAGCCCTGT	0.403																																					Pancreas(135;929 1826 4531 10527 41012)												1	Substitution - Missense(1)	kidney(1)											172.0	157.0	162.0					12																	7802168		2203	4300	6503	SO:0001583	missense	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.686T>C	12.37:g.7802168A>G	ENSP00000229304:p.Ile229Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269449	0.23221	.	.	ENSG00000111701	ENST00000229304	T	0.66280	-0.2	4.33	3.18	0.36537	.	1.037890	0.07681	N	0.937123	T	0.54838	0.1883	L	0.57536	1.79	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.50110	-0.8866	10	0.72032	D	0.01	-2.67	6.6042	0.22716	0.8903:0.0:0.1097:0.0	.	229	P41238	ABEC1_HUMAN	T	229	ENSP00000229304:I229T	ENSP00000229304:I229T	I	-	2	0	APOBEC1	7693435	0.113000	0.22115	0.001000	0.08648	0.024000	0.10985	2.905000	0.48727	0.810000	0.34279	0.482000	0.46254	ATA		0.403	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1		NM_001644	
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu	37	8	68137214	68137214	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:68137214delA	ENST00000262215.3	-	29	4521	c.4132delT	c.(4132-4134)tggfs	p.W1378fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.W832fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Del_p.W216fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1378					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTCTCACCCACACCCTGTCT	0.373																																																	0													135.0	123.0	127.0					8																	68137214		2203	4300	6503	SO:0001589	frameshift_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4132delT	8.37:g.68137214delA	ENSP00000262215:p.Trp1378fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	CCDS6199.1																																																																																				0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421	
ARID5A	10865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97217964	97217964	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:97217964C>A	ENST00000357485.3	+	7	1777	c.1699C>A	c.(1699-1701)Ctt>Att	p.L567I	ARID5A_ENST00000454558.2_Missense_Mutation_p.L499I	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	567					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L567I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCGCCACAGACTTTGCCCGGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											87.0	82.0	84.0					2																	97217964		2203	4300	6503	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1699C>A	2.37:g.97217964C>A	ENSP00000350078:p.Leu567Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106470	0.56291	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.71461	-0.57	4.65	4.65	0.58169	.	0.000000	0.45126	D	0.000394	T	0.68988	0.3061	L	0.55103	1.725	0.30626	N	0.75801	P;P	0.52692	0.955;0.935	P;B	0.46362	0.514;0.396	T	0.72023	-0.4415	10	0.44086	T	0.13	.	13.2126	0.59834	0.0:1.0:0.0:0.0	.	499;567	C9J1Q0;Q03989	.;ARI5A_HUMAN	I	567;499	ENSP00000350078:L567I	ENSP00000350078:L567I	L	+	1	0	ARID5A	96581691	0.533000	0.26354	0.996000	0.52242	0.976000	0.68499	0.531000	0.23052	2.572000	0.86782	0.555000	0.69702	CTT		0.657	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2		NM_212481	
ARMCX6	54470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100871360	100871360	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:100871360G>T	ENST00000361910.4	-	3	595	c.251C>A	c.(250-252)aCt>aAt	p.T84N	ARMCX6_ENST00000538627.1_Missense_Mutation_p.T84N|ARMCX6_ENST00000539247.1_Missense_Mutation_p.T84N|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	84						integral component of membrane (GO:0016021)		p.T84N(1)		endometrium(3)|kidney(1)|liver(2)|lung(3)	9						CCTGTCCTCAGTGCCACCTGG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											83.0	80.0	81.0					X																	100871360		2203	4300	6503	SO:0001583	missense	54470			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.251C>A	X.37:g.100871360G>T	ENSP00000354708:p.Thr84Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.481	0.648652	0.14516	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.48201	0.82;0.82;0.82	3.56	0.648	0.17801	.	0.512564	0.16518	N	0.210926	T	0.28366	0.0701	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14364	-1.0475	10	0.46703	T	0.11	-1.636	5.3292	0.15922	0.0:0.1781:0.3714:0.4505	.	84	Q7L4S7	ARMX6_HUMAN	N	84	ENSP00000354708:T84N;ENSP00000444537:T84N;ENSP00000440648:T84N	ENSP00000354708:T84N	T	-	2	0	ARMCX6	100758016	0.048000	0.20356	0.001000	0.08648	0.949000	0.60115	0.071000	0.14594	0.020000	0.15106	-0.352000	0.07741	ACT		0.532	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1		NM_019007	
ARMCX5	64860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101857826	101857826	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:101857826A>T	ENST00000604957.1	+	1	3379	c.757A>T	c.(757-759)Acc>Tcc	p.T253S	ARMCX5_ENST00000372742.1_Missense_Mutation_p.T253S|ARMCX5_ENST00000537008.1_Missense_Mutation_p.T253S|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T253S|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T253S|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T253S	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	253								p.T253S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTGAGACCTTGATTGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											104.0	95.0	98.0					X																	101857826		2203	4300	6503	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.757A>T	X.37:g.101857826A>T	ENSP00000474720:p.Thr253Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377250	0.11466	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	3.9	2.69	0.31865	.	0.000000	0.43579	D	0.000553	T	0.15262	0.0368	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.58172	0.834	T	0.12041	-1.0563	10	0.11794	T	0.64	-7.5862	6.4582	0.21942	0.7519:0.2481:0.0:0.0	.	253	Q6P1M9	ARMX5_HUMAN	S	253	ENSP00000246174:T253S;ENSP00000439001:T253S;ENSP00000446385:T253S;ENSP00000445851:T253S;ENSP00000361827:T253S	ENSP00000246174:T253S	T	+	1	0	ARMCX5	101744482	0.279000	0.24239	0.010000	0.14722	0.690000	0.40134	0.959000	0.29240	0.642000	0.30620	0.486000	0.48141	ACC		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1		NM_022838	
ATP10D	57205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47559972	47559972	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:47559972A>T	ENST00000273859.3	+	12	2385	c.2116A>T	c.(2116-2118)Aat>Tat	p.N706Y	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	706					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N706Y(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGGCCTCCTGAATGGCAAGGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											60.0	55.0	57.0					4																	47559972		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2116A>T	4.37:g.47559972A>T	ENSP00000273859:p.Asn706Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185446	0.38609	.	.	ENSG00000145246	ENST00000273859	T	0.39229	1.09	5.04	-5.04	0.02964	HAD-like domain (1);	1.926870	0.01793	N	0.032447	T	0.26159	0.0638	N	0.08118	0	0.09310	N	1	B	0.31459	0.324	B	0.40038	0.317	T	0.25572	-1.0128	10	0.59425	D	0.04	0.3716	3.5607	0.07881	0.3984:0.1105:0.3835:0.1077	.	706	Q9P241	AT10D_HUMAN	Y	706	ENSP00000273859:N706Y	ENSP00000273859:N706Y	N	+	1	0	ATP10D	47254729	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.196000	0.03041	-1.065000	0.03168	0.459000	0.35465	AAT		0.597	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453	
ATP13A1	57130	broad.mit.edu;hgsc.bcm.edu	37	19	19767887	19767887	+	Silent	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:19767887C>A	ENST00000357324.6	-	5	848	c.822G>T	c.(820-822)gtG>gtT	p.V274V	ATP13A1_ENST00000291503.5_Silent_p.V156V|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	274						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.V274V(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTCGAACGCCACCAGCATGG	0.587																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												1	Substitution - coding silent(1)	kidney(1)											51.0	44.0	46.0					19																	19767887		2203	4300	6503	SO:0001819	synonymous_variant	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.822G>T	19.37:g.19767887C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2																																																																																				0.587	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1		NM_020410	
ATP1A4	480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160151511	160151511	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:160151511A>T	ENST00000368081.4	+	19	3245	c.2774A>T	c.(2773-2775)cAa>cTa	p.Q925L	ATP1A4_ENST00000470705.1_Missense_Mutation_p.Q61L|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	925					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.Q925L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCACATGCCAAACGGCCTTT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											184.0	182.0	183.0					1																	160151511		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2774A>T	1.37:g.160151511A>T	ENSP00000357060:p.Gln925Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059237	0.55325	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96554	-4.05;-4.05	4.17	4.17	0.49024	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.321076	0.33382	N	0.004974	D	0.95130	0.8422	M	0.82193	2.58	0.45930	D	0.998761	B	0.26445	0.149	B	0.36766	0.232	D	0.95897	0.8912	10	0.87932	D	0	.	11.4975	0.50417	1.0:0.0:0.0:0.0	.	925	Q13733	AT1A4_HUMAN	L	925;61	ENSP00000357060:Q925L;ENSP00000433094:Q61L	ENSP00000357060:Q925L	Q	+	2	0	ATP1A4	158418135	1.000000	0.71417	0.901000	0.35422	0.642000	0.38348	9.048000	0.93830	1.875000	0.54330	0.454000	0.30748	CAA		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699	
AXIN1	8312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	396564	396564	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:396564G>A	ENST00000262320.3	-	2	833	c.462C>T	c.(460-462)ggC>ggT	p.G154G	AXIN1_ENST00000354866.3_Silent_p.G154G|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.G154G(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGACACGATGCCATTGTTAT	0.552											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - coding silent(1)	kidney(1)											111.0	107.0	109.0					16																	396564		2203	4300	6503	SO:0001819	synonymous_variant	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.462C>T	16.37:g.396564G>A		Somatic	588	WXS	Illumina HiSeq	Phase_I	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																				0.552	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			
CEP131	22994	broad.mit.edu	37	17	79169644	79169644	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:79169644C>A	ENST00000269392.4	-	16	2263	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H	AZI1_ENST00000450824.2_Missense_Mutation_p.Q669H|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Missense_Mutation_p.Q672H|AZI1_ENST00000374782.3_Missense_Mutation_p.Q669H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		672					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.Q669H(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGCTCGTGCTGCGCCTGTG	0.647																																																	2	Substitution - Missense(2)	kidney(2)											122.0	100.0	107.0					17																	79169644		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.2016G>T	17.37:g.79169644C>A	ENSP00000269392:p.Gln672His	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	C	14.03	2.412816	0.42817	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.31;2.29;2.31	4.11	3.14	0.36123	.	0.133178	0.52532	D	0.000068	T	0.35307	0.0927	M	0.63843	1.955	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.994;0.999;0.994	D;P;D;P	0.74348	0.98;0.892;0.983;0.892	T	0.05451	-1.0884	10	0.51188	T	0.08	-23.0159	11.4653	0.50235	0.0:0.9103:0.0:0.0897	.	669;672;669;669	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	669;669;672	ENSP00000393583:Q669H;ENSP00000363914:Q669H;ENSP00000269392:Q672H	ENSP00000269392:Q672H	Q	-	3	2	AZI1	76784239	1.000000	0.71417	0.995000	0.50966	0.054000	0.15201	4.246000	0.58740	0.944000	0.37579	0.467000	0.42956	CAG		0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			
DDX39B	7919	broad.mit.edu;hgsc.bcm.edu	37	6	31507024	31507024	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:31507024A>G	ENST00000396172.1	-	3	869	c.239T>C	c.(238-240)aTt>aCt	p.I80T	SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.I80T|DDX39B_ENST00000453105.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.I80T|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000449074.2_Missense_Mutation_p.I80T|SNORD117_ENST00000364915.1_RNA|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000458640.1_Missense_Mutation_p.I80T	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	80	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.I80T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CATTCCCAGAATGGCCTGAGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											119.0	124.0	123.0					6																	31507024		1511	2709	4220	SO:0001583	missense	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.239T>C	6.37:g.31507024A>G	ENSP00000379475:p.Ile80Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895715	0.72639	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43646	1.37	0.80722	D	1	D;P;D	0.64830	0.994;0.825;0.991	D;P;D	0.68621	0.959;0.841;0.948	T	0.01401	-1.1364	10	0.66056	D	0.02	-11.5939	13.6077	0.62056	1.0:0.0:0.0:0.0	.	100;80;80	Q59G92;Q13838;Q5STU3	.;DX39B_HUMAN;.	T	80;80;80;80;80;80;80;80;80;80;103;80;95;80;80	ENSP00000365347:I80T;ENSP00000416269:I80T;ENSP00000379475:I80T;ENSP00000412582:I80T;ENSP00000399371:I80T;ENSP00000392672:I80T;ENSP00000410313:I80T;ENSP00000416350:I80T;ENSP00000391946:I80T;ENSP00000405707:I80T;ENSP00000409426:I103T;ENSP00000393984:I80T;ENSP00000399841:I95T;ENSP00000405245:I80T	ENSP00000365347:I80T	I	-	2	0	DDX39B	31615003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.770000	0.91746	2.095000	0.63458	0.460000	0.39030	ATT		0.517	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640	
BCKDK	10295	hgsc.bcm.edu;ucsc.edu	37	16	31123280	31123280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:31123280delC	ENST00000394951.1	+	12	1649	c.1026delC	c.(1024-1026)gacfs	p.D342fs	BCKDK_ENST00000219794.6_Frame_Shift_Del_p.D342fs|BCKDK_ENST00000394950.3_Frame_Shift_Del_p.D342fs|BCKDK_ENST00000287507.3_Frame_Shift_Del_p.D312fs|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	342	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GCACACAGGACCCCCGGATCA	0.602																																																	0													76.0	70.0	72.0					16																	31123280		2197	4300	6497	SO:0001589	frameshift_variant	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.1026delC	16.37:g.31123280delC	ENSP00000378405:p.Asp342fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MY43|Q6FGL4|Q96G95|Q96IN5	Frame_Shift_Del	DEL	ENST00000394951.1	37	CCDS10705.1																																																																																				0.602	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1		NM_005881	
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	99640573	99640573	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:99640573C>T	ENST00000357195.3	-	4	2609	c.2600G>A	c.(2599-2601)aGc>aAc	p.S867N	BCL11B_ENST00000345514.2_Missense_Mutation_p.S796N|BCL11B_ENST00000443726.2_Missense_Mutation_p.S673N	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	867					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S867N(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTCCAGGGTGCTGTAGACGCT	0.612			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - Missense(1)	kidney(1)											96.0	78.0	84.0					14																	99640573		2203	4300	6503	SO:0001583	missense	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2600G>A	14.37:g.99640573C>T	ENSP00000349723:p.Ser867Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838497	0.71373	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.58506	0.33;0.33;0.33	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.142647	0.43110	D	0.000615	T	0.69958	0.3169	L	0.41710	1.295	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.73279	-0.4033	10	0.72032	D	0.01	-17.0203	18.2698	0.90064	0.0:1.0:0.0:0.0	.	796;867	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	N	867;796;673	ENSP00000349723:S867N;ENSP00000280435:S796N;ENSP00000387419:S673N	ENSP00000280435:S796N	S	-	2	0	BCL11B	98710326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.331000	0.79229	0.462000	0.41574	AGC		0.612	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576	
KIAA1549L	25758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33565649	33565649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:33565649delC	ENST00000321505.4	+	1	1829	c.1649delC	c.(1648-1650)accfs	p.T550fs	KIAA1549L_ENST00000265654.5_Frame_Shift_Del_p.T550fs|KIAA1549L_ENST00000389726.3_Frame_Shift_Del_p.T550fs			Q6ZVL6	K154L_HUMAN	KIAA1549-like	550						integral component of membrane (GO:0016021)											CTTTTGCTAACCTCACCAGGA	0.463																																																	0													141.0	142.0	142.0					11																	33565649		2022	4183	6205	SO:0001589	frameshift_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1649delC	11.37:g.33565649delC	ENSP00000315295:p.Thr550fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYU0	Frame_Shift_Del	DEL	ENST00000321505.4	37	CCDS44565.2																																																																																				0.463	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1		NM_012194	
C15orf40	123207	hgsc.bcm.edu	37	15	83677271	83677271	+	Intron	DEL	A	A	-	rs373204607		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:83677271delA	ENST00000513601.2	-	3	374				RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000304177.5_Intron|C15orf40_ENST00000451195.3_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						attttgtctcaaaaaaaaaaa	0.483																																																	0													31.0	31.0	31.0					15																	83677271		2203	4300	6503	SO:0001627	intron_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.366+28T>-	15.37:g.83677271delA		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Frame_Shift_Del	DEL	ENST00000513601.2	37	CCDS32312.2																																																																																				0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2		NM_144597	
SHCBP1L	81626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182908433	182908433	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:182908433A>C	ENST00000367547.3	-	5	1190	c.954T>G	c.(952-954)atT>atG	p.I318M	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.I199M	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	390								p.I318M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTGATACTCAATGAGCTCGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					1																	182908433		2203	4300	6503	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.954T>G	1.37:g.182908433A>C	ENSP00000356518:p.Ile318Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069919	0.55539	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.46063	0.88;0.89	4.97	-3.67	0.04476	.	0.000000	0.56097	D	0.000030	T	0.45155	0.1328	L	0.51422	1.61	0.31402	N	0.676583	D;P;D	0.58620	0.971;0.731;0.983	P;P;P	0.56700	0.641;0.549;0.804	T	0.54596	-0.8270	10	0.54805	T	0.06	-8.7361	11.6033	0.51017	0.417:0.0:0.583:0.0	.	390;199;318	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	M	318;387;199	ENSP00000356518:I318M;ENSP00000397308:I199M	ENSP00000287709:I387M	I	-	3	3	SHCBP1L	181175056	0.494000	0.26043	0.982000	0.44146	0.804000	0.45430	-0.591000	0.05753	-0.695000	0.05105	0.460000	0.39030	ATT		0.378	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1		NM_030933	
TMEM245	23731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111855820	111855820	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:111855820T>G	ENST00000374586.3	-	4	882	c.851A>C	c.(850-852)aAc>aCc	p.N284T		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	284						integral component of membrane (GO:0016021)		p.N284T(1)									GATGGCCAAGTTTGCCAGAGT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											135.0	134.0	135.0					9																	111855820		1950	4151	6101	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.851A>C	9.37:g.111855820T>G	ENSP00000363714:p.Asn284Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	T	6.466	0.454193	0.12283	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.21932	1.98	5.67	3.66	0.41972	.	0.110845	0.40222	N	0.001149	T	0.05456	0.0144	N	0.00677	-1.265	0.33202	D	0.552235	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.08179	T	0.78	-7.0323	10.3717	0.44058	0.0:0.0:0.4474:0.5526	.	284;284	Q9H330-2;Q9H330	.;CI005_HUMAN	T	284	ENSP00000363714:N284T	ENSP00000223608:N284T	N	-	2	0	C9orf5	110895641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.861000	0.39438	0.582000	0.29556	0.455000	0.32223	AAC		0.453	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012	
CAMTA2	23125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4872277	4872277	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:4872277C>T	ENST00000348066.3	-	22	3594		c.e22-1		RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000381311.5_Splice_Site|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000358183.4_Splice_Site|CAMTA2_ENST00000572543.1_Splice_Site|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000361571.5_Splice_Site|CAMTA2_ENST00000414043.3_Intron	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAAGGAGCCTCTGGTGAAAGA	0.577																																																	1	Unknown(1)	kidney(1)											60.0	59.0	59.0					17																	4872277		2203	4300	6503	SO:0001630	splice_region_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3471-1G>A	17.37:g.4872277C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Splice_Site	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232241	0.58777	.	.	ENSG00000108509	ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4661	0.67485	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMTA2	4813001	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	5.579000	0.67457	2.268000	0.75426	0.563000	0.77884	.		0.577	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099	Intron
CANX	821	broad.mit.edu;hgsc.bcm.edu	37	5	179149818	179149818	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:179149818C>A	ENST00000247461.4	+	11	1396	c.1196C>A	c.(1195-1197)cCc>cAc	p.P399H	CANX_ENST00000415618.2_Missense_Mutation_p.P434H|CANX_ENST00000452673.2_Missense_Mutation_p.P399H|CANX_ENST00000512607.2_Missense_Mutation_p.P291H|CANX_ENST00000504734.1_Missense_Mutation_p.P399H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	399	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.P399H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATCTGGAAACCCAGGAAAATA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											64.0	67.0	66.0					5																	179149818		2203	4300	6503	SO:0001583	missense	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1196C>A	5.37:g.179149818C>A	ENSP00000247461:p.Pro399His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639796	0.87760	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.39	5.39	0.77823	Calreticulin/calnexin, P (2);	0.099528	0.64402	D	0.000001	T	0.69133	0.3077	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65874	0.939;0.869	T	0.67522	-0.5649	10	0.45353	T	0.12	-2.989	19.5041	0.95108	0.0:1.0:0.0:0.0	.	434;399	B4DGP8;P27824	.;CALX_HUMAN	H	399;434;399;399;291	ENSP00000424063:P399H;ENSP00000394817:P434H;ENSP00000391646:P399H;ENSP00000247461:P399H;ENSP00000423588:P291H	ENSP00000247461:P399H	P	+	2	0	CANX	179082424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.676000	0.91093	0.650000	0.86243	CCC		0.363	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2		NM_001024649	
CASQ2	845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116243998	116243998	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:116243998G>C	ENST00000261448.5	-	11	1303	c.1064C>G	c.(1063-1065)gCt>gGt	p.A355G	CASQ2_ENST00000456138.2_Missense_Mutation_p.A284G	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	355					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.A355G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGCTCCTCAGCAGTTGGAAG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											125.0	103.0	111.0					1																	116243998		2203	4300	6503	SO:0001583	missense	845			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1064C>G	1.37:g.116243998G>C	ENSP00000261448:p.Ala355Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159330	0.78226	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.76186	-1.0;-1.0	6.16	5.25	0.73442	Thioredoxin-like fold (2);	0.098314	0.64402	D	0.000001	T	0.79009	0.4374	M	0.83012	2.62	0.58432	D	0.999999	P;P	0.46784	0.879;0.884	P;P	0.53649	0.724;0.731	T	0.80228	-0.1469	10	0.39692	T	0.17	-15.2901	15.3474	0.74350	0.0672:0.0:0.9328:0.0	.	284;355	B4DIB0;O14958	.;CASQ2_HUMAN	G	355;284;309	ENSP00000261448:A355G;ENSP00000403858:A284G	ENSP00000261448:A355G	A	-	2	0	CASQ2	116045521	1.000000	0.71417	0.273000	0.24645	0.516000	0.34256	5.358000	0.66064	1.621000	0.50320	0.650000	0.86243	GCT		0.448	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1		NM_001232	
CCDC116	164592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21989453	21989453	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr22:21989453C>T	ENST00000292779.3	+	4	1262	c.1101C>T	c.(1099-1101)cgC>cgT	p.R367R	CCDC116_ENST00000607942.1_Silent_p.R367R	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	367								p.R367R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTTCCCCCCGCCCCACAGTCT	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	32.0	32.0					22																	21989453		2203	4300	6503	SO:0001819	synonymous_variant	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1101C>T	22.37:g.21989453C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																				0.612	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1		NM_152612	
CCT8	10694	broad.mit.edu;hgsc.bcm.edu	37	21	30442596	30442596	+	Missense_Mutation	SNP	T	T	A	rs527759092		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:30442596T>A	ENST00000286788.4	-	2	329	c.123A>T	c.(121-123)caA>caT	p.Q41H	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.Q22H|CCT8_ENST00000540844.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	41					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.Q41H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TACGAGTGGTTTGGGCAAGCT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											82.0	77.0	78.0					21																	30442596		2202	4300	6502	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.123A>T	21.37:g.30442596T>A	ENSP00000286788:p.Gln41His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.77|13.77	2.336206|2.336206	0.41398|0.41398	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000431234|ENST00000389159;ENST00000286788;ENST00000542732	.|T;T	.|0.79454	.|-1.27;-1.27	4.74|4.74	-6.05|-6.05	0.02172|0.02172	.|.	.|0.051406	.|0.85682	.|D	.|0.000000	T|T	0.70316|0.70316	0.3210|0.3210	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.21905	.|0.062;0.011;0.009;0.013	.|B;B;B;B	.|0.23018	.|0.043;0.029;0.017;0.016	T|T	0.48043|0.48043	-0.9069|-0.9069	5|10	.|0.66056	.|D	.|0.02	-11.7103|-11.7103	15.9644|15.9644	0.79956|0.79956	0.0:0.2471:0.0:0.7529|0.0:0.2471:0.0:0.7529	.|.	.|22;41;41;41	.|B4DEM7;Q53HU0;G5E9B2;P50990	.|.;.;.;TCPQ_HUMAN	I|H	33|41;41;22	.|ENSP00000286788:Q41H;ENSP00000444984:Q22H	.|ENSP00000286788:Q41H	K|Q	-|-	2|3	0|2	CCT8|CCT8	29364467|29364467	0.050000|0.050000	0.20438|0.20438	0.537000|0.537000	0.28052|0.28052	0.990000|0.990000	0.78478|0.78478	-0.791000|-0.791000	0.04599|0.04599	-1.466000|-1.466000	0.01897|0.01897	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.348	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			
CDH6	1004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31299715	31299715	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:31299715A>T	ENST00000265071.2	+	5	1053	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CDH6_ENST00000514738.1_Missense_Mutation_p.D208V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	263	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D263V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATGTCAACGACAACCCTCCC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											120.0	109.0	113.0					5																	31299715		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.788A>T	5.37:g.31299715A>T	ENSP00000265071:p.Asp263Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687672	0.88639	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.65549	-0.16;-0.16	5.93	5.93	0.95920	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	H	0.98407	4.225	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.77004	0.962;0.989	D	0.92328	0.5871	10	0.87932	D	0	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	263;263	P55285;P55285-2	CADH6_HUMAN;.	V	208;263	ENSP00000424843:D208V;ENSP00000265071:D263V	ENSP00000265071:D263V	D	+	2	0	CDH6	31335472	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.258000	0.74832	0.533000	0.62120	GAC		0.433	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932	
CDKL5	6792	broad.mit.edu;ucsc.edu	37	X	18622812	18622812	+	Missense_Mutation	SNP	G	G	A	rs372629988		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:18622812G>A	ENST00000379989.3	+	13	2053	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	CDKL5_ENST00000379996.3_Missense_Mutation_p.E590K|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	590					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E590K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGCACCTCACGAATCTTTTTC	0.498																																																	1	Substitution - Missense(1)	kidney(1)						G	LYS/GLU,LYS/GLU	0,3835		0,0,1632,571	157.0	153.0	154.0		1768,1768	6.0	0.9	X		154	1,6727		0,1,2427,1872	no	missense,missense	CDKL5	NM_001037343.1,NM_003159.2	56,56	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	590/1031,590/1031	18622812	1,10562	2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1768G>A	X.37:g.18622812G>A	ENSP00000369325:p.Glu590Lys	Somatic		WXS	Illumina GAIIx	Phase_I	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063033	0.76187	0.0	1.49E-4	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75477	-0.94;-0.94	6.03	6.03	0.97812	.	0.088660	0.85682	D	0.000000	T	0.79799	0.4508	L	0.36672	1.1	0.51233	D	0.999917	D	0.76494	0.999	P	0.58721	0.844	T	0.81311	-0.0990	10	0.87932	D	0	-22.2267	19.4775	0.94995	0.0:0.0:1.0:0.0	.	590	O76039	CDKL5_HUMAN	K	590	ENSP00000369332:E590K;ENSP00000369325:E590K	ENSP00000369325:E590K	E	+	1	0	CDKL5	18532733	1.000000	0.71417	0.944000	0.38274	0.479000	0.33129	9.230000	0.95299	2.554000	0.86153	0.600000	0.82982	GAA		0.498	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		NM_003159	
CDX1	1044	broad.mit.edu;hgsc.bcm.edu	37	5	149563073	149563073	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:149563073C>G	ENST00000231656.8	+	3	710	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	210					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R210G(1)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAAAGGAGCGCAAAGTGAA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											57.0	63.0	61.0					5																	149563073		2201	4299	6500	SO:0001583	missense	1044			U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.628C>G	5.37:g.149563073C>G	ENSP00000231656:p.Arg210Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226665	0.79576	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.97642	-4.47	5.73	4.81	0.61882	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.97315	3.98	0.80722	D	1	P	0.42785	0.79	P	0.56343	0.796	D	0.99023	1.0818	10	0.87932	D	0	-15.9932	12.047	0.53485	0.334:0.666:0.0:0.0	.	210	P47902	CDX1_HUMAN	G	210;99	ENSP00000231656:R210G	ENSP00000231656:R210G	R	+	1	0	CDX1	149543266	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.614000	0.46359	2.710000	0.92621	0.591000	0.81541	CGC		0.612	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7		NM_001804	
CEBPG	1054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33870405	33870405	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:33870405C>T	ENST00000284000.4	+	2	922	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CEBPG_ENST00000585933.2_Missense_Mutation_p.A87V	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	87	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A87V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AAGCAGAAAGCACAAGACACA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											93.0	82.0	86.0					19																	33870405		2203	4300	6503	SO:0001583	missense	1054			U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.260C>T	19.37:g.33870405C>T	ENSP00000284000:p.Ala87Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R946|Q5U052	Missense_Mutation	SNP	ENST00000284000.4	37	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935752	0.73442	.	.	ENSG00000153879	ENST00000284000	T	0.43688	0.94	5.87	5.87	0.94306	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53408	-0.8443	10	0.28530	T	0.3	-12.7959	19.5705	0.95413	0.0:1.0:0.0:0.0	.	87	P53567	CEBPG_HUMAN	V	87	ENSP00000284000:A87V	ENSP00000284000:A87V	A	+	2	0	CEBPG	38562245	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	7.711000	0.84669	2.941000	0.99782	0.655000	0.94253	GCA		0.448	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2		NM_001806	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238280464	238280464	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:238280464C>A	ENST00000295550.4	-	9	4648	c.4196G>T	c.(4195-4197)aGc>aTc	p.S1399I	COL6A3_ENST00000409809.1_Missense_Mutation_p.S1193I|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1193I|COL6A3_ENST00000472056.1_Missense_Mutation_p.S792I|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1198I|COL6A3_ENST00000392003.2_Missense_Mutation_p.S992I|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1193I|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1199I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1399	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1399I(1)|p.S1193I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTCCAGGCTGGGCAGCTC	0.597																																																	2	Substitution - Missense(2)	kidney(2)											77.0	76.0	77.0					2																	238280464		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4196G>T	2.37:g.238280464C>A	ENSP00000295550:p.Ser1399Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594257	0.66219	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.64	4.75	0.60458	von Willebrand factor, type A (3);	0.175198	0.40469	N	0.001092	D	0.89674	0.6783	M	0.72576	2.205	0.31304	N	0.687901	D;P;P;D;P	0.71674	0.998;0.828;0.915;0.995;0.655	D;P;P;D;B	0.72625	0.978;0.756;0.756;0.948;0.327	D	0.89221	0.3571	10	0.39692	T	0.17	.	15.235	0.73422	0.0:0.6039:0.3961:0.0	.	792;992;1193;1193;1399	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	I	1399;1198;1193;792;1193;1199;1193;992	ENSP00000295550:S1399I;ENSP00000315609:S1198I;ENSP00000315873:S1193I;ENSP00000418285:S792I;ENSP00000386844:S1193I;ENSP00000295546:S1199I;ENSP00000375861:S1193I;ENSP00000375860:S992I	ENSP00000295550:S1399I	S	-	2	0	COL6A3	237945203	0.116000	0.22171	1.000000	0.80357	0.861000	0.49209	1.505000	0.35736	1.345000	0.45676	0.650000	0.86243	AGC		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
COQ5	84274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120954469	120954469	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:120954469C>T	ENST00000288532.6	-	3	515	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	159					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.E159K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGAATCTTCTTCATTCTGG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											218.0	219.0	218.0					12																	120954469		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.475G>A	12.37:g.120954469C>T	ENSP00000288532:p.Glu159Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159408	0.38119	.	.	ENSG00000110871	ENST00000288532;ENST00000552443;ENST00000547943;ENST00000551769	T;T;T;T	0.63744	-0.06;-0.04;1.0;-0.06	5.41	4.47	0.54385	.	0.430076	0.27478	N	0.019199	T	0.47948	0.1473	L	0.34521	1.04	0.19775	N	0.999959	B	0.30146	0.27	B	0.28011	0.085	T	0.31420	-0.9944	10	0.21540	T	0.41	.	12.1542	0.54066	0.0:0.7885:0.135:0.0765	.	159	Q5HYK3	COQ5_HUMAN	K	159;78;109;78	ENSP00000288532:E159K;ENSP00000449863:E78K;ENSP00000449874:E109K;ENSP00000450001:E78K	ENSP00000288532:E159K	E	-	1	0	COQ5	119438852	0.027000	0.19231	0.997000	0.53966	0.970000	0.65996	1.190000	0.32126	2.536000	0.85505	0.557000	0.71058	GAA		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2		NM_032314	
CRYGB	1419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209007637	209007637	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:209007637G>T	ENST00000260988.4	-	3	300	c.253C>A	c.(253-255)Cac>Aac	p.H85N		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	85	Connecting peptide.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.H85N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GCGCCAGAGTGCTGGAGTGGC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											98.0	102.0	100.0					2																	209007637		2203	4300	6503	SO:0001630	splice_region_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.253-1C>A	2.37:g.209007637G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.825963	0.16749	.	.	ENSG00000182187	ENST00000260988	T	0.74947	-0.89	4.64	4.64	0.57946	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.553797	0.13883	U	0.356205	T	0.71567	0.3355	M	0.71206	2.165	0.45541	D	0.998495	B	0.26483	0.15	B	0.24848	0.056	T	0.71334	-0.4624	10	0.54805	T	0.06	.	8.8639	0.35274	0.1005:0.0:0.8995:0.0	.	85	P07316	CRGB_HUMAN	N	85	ENSP00000260988:H85N	ENSP00000260988:H85N	H	-	1	0	CRYGB	208715882	1.000000	0.71417	0.992000	0.48379	0.135000	0.20990	0.920000	0.28705	2.567000	0.86603	0.561000	0.74099	CAC		0.483	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2		NM_005210	Missense_Mutation
CYP19A1	1588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51514629	51514629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:51514629G>A	ENST00000396402.1	-	5	698	c.545C>T	c.(544-546)tCg>tTg	p.S182L	CYP19A1_ENST00000405913.3_Missense_Mutation_p.S182L|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S182L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S182L|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S182L|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S182L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	182					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S182L(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CACATAGCCCGATTCATTGGT	0.522																																					Melanoma(142;1016 1807 39614 48966 51721)												1	Substitution - Missense(1)	kidney(1)											167.0	124.0	139.0					15																	51514629		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.545C>T	15.37:g.51514629G>A	ENSP00000379683:p.Ser182Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182565	0.38511	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.85	-1.3	0.09259	.	1.053100	0.07405	N	0.891338	T	0.36880	0.0983	N	0.03050	-0.425	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.11329	0.006;0.005	T	0.21415	-1.0246	10	0.14656	T	0.56	0.1565	7.741	0.28841	0.441:0.1109:0.4481:0.0	.	182;182	Q8IYJ7;P11511	.;CP19A_HUMAN	L	182	ENSP00000379683:S182L;ENSP00000260433:S182L;ENSP00000379685:S182L;ENSP00000390614:S182L;ENSP00000383930:S182L;ENSP00000391139:S182L	ENSP00000260433:S182L	S	-	2	0	CYP19A1	49301921	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.075000	0.11431	-0.031000	0.13781	0.655000	0.94253	TCG		0.522	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			
CSPG4	1464	hgsc.bcm.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A	rs200866227		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667																																																	0													14.0	13.0	13.0					15																	75982360		2186	4278	6464	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1046C>T	15.37:g.75982360G>A	ENSP00000312506:p.Ala349Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	9.028	0.986482	0.18889	.	.	ENSG00000173546	ENST00000308508	T	0.78595	-1.19	5.26	-1.25	0.09405	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.407880	0.04170	N	0.324555	T	0.58921	0.2156	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41538	-0.9503	10	0.12766	T	0.61	.	7.2785	0.26297	0.4345:0.0:0.4544:0.1111	.	349	Q6UVK1	CSPG4_HUMAN	V	349	ENSP00000312506:A349V	ENSP00000312506:A349V	A	-	2	0	CSPG4	73769415	0.000000	0.05858	0.032000	0.17829	0.867000	0.49689	-0.051000	0.11885	-0.106000	0.12110	0.555000	0.69702	GCC		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897	
CYP2C19	1557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96580386	96580386	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:96580386A>C	ENST00000371321.3	+	6	1035	c.953A>C	c.(952-954)gAg>gCg	p.E318A	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	318					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.E318A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAGCACCCAGAGGTCACAGGT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											163.0	149.0	154.0					10																	96580386		2203	4300	6503	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.953A>C	10.37:g.96580386A>C	ENSP00000360372:p.Glu318Ala	Somatic		WXS	Illumina HiSeq	Phase_I	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539452	0.45176	.	.	ENSG00000165841	ENST00000371321	T	0.16073	2.37	3.95	3.95	0.45737	.	0.591461	0.15846	U	0.241750	T	0.30510	0.0767	M	0.79926	2.475	0.09310	N	0.999999	P	0.38195	0.622	P	0.45913	0.497	T	0.16188	-1.0411	10	0.87932	D	0	.	9.1683	0.37065	1.0:0.0:0.0:0.0	.	318	P33261	CP2CJ_HUMAN	A	318	ENSP00000360372:E318A	ENSP00000360372:E318A	E	+	2	0	CYP2C19	96570376	0.790000	0.28787	0.692000	0.30179	0.660000	0.38997	3.367000	0.52350	1.639000	0.50556	0.329000	0.21502	GAG		0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1		NM_000769	
DDX12P	440081	broad.mit.edu	37	12	9573258	9573258	+	IGR	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:9573258C>A								RP13-735L24.1 (23045 upstream) : SNORA75 (24395 downstream)														p.M685I(1)									CCACCTCGTCCATCTaaggaa	0.607																																																	1	Substitution - Missense(1)	kidney(1)											97.0	90.0	92.0					12																	9573258		692	1591	2283	SO:0001628	intergenic_variant	0																															12.37:g.9573258C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.607									
EXO5	64789	hgsc.bcm.edu;ucsc.edu	37	1	40980774	40980783	+	Frame_Shift_Del	DEL	TACAGCCAAG	TACAGCCAAG	-	rs370886885		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	TACAGCCAAG	TACAGCCAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:40980774_40980783delTACAGCCAAG	ENST00000372703.1	+	2	1632_1641	c.558_567delTACAGCCAAG	c.(556-567)tatacagccaagfs	p.YTAK186fs	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.YTAK186fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.YTAK186fs|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	186					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AGCTGCACTATACAGCCAAGGGGGAACTGG	0.51																																																	0																																										SO:0001589	frameshift_variant	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.558_567delTACAGCCAAG	1.37:g.40980774_40980783delTACAGCCAAG	ENSP00000361788:p.Tyr186fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	CCDS453.1																																																																																				0.510	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1		NM_022774	
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62973695	62973695	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:62973695C>A	ENST00000340370.5	-	34	4338	c.4321G>T	c.(4321-4323)Gat>Tat	p.D1441Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1463Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1472					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.D1441Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGGTTTCCATCAATCAGTGCT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											128.0	122.0	124.0					1																	62973695		2203	4299	6502	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4321G>T	1.37:g.62973695C>A	ENSP00000340742:p.Asp1441Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.873183|4.873183	0.91664|0.91664	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.01838|.	4.61;4.61|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70710|.	0.3255|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.62365|.	0.972;0.991;0.984;0.991;0.98;0.96|.	P;P;D;D;P;P|.	0.64595|.	0.88;0.891;0.927;0.927;0.891;0.891|.	T|.	0.66720|.	-0.5852|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4412|19.4412	0.94821|0.94821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1472;1463;1441;1432;1432;1463|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	Y|L	1472;1463;1441;202|634	ENSP00000251157:D1463Y;ENSP00000340742:D1441Y|.	ENSP00000251157:D1463Y|.	D|X	-|-	1|2	0|2	DOCK7|DOCK7	62746283|62746283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.583000|2.583000	0.87209|0.87209	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.294	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407	
DOPEY2	9980	hgsc.bcm.edu;ucsc.edu	37	21	37617853	37617854	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:37617853_37617854delTC	ENST00000399151.3	+	19	3660_3661	c.3575_3576delTC	c.(3574-3576)ttcfs	p.F1192fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1192					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGAGTCGTTCTCCAGCGACG	0.629																																																	0																																										SO:0001589	frameshift_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3575_3576delTC	21.37:g.37617855_37617856delTC	ENSP00000382104:p.Phe1192fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	ENST00000399151.3	37	CCDS13643.1																																																																																				0.629	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128	
DPPA2	151871	hgsc.bcm.edu;ucsc.edu	37	3	109031497	109031503	+	Frame_Shift_Del	DEL	AAATCAC	AAATCAC	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	AAATCAC	AAATCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:109031497_109031503delAAATCAC	ENST00000478945.1	-	3	316_322	c.70_76delGTGATTT	c.(70-78)gtgattttgfs	p.VIL24fs		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	24					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCAGTGTCAAAATCACACTTTCCTCA	0.396																																																	0																																										SO:0001589	frameshift_variant	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.70_76delGTGATTT	3.37:g.109031497_109031503delAAATCAC	ENSP00000417710:p.Val24fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WVF0	Frame_Shift_Del	DEL	ENST00000478945.1	37	CCDS2956.1																																																																																				0.396	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1		NM_138815	
DUS2	54920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68071947	68071947	+	Silent	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:68071947T>A	ENST00000565263.1	+	3	515	c.21T>A	c.(19-21)tcT>tcA	p.S7S	DUS2_ENST00000432752.1_Silent_p.S7S|DUS2_ENST00000358896.6_Silent_p.S7S	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	7					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.S7S(1)									ATAGCCTCTCTCTGTGTTACC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											136.0	126.0	130.0					16																	68071947		2198	4300	6498	SO:0001819	synonymous_variant	54920				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.21T>A	16.37:g.68071947T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K3G3|Q4H4D9	Silent	SNP	ENST00000565263.1	37	CCDS10859.1																																																																																				0.423	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2		NM_017803	
DYNC2H1	79659	broad.mit.edu	37	11	103093809	103093809	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:103093809T>G	ENST00000375735.2	+	59	9491	c.9347T>G	c.(9346-9348)tTa>tGa	p.L3116*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.L3116*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3116	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L549*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGGCAGGATTAGAATCGTAA	0.328																																																	1	Substitution - Nonsense(1)	kidney(1)											50.0	45.0	47.0					11																	103093809		1822	4087	5909	SO:0001587	stop_gained	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9347T>G	11.37:g.103093809T>G	ENSP00000364887:p.Leu3116*	Somatic		WXS	Illumina GAIIx	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	50	16.847462	0.99873	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1501	0.81611	0.0:0.0:0.0:1.0	.	.	.	.	X	3116	.	ENSP00000364887:L3116X	L	+	2	0	DYNC2H1	102599019	1.000000	0.71417	0.961000	0.40146	0.570000	0.35934	7.422000	0.80217	2.219000	0.72066	0.533000	0.62120	TTA		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
EFR3A	23167	broad.mit.edu;hgsc.bcm.edu	37	8	132956999	132956999	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:132956999T>G	ENST00000254624.5	+	3	320	c.95T>G	c.(94-96)cTt>cGt	p.L32R	EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Missense_Mutation_p.L32R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	32						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.L32R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TAGGATGGCCTTGTGAAAACT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	67.0					8																	132956999		2202	4299	6501	SO:0001583	missense	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.95T>G	8.37:g.132956999T>G	ENSP00000254624:p.Leu32Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634044	0.67130	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	T;T	0.19938	2.11;2.11	5.75	4.59	0.56863	.	.	.	.	.	T	0.45975	0.1369	M	0.79011	2.435	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.45833	-0.9234	9	0.87932	D	0	-16.4579	11.0901	0.48110	0.0:0.0721:0.0:0.9279	.	32	Q14156	EFR3A_HUMAN	R	32	ENSP00000254624:L32R;ENSP00000334769:L32R	ENSP00000254624:L32R	L	+	2	0	EFR3A	133026181	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	8.040000	0.89188	1.007000	0.39238	-0.290000	0.09829	CTT		0.343	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1		NM_015137	
EIF2AK2	5610	broad.mit.edu;ucsc.edu	37	2	37366825	37366825	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:37366825T>G	ENST00000233057.4	-	6	787	c.465A>C	c.(463-465)caA>caC	p.Q155H	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.Q155H|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.Q155H	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	155	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.Q155H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TAGCGGCCAATTGTTTTGCTT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											184.0	183.0	183.0					2																	37366825		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.465A>C	2.37:g.37366825T>G	ENSP00000233057:p.Gln155His	Somatic		WXS	Illumina GAIIx	Phase_I	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365974	0.24684	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.79033	-1.23;-1.23;-1.23	5.38	-10.8	0.00216	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.434976	0.19684	N	0.108458	T	0.72510	0.3469	M	0.68593	2.085	0.23628	N	0.997258	P;P;P;P	0.47191	0.891;0.891;0.891;0.817	B;P;P;B	0.47075	0.356;0.536;0.536;0.343	T	0.80139	-0.1507	10	0.59425	D	0.04	-13.9269	12.4479	0.55662	0.195:0.611:0.0:0.194	.	155;155;155;155	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	H	155	ENSP00000233057:Q155H;ENSP00000378559:Q155H;ENSP00000385014:Q155H	ENSP00000233057:Q155H	Q	-	3	2	EIF2AK2	37220329	0.000000	0.05858	0.003000	0.11579	0.109000	0.19521	-3.093000	0.00608	-3.656000	0.00125	-1.279000	0.01387	CAA		0.328	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		NM_002759	
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184049812	184049812	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:184049812A>G	ENST00000346169.2	+	32	4827	c.4556A>G	c.(4555-4557)cAg>cGg	p.Q1519R	EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000342981.4_Missense_Mutation_p.Q1520R|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q1324R|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q1519R|EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q1479R|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q1432R|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q1355R|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q1433R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q1480R|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q1356R|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q1323R	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1519	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.Q1519R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGACGAGCAGAAGGAGCTA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											64.0	61.0	62.0					3																	184049812		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4556A>G	3.37:g.184049812A>G	ENSP00000316879:p.Gln1519Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268242	0.40095	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.78	4.78	0.61160	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.468555	0.23189	N	0.050929	T	0.74921	0.3780	N	0.19112	0.55	0.45806	D	0.998683	B;B;B	0.28350	0.208;0.208;0.208	B;B;B	0.37650	0.255;0.15;0.15	T	0.72766	-0.4194	10	0.42905	T	0.14	-11.1912	10.2424	0.43321	0.8335:0.1664:0.0:0.0	.	1526;1520;1519	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	R	1519;1479;1432;1526;1355;1526;1433;1520;1519;1526;1480;1356;1324;1323	ENSP00000316879:Q1519R;ENSP00000391935:Q1479R;ENSP00000376320:Q1432R;ENSP00000371767:Q1526R;ENSP00000317600:Q1355R;ENSP00000338020:Q1526R;ENSP00000407682:Q1433R;ENSP00000343450:Q1520R;ENSP00000323737:Q1519R;ENSP00000416255:Q1526R;ENSP00000395974:Q1480R;ENSP00000399858:Q1356R;ENSP00000411826:Q1324R;ENSP00000404754:Q1323R	ENSP00000323737:Q1519R	Q	+	2	0	EIF4G1	185532506	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	4.607000	0.61133	1.790000	0.52503	0.369000	0.22263	CAG		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917	
ELMOD3	84173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85598666	85598666	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:85598666G>T	ENST00000409890.2	+	10	1255	c.588G>T	c.(586-588)tgG>tgT	p.W196C	ELMOD3_ENST00000315658.7_Missense_Mutation_p.W196C|ELMOD3_ENST00000409344.3_Missense_Mutation_p.W196C|ELMOD3_ENST00000409013.3_Missense_Mutation_p.W196C|ELMOD3_ENST00000490508.1_3'UTR|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000393852.4_Missense_Mutation_p.W196C|ELMOD3_ENST00000428955.2_Missense_Mutation_p.W196C|RN7SL113P_ENST00000497900.2_RNA			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	196	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W196C(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAAACCACTGGGAGGACCTGG	0.537																																																	2	Substitution - Missense(2)	kidney(2)											104.0	107.0	106.0					2																	85598666		2203	4300	6503	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.588G>T	2.37:g.85598666G>T	ENSP00000386304:p.Trp196Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465807	0.84425	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	6.07	6.07	0.98685	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84920	0.0853	10	0.87932	D	0	-15.4933	18.1378	0.89627	0.0:0.0:1.0:0.0	.	196;196	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	C	196	ENSP00000386257:W196C;ENSP00000387139:W196C;ENSP00000386304:W196C;ENSP00000386248:W196C;ENSP00000377434:W196C;ENSP00000412692:W196C;ENSP00000318264:W196C	ENSP00000318264:W196C	W	+	3	0	ELMOD3	85452177	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.896000	0.92521	2.884000	0.98904	0.655000	0.94253	TGG		0.537	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1		NM_032213	
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2890714	2890714	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr18:2890714A>G	ENST00000254528.3	+	4	748	c.589A>G	c.(589-591)Acg>Gcg	p.T197A		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	197					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.T197A(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACTCACAAGGACGGTTCTTGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											79.0	79.0	79.0					18																	2890714		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.589A>G	18.37:g.2890714A>G	ENSP00000254528:p.Thr197Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631668	0.46944	.	.	ENSG00000132205	ENST00000254528	T	0.35789	1.29	5.41	4.27	0.50696	.	0.248741	0.34507	N	0.003908	T	0.20577	0.0495	L	0.31845	0.965	0.27416	N	0.95444	B	0.28439	0.212	B	0.22601	0.04	T	0.14062	-1.0486	10	0.09590	T	0.72	-11.8256	6.677	0.23100	0.7766:0.0:0.077:0.1464	.	197	Q9BXX0	EMIL2_HUMAN	A	197	ENSP00000254528:T197A	ENSP00000254528:T197A	T	+	1	0	EMILIN2	2880714	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	4.857000	0.62939	2.039000	0.60335	0.455000	0.32223	ACG		0.522	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048	
EML5	161436	broad.mit.edu;hgsc.bcm.edu	37	14	89202708	89202708	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:89202708C>G	ENST00000380664.5	-	7	1048	c.1049G>C	c.(1048-1050)aGg>aCg	p.R350T	EML5_ENST00000554922.1_Splice_Site_p.R350T|EML5_ENST00000352093.5_Splice_Site_p.R350T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	350						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R350T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATTTGCTTACCTGACCGAACG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											165.0	157.0	159.0					14																	89202708		1920	4120	6040	SO:0001630	splice_region_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1049+1G>C	14.37:g.89202708C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573802	0.86542	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.68025	-0.3;-0.3;-0.3	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	H	0.95816	3.725	0.80722	D	1	D	0.53619	0.961	P	0.61477	0.889	D	0.90468	0.4451	9	.	.	.	-13.1784	18.6096	0.91279	0.0:1.0:0.0:0.0	.	350	Q05BV3	EMAL5_HUMAN	T	350	ENSP00000451998:R350T;ENSP00000298315:R350T;ENSP00000370039:R350T	.	R	-	2	0	EML5	88272461	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.320000	0.79064	2.634000	0.89283	0.591000	0.81541	AGG		0.438	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			Missense_Mutation
ENPP3	5169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131995388	131995388	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:131995388A>G	ENST00000414305.1	+	9	1057	c.729A>G	c.(727-729)gaA>gaG	p.E243E	ENPP3_ENST00000358229.5_Silent_p.E243E|ENPP3_ENST00000543135.1_Silent_p.E209E|ENPP3_ENST00000427148.2_Silent_p.E209E|ENPP3_ENST00000357639.3_Silent_p.E243E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	243	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E243E(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTTCAAAGGAACAAAATAATC	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	58.0	59.0					6																	131995388		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.729A>G	6.37:g.131995388A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JTL3	Silent	SNP	ENST00000414305.1	37	CCDS5148.1																																																																																				0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			
EPB41L4B	54566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111979310	111979310	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:111979310G>C	ENST00000374566.3	-	16	2042	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	509	His-rich.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.Q509E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tgctgatgctggtgctggtgg	0.582																																																	1	Substitution - Missense(1)	kidney(1)											118.0	120.0	119.0					9																	111979310		2193	4291	6484	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1525C>G	9.37:g.111979310G>C	ENSP00000363694:p.Gln509Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399955	0.42613	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83163	-1.69	5.91	5.91	0.95273	.	.	.	.	.	T	0.69052	0.3068	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.64309	-0.6438	9	0.08179	T	0.78	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	509	Q9H329	E41LB_HUMAN	E	194;509	ENSP00000363694:Q509E	ENSP00000262536:Q194E	Q	-	1	0	EPB41L4B	111019131	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	4.930000	0.63462	2.793000	0.96121	0.655000	0.94253	CAG		0.582	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424	
ETV3	2117	broad.mit.edu;hgsc.bcm.edu	37	1	157105442	157105442	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:157105442G>A	ENST00000368192.4	-	3	169	c.105C>T	c.(103-105)atC>atT	p.I35I	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Silent_p.I35I	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	35					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I35I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GCCACAGCTGGATCTGCCGGG	0.522																																																	2	Substitution - coding silent(2)	kidney(2)											91.0	89.0	90.0					1																	157105442		2203	4300	6503	SO:0001819	synonymous_variant	2117			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.105C>T	1.37:g.157105442G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3M7|Q8TAC8|Q9BX30	Silent	SNP	ENST00000368192.4	37	CCDS44250.1																																																																																				0.522	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2		NM_005240	
EPHX1	2052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226027665	226027665	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:226027665G>A	ENST00000366837.4	+	6	1054	c.858G>A	c.(856-858)aaG>aaA	p.K286K	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.K286K	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	286					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.K286K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACCCCGTCAAGGAGAAGGTAT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											158.0	137.0	144.0					1																	226027665		2203	4300	6503	SO:0001819	synonymous_variant	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.858G>A	1.37:g.226027665G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	CCDS1547.1																																																																																				0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1		NM_000120	
AMER3	205147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131521736	131521736	+	Silent	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:131521736A>T	ENST00000423981.1	+	2	2201	c.2091A>T	c.(2089-2091)ccA>ccT	p.P697P	AMER3_ENST00000321420.4_Silent_p.P697P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	697					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P697P(1)									CATGGCCTCCAAGGCAAGACA	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											24.0	24.0	24.0					2																	131521736		2201	4299	6500	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2091A>T	2.37:g.131521736A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698	
CCSER2	54462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	86130950	86130950	+	Frame_Shift_Del	DEL	A	A	-	rs374108752		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:86130950delA	ENST00000224756.8	+	2	327	c.142delA	c.(142-144)aaafs	p.K48fs	CCSER2_ENST00000372088.2_Frame_Shift_Del_p.K48fs|CCSER2_ENST00000359979.4_Frame_Shift_Del_p.K48fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	48					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TAGTAATGTCAAAAGTTACAT	0.353																																																	0													58.0	61.0	60.0					10																	86130950		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.142delA	10.37:g.86130950delA	ENSP00000224756:p.Lys48fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	ENST00000224756.8	37	CCDS31235.1																																																																																				0.353	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2		NM_018999	
FAM178A	55719	hgsc.bcm.edu;ucsc.edu	37	10	102676845	102676845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:102676845delA	ENST00000238961.4	+	3	1245	c.703delA	c.(703-705)aaafs	p.K235fs	FAM178A_ENST00000370271.3_Frame_Shift_Del_p.K235fs|FAM178A_ENST00000370269.3_Frame_Shift_Del_p.K235fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	235						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACTGGGAGCTAAATTCCAGTT	0.493																																																	0													58.0	60.0	59.0					10																	102676845		2203	4300	6503	SO:0001589	frameshift_variant	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.703delA	10.37:g.102676845delA	ENSP00000238961:p.Lys235fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Frame_Shift_Del	DEL	ENST00000238961.4	37	CCDS7500.1																																																																																				0.493	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			
FAM178A	55719	hgsc.bcm.edu	37	10	102676847	102676847	+	Missense_Mutation	SNP	A	A	T	rs562339204		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:102676847A>T	ENST00000238961.4	+	3	1247	c.705A>T	c.(703-705)aaA>aaT	p.K235N	FAM178A_ENST00000370271.3_Missense_Mutation_p.K235N|FAM178A_ENST00000370269.3_Missense_Mutation_p.K235N	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	235						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TGGGAGCTAAATTCCAGTTGT	0.493																																																	0													59.0	61.0	60.0					10																	102676847		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.705A>T	10.37:g.102676847A>T	ENSP00000238961:p.Lys235Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405135	0.42613	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51817	0.69;1.33;1.32	5.8	2.89	0.33648	.	0.329783	0.26669	N	0.023117	T	0.26846	0.0657	N	0.19112	0.55	0.30748	N	0.745419	B;P;P	0.41848	0.447;0.59;0.763	B;B;B	0.37144	0.22;0.22;0.242	T	0.18085	-1.0348	10	0.41790	T	0.15	-1.7172	5.663	0.17680	0.1663:0.0:0.6773:0.1564	.	235;235;235	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	N	235	ENSP00000359294:K235N;ENSP00000238961:K235N;ENSP00000359292:K235N	ENSP00000238961:K235N	K	+	3	2	FAM178A	102666837	0.032000	0.19561	0.996000	0.52242	0.738000	0.42128	0.064000	0.14437	0.342000	0.23796	-0.248000	0.11899	AAA		0.493	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			
FAM19A4	151647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	68788346	68788346	+	Silent	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:68788346G>C	ENST00000295569.7	-	5	783	c.291C>G	c.(289-291)tcC>tcG	p.S97S		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	97						extracellular region (GO:0005576)		p.S97S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GAATCACAATGGAAGCTGGAA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	123.0	128.0					3																	68788346		2203	4300	6503	SO:0001819	synonymous_variant	151647			AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.291C>G	3.37:g.68788346G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MVT2	Silent	SNP	ENST00000295569.7	37	CCDS2907.1																																																																																				0.408	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1		NM_182522	
BRINP2	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177249817	177249817	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:177249817T>C	ENST00000361539.4	+	8	1817	c.1505T>C	c.(1504-1506)tTt>tCt	p.F502S	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	502					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.F502S(1)									CTGGAAAACTTTCTTGGGCTG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											31.0	34.0	33.0					1																	177249817		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1505T>C	1.37:g.177249817T>C	ENSP00000354481:p.Phe502Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667392	0.29604	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.55588	0.51	5.16	3.91	0.45181	.	0.116515	0.64402	D	0.000013	T	0.44726	0.1307	L	0.38175	1.15	0.36004	D	0.837597	B;B	0.33266	0.404;0.037	B;B	0.38755	0.281;0.047	T	0.58819	-0.7569	10	0.87932	D	0	-15.6157	9.1343	0.36863	0.2863:0.0:0.0:0.7137	.	397;502	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	S	255;502	ENSP00000354481:F502S	ENSP00000354481:F502S	F	+	2	0	FAM5B	175516440	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	4.503000	0.60407	1.943000	0.56356	0.260000	0.18958	TTT		0.577	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165	
FRYL	285527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48566087	48566087	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:48566087C>G	ENST00000503238.1	-	28	3473	c.3474G>C	c.(3472-3474)ttG>ttC	p.L1158F	FRYL_ENST00000358350.4_Missense_Mutation_p.L1158F|FRYL_ENST00000507711.1_Missense_Mutation_p.L1158F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L1158F			O94915	FRYL_HUMAN	FRY-like	1158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L1158F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTCCAGTAACAACGTAACTG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											64.0	67.0	66.0					4																	48566087		1982	4166	6148	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3474G>C	4.37:g.48566087C>G	ENSP00000426064:p.Leu1158Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353305|2.353305	0.41700|0.41700	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.04917|.	3.53;3.53;3.53;3.55|.	5.38|5.38	-1.64|-1.64	0.08318|0.08318	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.56097|.	U|.	0.000021|.	T|T	0.62245|0.62245	0.2412|0.2412	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.985|.	D;D|.	0.79108|.	0.992;0.927|.	T|T	0.59899|0.59899	-0.7367|-0.7367	10|5	0.09843|.	T|.	0.71|.	.|.	2.6206|2.6206	0.04915|0.04915	0.1129:0.4561:0.1126:0.3184|0.1129:0.4561:0.1126:0.3184	.|.	1158;1158|.	F2Z2S2;O94915|.	.;FRYL_HUMAN|.	F|L	1158|29	ENSP00000426064:L1158F;ENSP00000351113:L1158F;ENSP00000441114:L1158F;ENSP00000421584:L1158F|.	ENSP00000351113:L1158F|.	L|V	-|-	3|1	2|0	FRYL|FRYL	48260844|48260844	0.997000|0.997000	0.39634|0.39634	0.024000|0.024000	0.17045|0.17045	0.150000|0.150000	0.21749|0.21749	0.794000|0.794000	0.26958|0.26958	-0.287000|-0.287000	0.09064|0.09064	-0.165000|-0.165000	0.13383|0.13383	TTG|GTT		0.512	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			
DDX42	11325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61898808	61898808	+	IGR	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:61898808delA	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.S599fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTCCCCGAAGAAGCCTCTGTT	0.527																																																	0													105.0	106.0	106.0					17																	61898808		2203	4300	6503	SO:0001628	intergenic_variant	117246			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898808delA		Somatic		WXS	Illumina HiSeq	Phase_I	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	CCDS32704.1																																																																																				0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372	
GABRE	2564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151123262	151123262	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:151123262A>T	ENST00000370328.3	-	9	1485	c.1432T>A	c.(1432-1434)Tac>Aac	p.Y478N	GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	478					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y478N(1)|p.Y365N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAGGCGGTAGACATGGATG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											44.0	43.0	43.0					X																	151123262		2203	4300	6503	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1432T>A	X.37:g.151123262A>T	ENSP00000359353:p.Tyr478Asn	Somatic		WXS	Illumina HiSeq	Phase_I	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357104	0.24598	.	.	ENSG00000102287	ENST00000370328	D	0.84800	-1.9	5.68	3.18	0.36537	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.435911	0.19357	N	0.116247	T	0.81842	0.4908	N	0.17800	0.525	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.73987	-0.3809	10	0.18276	T	0.48	.	5.5804	0.17247	0.6483:0.1777:0.0:0.1739	.	478	P78334	GBRE_HUMAN	N	478	ENSP00000359353:Y478N	ENSP00000359353:Y478N	Y	-	1	0	GABRE	150873918	0.999000	0.42202	0.415000	0.26534	0.349000	0.29174	2.048000	0.41278	0.234000	0.21139	-0.391000	0.06502	TAC		0.517	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984	
GNA13	10672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63010386	63010386	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:63010386T>G	ENST00000439174.2	-	4	1368	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	GNA13_ENST00000541118.1_Missense_Mutation_p.M280L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	375					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.M375L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CACTGTAGCATAAGCTGCTTG	0.373																																																	1	Substitution - Missense(1)	kidney(1)											98.0	80.0	86.0					17																	63010386		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1123A>C	17.37:g.63010386T>G	ENSP00000400717:p.Met375Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767994	0.31320	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.85013	-1.8;-1.93	5.93	5.93	0.95920	.	0.065806	0.85682	D	0.000000	D	0.85548	0.5722	N	0.13272	0.32	0.80722	D	1	P	0.45348	0.856	P	0.60949	0.881	D	0.88160	0.2857	10	0.87932	D	0	.	16.0558	0.80805	0.0:0.0:0.0:1.0	.	375	Q14344	GNA13_HUMAN	L	375;280;350	ENSP00000400717:M375L;ENSP00000439647:M280L	ENSP00000239138:M350L	M	-	1	0	GNA13	60440848	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	ATG		0.373	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572	
GPATCH2	55105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	217665062	217665062	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:217665062T>C	ENST00000366935.3	-	8	1347	c.1237A>G	c.(1237-1239)Aga>Gga	p.R413G	GPATCH2_ENST00000489246.2_5'UTR|RP11-361K17.2_ENST00000458184.1_RNA	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	413					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.R413G(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTGTGTCCTCTTTCAGCTCGA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											101.0	102.0	102.0					1																	217665062		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1237A>G	1.37:g.217665062T>C	ENSP00000355902:p.Arg413Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.732852	0.69189	.	.	ENSG00000092978	ENST00000366935	T	0.36157	1.27	6.03	2.12	0.27331	.	0.045726	0.85682	D	0.000000	T	0.32406	0.0828	L	0.32530	0.975	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.02358	-1.1171	10	0.20519	T	0.43	.	11.9147	0.52759	0.0:0.0:0.4262:0.5738	.	413	Q9NW75	GPTC2_HUMAN	G	413	ENSP00000355902:R413G	ENSP00000355902:R413G	R	-	1	2	GPATCH2	215731685	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	1.809000	0.38922	0.460000	0.27045	0.533000	0.62120	AGA		0.313	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1		NM_018040	
GPR133	283383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131616270	131616270	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:131616270G>T	ENST00000261654.5	+	21	2735	c.2176G>T	c.(2176-2178)Gtc>Ttc	p.V726F	GPR133_ENST00000543617.1_Splice_Site_p.V245F|GPR133_ENST00000535015.1_Splice_Site_p.V758F|GPR133_ENST00000376682.4_Splice_Site_p.V412F|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	726					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V726F(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTGTGCAGGTCAACATTGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											151.0	115.0	127.0					12																	131616270		2203	4300	6503	SO:0001630	splice_region_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2176-1G>T	12.37:g.131616270G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.334764|4.334764	0.81801|0.81801	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.55760	.|0.5;0.5;1.26;1.26	4.39|4.39	4.39|4.39	0.52855|0.52855	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.62853|0.62853	0.2462|0.2462	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52692	.|0.642;0.955;0.592	.|P;P;P	.|0.58520	.|0.803;0.84;0.613	T|T	0.62358|0.62358	-0.6871|-0.6871	5|9	.|.	.|.	.|.	.|.	14.7879|14.7879	0.69816|0.69816	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|758;79;726	.|B7ZLF7;Q9NSM3;Q6QNK2	.|.;.;GP133_HUMAN	S|F	79|726;758;412;245	.|ENSP00000261654:V726F;ENSP00000444425:V758F;ENSP00000365872:V412F;ENSP00000438021:V245F	.|.	R|V	+|+	3|1	2|0	GPR133|GPR133	130182223|130182223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	8.094000|8.094000	0.89533|0.89533	2.119000|2.119000	0.64992|0.64992	0.491000|0.491000	0.48974|0.48974	AGG|GTC		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827	Missense_Mutation
GRAMD1A	57655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35501012	35501012	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:35501012G>T	ENST00000317991.5	+	5	534	c.342G>T	c.(340-342)ctG>ctT	p.L114L	GRAMD1A_ENST00000599564.1_Silent_p.L201L|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Silent_p.L114L|GRAMD1A_ENST00000411896.2_Silent_p.L107L|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	114	GRAM.					integral component of membrane (GO:0016021)		p.L114L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTGCGCCCTGCAGCGTGAGA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	92.0	90.0					19																	35501012		1951	4127	6078	SO:0001819	synonymous_variant	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.342G>T	19.37:g.35501012G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	CCDS42546.1																																																																																				0.652	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1		NM_020895	
GSPT1	2935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11971401	11971401	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:11971401C>T	ENST00000563468.1	-	10	1077	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	GSPT1_ENST00000434724.2_Missense_Mutation_p.V489I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000564790.1_5'Flank|GSPT1_ENST00000420576.2_Missense_Mutation_p.V351I|GSPT1_ENST00000439887.2_Missense_Mutation_p.V488I			P15170	ERF3A_HUMAN	G1 to S phase transition 1	351					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.V351I(1)|p.V489I(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCAGTCTCTACATCATCGGAA	0.393																																																	2	Substitution - Missense(2)	kidney(2)											64.0	62.0	62.0					16																	11971401		2027	4211	6238	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1051G>A	16.37:g.11971401C>T	ENSP00000454351:p.Val351Ile	Somatic		WXS	Illumina HiSeq	Phase_I	J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579414	0.46006	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.62788	0.0;0.0;0.0	5.32	5.32	0.75619	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.64402	U	0.000001	T	0.59376	0.2189	L	0.45581	1.43	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.001	B;B;B	0.20384	0.029;0.029;0.004	T	0.57533	-0.7795	10	0.59425	D	0.04	-13.6414	17.5891	0.87991	0.0:1.0:0.0:0.0	.	488;485;351	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	I	489;488;351	ENSP00000398131:V489I;ENSP00000408399:V488I;ENSP00000399539:V351I	ENSP00000399539:V351I	V	-	1	0	GSPT1	11878902	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.459000	0.80802	2.490000	0.84030	0.585000	0.79938	GTA		0.393	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1		NM_002094	
GUSBP1	728411	broad.mit.edu	37	5	21459810	21459810	+	RNA	SNP	C	C	A	rs560966400		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:21459810C>A	ENST00000607545.1	+	0	53					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CGCATCGGGACCGGACCCGCA	0.647											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												728411			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21459810C>A		Somatic	748	WXS	Illumina GAIIx	Phase_I	A6NLY8|A8K1B7|Q969T8|Q9BUH2	Missense_Mutation	SNP	ENST00000607545.1	37																																																																																					0.647	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1		NG_008324	
HIVEP1	3096	hgsc.bcm.edu;ucsc.edu	37	6	12161803	12161803	+	Frame_Shift_Del	DEL	C	C	-	rs34103769		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:12161803delC	ENST00000379388.2	+	8	6951	c.6619delC	c.(6619-6621)cccfs	p.P2207fs	HIVEP1_ENST00000541134.1_Frame_Shift_Del_p.P72fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2207					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAGCCACACCCTCAGTCAC	0.502																																																	0													74.0	84.0	81.0					6																	12161803		2129	4253	6382	SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6619delC	6.37:g.12161803delC	ENSP00000368698:p.Pro2207fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	CCDS43426.1																																																																																				0.502	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114	
HJURP	55355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234754423	234754423	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:234754423T>A	ENST00000411486.2	-	6	511	c.446A>T	c.(445-447)aAa>aTa	p.K149I	HJURP_ENST00000434039.1_5'UTR|HJURP_ENST00000432087.1_Missense_Mutation_p.K95I|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	149					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.K149I(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGTCAAGTATTTCCTTCTTAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											114.0	119.0	117.0					2																	234754423		2203	4300	6503	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.446A>T	2.37:g.234754423T>A	ENSP00000414109:p.Lys149Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472585	0.63737	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000454020	T;T;T	0.52983	2.35;2.38;0.64	4.06	2.87	0.33458	.	0.000000	0.52532	D	0.000074	T	0.56630	0.1998	L	0.59436	1.845	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63113	0.911;0.818	T	0.57093	-0.7870	10	0.87932	D	0	-30.3028	6.8074	0.23784	0.2072:0.0:0.0:0.7928	.	95;149	Q8NCD3-2;Q8NCD3	.;HJURP_HUMAN	I	149;95;108	ENSP00000414109:K149I;ENSP00000407208:K95I;ENSP00000414051:K108I	ENSP00000414109:K149I	K	-	2	0	HJURP	234419162	0.953000	0.32496	0.859000	0.33776	0.982000	0.71751	1.721000	0.38032	0.872000	0.35775	0.460000	0.39030	AAA		0.343	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410	
HSP90AA1	3320	broad.mit.edu;hgsc.bcm.edu	37	14	102552583	102552583	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:102552583G>C	ENST00000216281.8	-	2	338	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.L167V	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	45					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.L167V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AGCTCTCTCAGAAAGATCTCT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											52.0	54.0	53.0					14																	102552583		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.133C>G	14.37:g.102552583G>C	ENSP00000216281:p.Leu45Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	6.312	0.425664	0.11987	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.81330	-1.48;-1.48;-1.48	3.79	1.85	0.25348	Heat shock protein Hsp90, conserved site (1);Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	U	0.000014	D	0.89891	0.6846	M	0.92169	3.28	0.80722	D	1	P;P	0.52316	0.952;0.894	D;D	0.69307	0.958;0.963	D	0.89487	0.3754	10	0.87932	D	0	.	8.965	0.35872	0.3359:0.0:0.6641:0.0	.	167;45	P07900-2;P07900	.;HS90A_HUMAN	V	45;167;45	ENSP00000216281:L45V;ENSP00000335153:L167V;ENSP00000450712:L45V	ENSP00000216281:L45V	L	-	1	2	HSP90AA1	101622336	1.000000	0.71417	0.990000	0.47175	0.370000	0.29829	3.744000	0.55112	0.704000	0.31869	0.573000	0.79308	CTG		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348	
HSPH1	10808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31729705	31729705	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:31729705C>G	ENST00000320027.5	-	3	596	c.252G>C	c.(250-252)aaG>aaC	p.K84N	HSPH1_ENST00000380406.5_Missense_Mutation_p.K84N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K84N|HSPH1_ENST00000429785.2_5'UTR|HSPH1_ENST00000445273.2_Missense_Mutation_p.K86N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	84					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K84N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAGTTTTCCTTCTCCTTTT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											107.0	104.0	105.0					13																	31729705		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.252G>C	13.37:g.31729705C>G	ENSP00000318687:p.Lys84Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592630	0.46214	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.04234	5.44;5.44;3.67;5.44	5.75	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	L	0.60067	1.865	0.80722	D	1	P;P;B;P;B;B	0.40660	0.726;0.726;0.182;0.567;0.098;0.234	B;B;B;B;B;B	0.43274	0.414;0.414;0.127;0.366;0.112;0.366	T	0.15292	-1.0442	10	0.45353	T	0.12	-29.6434	9.6456	0.39865	0.0:0.7107:0.0:0.2893	.	135;135;84;86;84;84	E7EUG1;B4DZB4;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;.;HS105_HUMAN	N	84;84;84;86;135	ENSP00000318687:K84N;ENSP00000369768:K84N;ENSP00000369769:K84N;ENSP00000396090:K86N	ENSP00000318687:K84N	K	-	3	2	HSPH1	30627705	0.965000	0.33210	1.000000	0.80357	0.992000	0.81027	1.225000	0.32551	1.426000	0.47256	0.563000	0.77884	AAG		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			
HTR2C	3358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	113965887	113965887	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:113965887G>C	ENST00000276198.1	+	4	948	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	HTR2C_ENST00000371950.3_Missense_Mutation_p.V74L|HTR2C_ENST00000371951.1_Missense_Mutation_p.V74L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	74					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V74L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAACATCCTTGTGATCATGGC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											212.0	163.0	179.0					X																	113965887		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.220G>C	X.37:g.113965887G>C	ENSP00000276198:p.Val74Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033427	0.75504	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	D;D;D	0.84070	-1.8;-1.8;-1.8	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94660	0.7847	10	0.87932	D	0	.	15.3884	0.74723	0.0:0.0:1.0:0.0	.	74;74	B1AMW4;P28335	.;5HT2C_HUMAN	L	74	ENSP00000276198:V74L;ENSP00000361019:V74L;ENSP00000361018:V74L	ENSP00000276198:V74L	V	+	1	0	HTR2C	113872143	1.000000	0.71417	0.625000	0.29200	0.528000	0.34623	7.791000	0.85805	2.520000	0.84964	0.594000	0.82650	GTG		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1		NM_000868	
INTS8	55656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95861709	95861709	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:95861709A>C	ENST00000523731.1	+	11	1413	c.1280A>C	c.(1279-1281)aAt>aCt	p.N427T	INTS8_ENST00000447247.1_Missense_Mutation_p.N427T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	427					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.N427T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGATCAGTAAATTTAGAAAAA	0.254																																																	1	Substitution - Missense(1)	kidney(1)											54.0	63.0	60.0					8																	95861709		2197	4286	6483	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1280A>C	8.37:g.95861709A>C	ENSP00000430338:p.Asn427Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.358123|1.358123	0.24598|0.24598	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.55|5.55	4.38|4.38	0.52667|0.52667	.|.	.|0.245199	.|0.49305	.|D	.|0.000141	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.08118|0.08118	0|0	0.29123|0.29123	N|N	0.880102|0.880102	.|B;B	.|0.13145	.|0.007;0.007	.|B;B	.|0.18263	.|0.013;0.021	T|T	0.16100|0.16100	-1.0414|-1.0414	5|9	.|0.19147	.|T	.|0.46	-5.9386|-5.9386	8.0123|8.0123	0.30361|0.30361	0.7231:0.1417:0.0:0.1353|0.7231:0.1417:0.0:0.1353	.|.	.|427;427	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	L|T	249|427	.|.	.|ENSP00000343274:N427T	I|N	+|+	1|2	0|0	INTS8|INTS8	95930885|95930885	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	3.654000|3.654000	0.54453|0.54453	1.014000|1.014000	0.39417|0.39417	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.254	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1		NM_017864	
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153278674	153278674	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:153278674G>T	ENST00000369980.3	-	12	1917	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K	IRAK1_ENST00000429936.2_Missense_Mutation_p.Q580K|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.Q505K|IRAK1_ENST00000393682.1_Missense_Mutation_p.Q565K|IRAK1_ENST00000393687.2_Missense_Mutation_p.Q554K	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	584					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q584K(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACGGGCTGGTTGGGGCCT	0.682																																																	2	Substitution - Missense(2)	kidney(2)											16.0	17.0	17.0					X																	153278674		2199	4281	6480	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1750C>A	X.37:g.153278674G>T	ENSP00000358997:p.Gln584Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.334569|2.334569	0.41297|0.41297	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;T;T;T;T	.|0.23754	.|1.89;1.89;1.89;1.89;1.89	5.32|5.32	4.45|4.45	0.53987|0.53987	.|.	.|0.432286	.|0.20015	.|N	.|0.101021	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.34521|0.34521	1.04|1.04	0.28485|0.28485	N|N	0.914787|0.914787	.|P;P;P	.|0.51449	.|0.705;0.908;0.945	.|B;B;P	.|0.50440	.|0.359;0.437;0.641	T|T	0.02950|0.02950	-1.1090|-1.1090	5|10	.|0.06099	.|T	.|0.92	-17.9117|-17.9117	11.1336|11.1336	0.48362|0.48362	0.0:0.1811:0.8189:0.0|0.0:0.1811:0.8189:0.0	.|.	.|505;584;554	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	Q|K	139;332|584;505;565;554;580	.|ENSP00000358997:Q584K;ENSP00000358991:Q505K;ENSP00000377287:Q565K;ENSP00000377291:Q554K;ENSP00000392662:Q580K	.|ENSP00000358991:Q505K	P|Q	-|-	2|1	0|0	IRAK1|IRAK1	152931868|152931868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	2.522000|2.522000	0.45572|0.45572	1.017000|1.017000	0.39495|0.39495	0.600000|0.600000	0.82982|0.82982	CCA|CAG		0.682	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			
KCNJ12	3768	hgsc.bcm.edu	37	17	21318760	21318760	+	Missense_Mutation	SNP	G	G	T	rs74880280	byFrequency	TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:21318760G>T	ENST00000583088.1	+	3	1001	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V36L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	36					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAACGGCAAGGTGCACACGCG	0.642										Prostate(3;0.18)																																							0													105.0	83.0	90.0					17																	21318760		2203	4300	6503	SO:0001583	missense	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.106G>T	17.37:g.21318760G>T	ENSP00000463778:p.Val36Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	300	0.13736263736263737	124	0.25203252032520324	51	0.1408839779005525	0	0.0	125	0.16490765171503957	G	13.78	2.339733	0.41398	.	.	ENSG00000184185	ENST00000331718	T	0.47177	0.85	5.33	4.28	0.50868	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	1.347560	0.05111	N	0.488898	T	0.00012	0.0000	N	0.08118	0	0.35222	D	0.776081	B	0.02656	0.0	B	0.06405	0.002	T	0.50857	-0.8778	10	0.19590	T	0.45	.	3.4799	0.07598	0.3718:0.0:0.6282:0.0	.	36	Q14500	IRK12_HUMAN	L	36	ENSP00000328150:V36L	ENSP00000328150:V36L	V	+	1	0	KCNJ12	21259353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.295000	0.65692	2.506000	0.84524	0.591000	0.81541	GTG		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
ZSWIM8	23053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75556685	75556685	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:75556685T>C	ENST00000605216.1	+	16	3389	c.3172T>C	c.(3172-3174)Tca>Cca	p.S1058P	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1063P|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1063P|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1058P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1025P	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1058							zinc ion binding (GO:0008270)	p.S1058P(1)|p.S1063P(1)|p.S443P(1)									ACCACTGACCTCAGGCTCTGC	0.642																																																	3	Substitution - Missense(3)	kidney(3)											46.0	49.0	48.0					10																	75556685		1918	4143	6061	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3172T>C	10.37:g.75556685T>C	ENSP00000474748:p.Ser1058Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.56|11.56	1.674090|1.674090	0.29693|0.29693	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.46063	.|0.88	5.3|5.3	3.02|3.02	0.34903|0.34903	.|.	.|0.376451	.|0.16903	.|U	.|0.194820	T|T	0.25306|0.25306	0.0615|0.0615	N|N	0.21448|0.21448	0.665|0.665	0.32893|0.32893	D|D	0.512186|0.512186	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.19451|0.19451	-1.0305|-1.0305	5|10	.|0.29301	.|T	.|0.29	-4.2293|-4.2293	7.2609|7.2609	0.26203|0.26203	0.0:0.1877:0.0:0.8123|0.0:0.1877:0.0:0.8123	.|.	.|1058;1070;1058;1063	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	P|P	773|1063	.|ENSP00000381693:S1063P	.|ENSP00000381693:S1063P	L|S	+|+	2|1	0|0	KIAA0913|KIAA0913	75226691|75226691	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.765000|1.765000	0.38481|0.38481	2.009000|2.009000	0.58944|0.58944	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.642	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487	
UNC79	57578	broad.mit.edu;hgsc.bcm.edu	37	14	94129061	94129061	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:94129061G>A	ENST00000393151.2	+	41	6753		c.e41+1		UNC79_ENST00000553484.1_Splice_Site|UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)						behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCACTAAGGTAAGCAAGCT	0.423																																																	2	Unknown(2)	kidney(2)											129.0	109.0	115.0					14																	94129061		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6753+1G>A	14.37:g.94129061G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDL6|Q6ZUT7	Splice_Site	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473222	0.84640	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8193	0.96586	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1409	93198814	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.869000	0.99810	2.690000	0.91761	0.555000	0.69702	.		0.423	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395	Intron
KIF27	55582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86518027	86518027	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:86518027C>A	ENST00000297814.2	-	4	1549	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V	KIF27_ENST00000413982.1_Missense_Mutation_p.G469V|KIF27_ENST00000334204.2_Missense_Mutation_p.G469V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	469					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G469V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATGCTGTGGTCCTTCTTCCAG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											119.0	114.0	115.0					9																	86518027		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1406G>T	9.37:g.86518027C>A	ENSP00000297814:p.Gly469Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871664	0.51695	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.57107	0.42;0.42;0.42	5.2	4.31	0.51392	.	0.244521	0.27518	N	0.019011	T	0.54870	0.1885	L	0.51422	1.61	0.50039	D	0.999843	P;P;P	0.51240	0.493;0.943;0.808	B;P;B	0.54815	0.143;0.761;0.261	T	0.50180	-0.8858	10	0.25751	T	0.34	.	8.06	0.30627	0.0:0.8165:0.0:0.1835	.	469;469;469	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	469	ENSP00000297814:G469V;ENSP00000401688:G469V;ENSP00000333928:G469V	ENSP00000297814:G469V	G	-	2	0	KIF27	85707847	0.431000	0.25546	1.000000	0.80357	0.861000	0.49209	0.536000	0.23129	1.202000	0.43218	0.655000	0.94253	GGA		0.413	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576	
KRTAP5-4	387267	broad.mit.edu	37	11	1643006	1643006	+	Silent	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:1643006G>C	ENST00000399682.1	-	1	362	c.318C>G	c.(316-318)ggC>ggG	p.G106G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G106G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCACAGG	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											6.0	14.0	11.0					11																	1643006		642	1507	2149	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.318C>G	11.37:g.1643006G>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000399682.1	37																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1		NM_001012709	
LONRF3	79836	broad.mit.edu;hgsc.bcm.edu	37	X	118108850	118108850	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:118108850G>T	ENST00000371628.3	+	1	138	c.107G>T	c.(106-108)gGc>gTc	p.G36V	LONRF3_ENST00000304778.7_Missense_Mutation_p.G36V|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	36							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.G36V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTAGACATGGGCCCCCACCCA	0.647																																																	2	Substitution - Missense(2)	kidney(2)											20.0	19.0	19.0					X																	118108850		2193	4291	6484	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.107G>T	X.37:g.118108850G>T	ENSP00000360690:p.Gly36Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	6.542	0.468271	0.12461	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.81163	-1.46;-1.46;-1.19	4.58	0.535	0.17133	.	0.696518	0.12552	N	0.458979	T	0.72277	0.3440	L	0.36672	1.1	0.09310	N	0.999991	P;B	0.37207	0.587;0.099	B;B	0.41894	0.369;0.082	T	0.62129	-0.6919	10	0.54805	T	0.06	-11.2316	6.5201	0.22271	0.1681:0.276:0.5559:0.0	.	36;36	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	V	36	ENSP00000360691:G36V;ENSP00000307732:G36V;ENSP00000360690:G36V	ENSP00000307732:G36V	G	+	2	0	LONRF3	117992878	0.030000	0.19436	0.001000	0.08648	0.011000	0.07611	0.550000	0.23345	0.048000	0.15891	0.529000	0.55759	GGC		0.647	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2		NM_024778	
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170103247	170103247	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:170103247T>A	ENST00000263816.3	-	21	3443	c.3158A>T	c.(3157-3159)gAt>gTt	p.D1053V	LRP2_ENST00000443831.1_Missense_Mutation_p.D916V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1053	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D1053V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCACTGTTATCATGACAATC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											226.0	217.0	220.0					2																	170103247		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3158A>T	2.37:g.170103247T>A	ENSP00000263816:p.Asp1053Val	Somatic		WXS	Illumina HiSeq	Phase_I	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117882	0.77323	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97665	-4.48;-4.48	5.9	5.9	0.94986	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98805	1.0741	10	0.87932	D	0	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	916;1053	E9PC35;P98164	.;LRP2_HUMAN	V	1053;916	ENSP00000263816:D1053V;ENSP00000409813:D916V	ENSP00000263816:D1053V	D	-	2	0	LRP2	169811493	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	7.740000	0.84986	2.254000	0.74563	0.460000	0.39030	GAT		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75650469	75650469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:75650469G>T	ENST00000361470.2	+	1	2424	c.2146G>T	c.(2146-2148)Gaa>Taa	p.E716*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	716						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E716*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTTTTTTGAGGAAGCTGCTGC	0.512																																																	2	Substitution - Nonsense(2)	kidney(2)											56.0	43.0	47.0					X																	75650469		2203	4300	6503	SO:0001587	stop_gained	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2146G>T	X.37:g.75650469G>T	ENSP00000354912:p.Glu716*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	38	6.769034	0.97825	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.26	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	4.1705	0.10327	0.2145:0.0:0.7855:0.0	.	.	.	.	X	716	.	ENSP00000354912:E716X	E	+	1	0	MAGEE1	75566873	0.999000	0.42202	0.109000	0.21407	0.929000	0.56500	1.865000	0.39479	0.377000	0.24735	0.544000	0.68410	GAA		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932	
MAP3K1	4214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56160679	56160679	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:56160679T>G	ENST00000399503.3	+	4	953	c.953T>G	c.(952-954)tTa>tGa	p.L318*	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	318					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L155*(1)|p.L318*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACTGTACTTACTGCAGCAG	0.512																																																	2	Substitution - Nonsense(2)	kidney(2)											114.0	113.0	113.0					5																	56160679		1903	4109	6012	SO:0001587	stop_gained	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.953T>G	5.37:g.56160679T>G	ENSP00000382423:p.Leu318*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932502	0.92458	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.897	0.79341	0.0:0.0:0.0:1.0	.	.	.	.	X	318	.	ENSP00000382423:L318X	L	+	2	0	MAP3K1	56196436	1.000000	0.71417	0.569000	0.28460	0.680000	0.39746	6.955000	0.76007	2.209000	0.71365	0.460000	0.39030	TTA		0.512	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066	
MARS2	92935	hgsc.bcm.edu	37	2	198570416	198570416	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:198570416G>C	ENST00000282276.6	+	1	330	c.287G>C	c.(286-288)gGg>gCg	p.G96A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	96					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G96A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GACGAGCACGGGCTGAAGATT	0.672																																																	1	Substitution - Missense(1)	kidney(1)											20.0	23.0	22.0					2																	198570416		2203	4297	6500	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.287G>C	2.37:g.198570416G>C	ENSP00000282276:p.Gly96Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808177	0.90707	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.80738	-1.41	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92509	0.7621	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93930	0.7213	10	0.87932	D	0	-19.583	17.5058	0.87745	0.0:0.0:1.0:0.0	.	96	Q96GW9	SYMM_HUMAN	A	96	ENSP00000282276:G96A	ENSP00000282276:G96A	G	+	2	0	MARS2	198278661	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	9.472000	0.97709	2.706000	0.92434	0.655000	0.94253	GGG		0.672	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1		NM_138395	
MFN1	55669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	179096586	179096586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:179096586C>A	ENST00000471841.1	+	14	1772	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.S549*|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	549					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S549*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAGGATTATCAGAGCCTATC	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											81.0	80.0	80.0					3																	179096586		2196	4299	6495	SO:0001587	stop_gained	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1646C>A	3.37:g.179096586C>A	ENSP00000420617:p.Ser549*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585641	0.96578	.	.	ENSG00000171109	ENST00000471841;ENST00000263969	.	.	.	5.16	5.16	0.70880	.	0.411976	0.23951	N	0.042944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2998	18.6527	0.91437	0.0:1.0:0.0:0.0	.	.	.	.	X	549	.	ENSP00000263969:S549X	S	+	2	0	MFN1	180579280	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.038000	0.57318	2.405000	0.81733	0.591000	0.81541	TCA		0.358	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927	
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182759359	182759359	+	Silent	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:182759359C>G	ENST00000265594.4	-	11	1409	c.1263G>C	c.(1261-1263)cgG>cgC	p.R421R	MCCC1_ENST00000539926.1_Silent_p.R286R|MCCC1_ENST00000492597.1_Silent_p.R312R	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	421	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|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)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R421R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTTACCTTGCCGTACTCCAG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	86.0	86.0					3																	182759359		2203	4300	6503	SO:0001819	synonymous_variant	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1263G>C	3.37:g.182759359C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	CCDS3241.1																																																																																				0.418	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166	
MFSD7	84179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	677418	677418	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:677418C>T	ENST00000404286.2	-	7	991	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	MFSD7_ENST00000347950.5_Missense_Mutation_p.A207T|MFSD7_ENST00000503156.1_Missense_Mutation_p.A261T|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000322224.4_Missense_Mutation_p.A325T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A229T	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A325T(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCACGCAGGCCAGAGAGAAC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											47.0	48.0	48.0					4																	677418		2202	4298	6500	SO:0001583	missense	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.976G>A	4.37:g.677418C>T	ENSP00000384616:p.Ala326Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	C	10.45	1.352830	0.24512	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	4.82	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);	0.382984	0.28241	N	0.016066	T	0.36799	0.0980	L	0.28608	0.87	0.23445	N	0.997662	B;P;P;B;B	0.36010	0.08;0.532;0.532;0.099;0.162	B;B;B;B;B	0.30943	0.081;0.122;0.122;0.085;0.037	T	0.13202	-1.0518	10	0.20519	T	0.43	-11.5748	6.7384	0.23422	0.0:0.8274:0.0:0.1726	.	261;229;207;326;325	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	T	207;325;326;229;261;143	ENSP00000307545:A207T;ENSP00000320234:A325T;ENSP00000384616:A326T;ENSP00000423204:A229T;ENSP00000425753:A261T;ENSP00000425038:A143T	ENSP00000320234:A325T	A	-	1	0	MFSD7	667418	1.000000	0.71417	0.961000	0.40146	0.190000	0.23558	2.144000	0.42197	0.928000	0.37168	0.558000	0.71614	GCC		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219	
MKRN3	7681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23811293	23811293	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:23811293T>A	ENST00000314520.3	+	1	840	c.364T>A	c.(364-366)Tct>Act	p.S122T	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	122					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S122T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCACGACCTTTCTGGTCGGAA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											55.0	57.0	56.0					15																	23811293		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.364T>A	15.37:g.23811293T>A	ENSP00000313881:p.Ser122Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619053	0.46736	.	.	ENSG00000179455	ENST00000314520	T	0.34667	1.35	3.94	-2.6	0.06190	Zinc finger, CCCH-type (1);	0.428519	0.22993	N	0.053176	T	0.17450	0.0419	N	0.21508	0.67	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.08269	-1.0730	10	0.33940	T	0.23	.	4.4107	0.11432	0.0:0.3106:0.3511:0.3382	.	122	Q13064	MKRN3_HUMAN	T	122	ENSP00000313881:S122T	ENSP00000313881:S122T	S	+	1	0	MKRN3	21362386	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.376000	0.07465	-0.521000	0.06426	0.460000	0.39030	TCT		0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664	
MYO9B	4650	hgsc.bcm.edu	37	19	17311226	17311226	+	Missense_Mutation	SNP	G	G	A	rs117099942	byFrequency	TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:17311226G>A	ENST00000594824.1	+	25	4510	c.4363G>A	c.(4363-4365)Ggc>Agc	p.G1455S	MYO9B_ENST00000595618.1_Missense_Mutation_p.G1455S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1455S			Q13459	MYO9B_HUMAN	myosin IXB	1455	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CATGAAGAAGGGCCTGGAAGG	0.582													G|||	59	0.0117812	0.003	0.0173	5008	,	,		17504	0.0		0.0398	False		,,,				2504	0.0031																0								G	SER/GLY,SER/GLY	29,4039		0,29,2005	23.0	29.0	27.0		4363,4363	-0.4	0.1	19	dbSNP_132	27	332,8034		10,312,3861	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	56,56	10,341,5866	AA,AG,GG		3.9684,0.7129,2.9033	benign,benign	1455/2023,1455/2158	17311226	361,12073	2034	4183	6217	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4363G>A	19.37:g.17311226G>A	ENSP00000471367:p.Gly1455Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		35	0.016025641025641024	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	29	0.03825857519788918	G	6.898	0.535158	0.13188	0.007129	0.039684	ENSG00000099331	ENST00000397274	D	0.83914	-1.78	4.76	-0.356	0.12583	.	1.469460	0.04433	N	0.369629	T	0.29914	0.0748	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.43909	-0.9362	10	0.08837	T	0.75	.	4.1447	0.10210	0.452:0.1879:0.3601:0.0	.	1455;1455;1455;1461	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	S	1455	ENSP00000380444:G1455S	ENSP00000380444:G1455S	G	+	1	0	MYO9B	17172226	0.235000	0.23794	0.059000	0.19551	0.404000	0.30871	0.710000	0.25748	0.164000	0.19529	0.491000	0.48974	GGC		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50753042	50753042	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:50753042C>G	ENST00000596571.1	+	12	1594	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V	MYH14_ENST00000376970.2_Missense_Mutation_p.L532V|MYH14_ENST00000598205.1_Missense_Mutation_p.L540V|MYH14_ENST00000601313.1_Missense_Mutation_p.L540V|MYH14_ENST00000262269.8_Missense_Mutation_p.L540V|MYH14_ENST00000440075.2_Missense_Mutation_p.L540V|MYH14_ENST00000425460.1_Missense_Mutation_p.L540V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	532	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L540V(1)|p.L532V(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGACTTTGGCCTCGACCTGCA	0.632																																																	2	Substitution - Missense(2)	kidney(2)											162.0	140.0	147.0					19																	50753042		2203	4300	6503	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1594C>G	19.37:g.50753042C>G	ENSP00000472819:p.Leu532Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627385	0.46944	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.37	3.33	0.38152	Myosin head, motor domain (3);	.	.	.	.	D	0.89068	0.6610	L	0.56769	1.78	0.80722	D	1	D;P;P	0.60160	0.987;0.756;0.712	P;B;B	0.57911	0.829;0.343;0.232	D	0.88816	0.3295	9	0.87932	D	0	.	9.5117	0.39080	0.0:0.8916:0.0:0.1084	.	540;532;540	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	532;540;532;540;532;540	ENSP00000406273:L540V;ENSP00000366169:L532V;ENSP00000407879:L540V;ENSP00000262269:L540V	ENSP00000262269:L540V	L	+	1	0	MYH14	55444854	1.000000	0.71417	0.994000	0.49952	0.590000	0.36582	1.518000	0.35877	1.162000	0.42619	0.655000	0.94253	CTC		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729	
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33110320	33110320	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:33110320A>G	ENST00000267068.3	-	2	1009	c.845T>C	c.(844-846)cTt>cCt	p.L282P	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.L282P	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	282					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.L282P(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAAACTGGGAAGAGGGGGACC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											60.0	61.0	61.0					13																	33110320		2203	4300	6503	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.845T>C	13.37:g.33110320A>G	ENSP00000267068:p.Leu282Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576025	0.28092	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.46451	0.87;0.88;0.87	5.57	1.87	0.25490	.	.	.	.	.	T	0.22244	0.0536	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.04307	-1.0961	9	0.51188	T	0.08	-8.2882	6.4834	0.22075	0.4367:0.0:0.5633:0.0	.	282;282	D6R968;Q92802	.;N42L2_HUMAN	P	282	ENSP00000394239:L282P;ENSP00000423362:L282P;ENSP00000267068:L282P	ENSP00000267068:L282P	L	-	2	0	N4BP2L2	32008320	1.000000	0.71417	0.990000	0.47175	0.681000	0.39784	1.943000	0.40253	0.406000	0.25560	0.455000	0.32223	CTT		0.388	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1		NM_014887	
NACA	4666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57114669	57114669	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:57114669G>C	ENST00000454682.1	-	3	926	c.645C>G	c.(643-645)caC>caG	p.H215Q	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.H215Q|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	215	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H215Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTCACACAGTGGTAAGGAA	0.488			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	1	Substitution - Missense(1)	kidney(1)											209.0	196.0	200.0					12																	57114669		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.645C>G	12.37:g.57114669G>C	ENSP00000403817:p.His215Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	10.43	1.347947	0.24426	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33865	1.39;1.39	4.36	0.0504	0.14293	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P;P	0.50617	0.937;0.557	B;B	0.42959	0.403;0.203	T	0.12477	-1.0546	9	0.87932	D	0	.	2.4162	0.04437	0.3848:0.0:0.3915:0.2238	.	215;215	E9PAV3;F8VU71	.;.	Q	215	ENSP00000403817:H215Q;ENSP00000448035:H215Q	ENSP00000403817:H215Q	H	-	3	2	NACA	55400936	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-0.557000	0.05985	0.645000	0.30675	0.289000	0.19496	CAC		0.488	NACA-201	KNOWN	basic	protein_coding	protein_coding			NM_005594	
NALCN	259232	hgsc.bcm.edu;ucsc.edu	37	13	101797201	101797201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:101797201delA	ENST00000251127.6	-	16	1967	c.1886delT	c.(1885-1887)ttafs	p.L629fs		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	629					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCGCAGGCGTAAAGGGAGCTT	0.343																																																	0													173.0	189.0	183.0					13																	101797201		2203	4300	6503	SO:0001589	frameshift_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1886delT	13.37:g.101797201delA	ENSP00000251127:p.Leu629fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Frame_Shift_Del	DEL	ENST00000251127.6	37	CCDS9498.1																																																																																				0.343	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867	
NCAPG2	54892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	158447311	158447311	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr7:158447311G>T	ENST00000409423.1	-	23	2894	c.2722C>A	c.(2722-2724)Cgg>Agg	p.R908R	NCAPG2_ENST00000449727.2_Silent_p.R908R|NCAPG2_ENST00000409339.3_Silent_p.R908R|NCAPG2_ENST00000275830.10_Silent_p.R700R|NCAPG2_ENST00000356309.3_Silent_p.R908R|NCAPG2_ENST00000541468.1_Silent_p.R409R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	908					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.R908R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCAAGACTCCGCTGTAAGAGT	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											185.0	179.0	181.0					7																	158447311		1939	4153	6092	SO:0001819	synonymous_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2722C>A	7.37:g.158447311G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364807	0.01235	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.79	-4.56	0.03431	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	-0.1324	6.6849	0.23140	0.4063:0.0:0.3437:0.2499	.	.	.	.	R	709	.	.	S	-	3	2	NCAPG2	158140072	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.890000	0.04140	-0.638000	0.05509	-0.310000	0.09108	AGC		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1		NM_017760	
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56369055	56369055	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:56369055A>G	ENST00000301295.6	+	3	718	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	NLRP4_ENST00000587891.1_Missense_Mutation_p.Y24C|NLRP4_ENST00000346986.5_Missense_Mutation_p.Y99C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	99				Y -> H (in Ref. 4; AAL88672). {ECO:0000305}.	inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Y99C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACAAAGACCTATCAAGCTCAC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											89.0	85.0	86.0					19																	56369055		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.296A>G	19.37:g.56369055A>G	ENSP00000301295:p.Tyr99Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849380	0.32699	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.76709	-1.04;-1.0	3.62	2.61	0.31194	DEATH-like (1);	.	.	.	.	T	0.77671	0.4165	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63346	-0.6658	9	0.49607	T	0.09	.	5.6804	0.17771	0.8764:0.0:0.1236:0.0	.	24;99	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	C	99	ENSP00000301295:Y99C;ENSP00000344787:Y99C	ENSP00000301295:Y99C	Y	+	2	0	NLRP4	61060867	0.075000	0.21258	0.002000	0.10522	0.001000	0.01503	1.800000	0.38833	0.757000	0.33036	-0.250000	0.11733	TAT		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444	
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120462002	120462002	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:120462002G>T	ENST00000256646.2	-	31	5933	c.5714C>A	c.(5713-5715)gCc>gAc	p.A1905D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1905					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A1905D(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGTCCTGGGCATTGGCATC	0.567			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	kidney(1)											69.0	63.0	65.0					1																	120462002		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5714C>A	1.37:g.120462002G>T	ENSP00000256646:p.Ala1905Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371562	0.82573	.	.	ENSG00000134250	ENST00000256646	T	0.67171	-0.25	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.37577	U	0.002029	T	0.75525	0.3861	M	0.81341	2.54	0.54753	D	0.999984	D	0.61080	0.989	P	0.54629	0.757	T	0.78819	-0.2054	10	0.66056	D	0.02	.	18.6855	0.91562	0.0:0.0:1.0:0.0	.	1905	Q04721	NOTC2_HUMAN	D	1905	ENSP00000256646:A1905D	ENSP00000256646:A1905D	A	-	2	0	NOTCH2	120263525	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.174000	0.58256	2.674000	0.91012	0.655000	0.94253	GCC		0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36340513	36340513	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:36340513A>C	ENST00000378910.5	-	6	650	c.651T>G	c.(649-651)tgT>tgG	p.C217W	NPHS1_ENST00000353632.6_Missense_Mutation_p.C217W|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	217	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.C217W(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGACGCCTCACAGACCAGCA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											77.0	75.0	76.0					19																	36340513		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.651T>G	19.37:g.36340513A>C	ENSP00000368190:p.Cys217Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155184	0.57259	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.99445	-5.91;-5.91	5.53	-0.0682	0.13757	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.098510	0.64402	D	0.000001	D	0.99055	0.9676	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98406	1.0570	10	0.87932	D	0	-4.9108	9.2423	0.37504	0.5294:0.0:0.4706:0.0	.	217	O60500	NPHN_HUMAN	W	217	ENSP00000368190:C217W;ENSP00000343634:C217W	ENSP00000343634:C217W	C	-	3	2	NPHS1	41032353	0.752000	0.28338	0.993000	0.49108	0.788000	0.44548	0.340000	0.19892	0.068000	0.16574	0.482000	0.46254	TGT		0.542	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			
NR3C2	4306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	149356735	149356735	+	Silent	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:149356735T>G	ENST00000358102.3	-	2	1640	c.1278A>C	c.(1276-1278)ccA>ccC	p.P426P	NR3C2_ENST00000512865.1_Silent_p.P426P|NR3C2_ENST00000355292.3_Silent_p.P426P|NR3C2_ENST00000511528.1_Silent_p.P426P|NR3C2_ENST00000344721.4_Silent_p.P426P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	426	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P426P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTTGCTTTATTGGTACTGAGA	0.383																																					Melanoma(27;428 957 40335 51025 51111)												1	Substitution - coding silent(1)	kidney(1)											82.0	83.0	83.0					4																	149356735		2203	4300	6503	SO:0001819	synonymous_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1278A>C	4.37:g.149356735T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																				0.383	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			
OGFOD1	55239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56485531	56485531	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:56485531G>C	ENST00000566157.1	+	1	130	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R	OGFOD1_ENST00000568397.1_Missense_Mutation_p.G3R|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	3					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)	p.G3R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAGATGAATGGGAAGCGGCC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											88.0	103.0	98.0					16																	56485531		2198	4300	6498	SO:0001583	missense	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.7G>C	16.37:g.56485531G>C	ENSP00000457258:p.Gly3Arg	Somatic		WXS	Illumina HiSeq	Phase_I	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822102	0.71028	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.28	5.28	0.74379	.	0.333224	0.33092	N	0.005299	T	0.47820	0.1466	L	0.47716	1.5	0.40206	D	0.977576	P	0.35383	0.498	B	0.34242	0.178	T	0.43845	-0.9366	9	0.07030	T	0.85	-1.2382	15.9409	0.79754	0.0:0.0:1.0:0.0	.	3	Q8N543	OGFD1_HUMAN	R	3	.	ENSP00000337196:G3R	G	+	1	0	OGFOD1	55043032	0.999000	0.42202	0.801000	0.32222	0.664000	0.39144	5.450000	0.66626	2.758000	0.94735	0.563000	0.77884	GGG		0.572	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3		NM_018233	
OGG1	4968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9792055	9792055	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:9792055C>A	ENST00000344629.7	+	1	428	c.85C>A	c.(85-87)Cct>Act	p.P29T	OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000302036.7_Missense_Mutation_p.P29T|OGG1_ENST00000302003.7_Missense_Mutation_p.P29T|OGG1_ENST00000449570.2_Missense_Mutation_p.P29T|OGG1_ENST00000339511.5_Missense_Mutation_p.P29T|OGG1_ENST00000302008.8_Missense_Mutation_p.P29T|OGG1_ENST00000383826.5_Missense_Mutation_p.P29T|OGG1_ENST00000349503.5_Missense_Mutation_p.P29T			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	29					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.P29T(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CATCCCGTGCCCTCGCTCTGA	0.652								Base excision repair (BER), DNA glycosylases																																									4	Substitution - Missense(4)	kidney(4)											58.0	52.0	54.0					3																	9792055		2203	4300	6503	SO:0001583	missense	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.85C>A	3.37:g.9792055C>A	ENSP00000342851:p.Pro29Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.506195|2.506195	0.44558|0.44558	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000441094|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	.|T;T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.85|5.85	4.98|4.98	0.66077|0.66077	.|8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.433678|0.433678	0.28927|0.28927	N|N	0.013696|0.013696	T|T	0.42944|0.42944	0.1225|0.1225	L|L	0.37507|0.37507	1.11|1.11	0.35662|0.35662	D|D	0.812653|0.812653	.|B;B;B;B;B;B;B;B	.|0.33073	.|0.009;0.396;0.063;0.007;0.007;0.023;0.002;0.013	.|B;B;B;B;B;B;B;B	.|0.28139	.|0.008;0.086;0.025;0.025;0.026;0.025;0.014;0.009	T|T	0.55528|0.55528	-0.8127|-0.8127	6|10	.|0.52906	.|T	.|0.07	-1.5595|-1.5595	14.4973|14.4973	0.67698|0.67698	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	.|29;29;29;29;29;29;29;29	.|E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	H|T	9|29	.|ENSP00000305584:P29T;ENSP00000342851:P29T;ENSP00000306561:P29T;ENSP00000303132:P29T;ENSP00000345520:P29T;ENSP00000403598:P29T;ENSP00000305527:P29T;ENSP00000373337:P29T	.|ENSP00000305584:P29T	P|P	+|+	2|1	0|0	OGG1|OGG1	9767055|9767055	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.403000|0.403000	0.30841|0.30841	1.078000|1.078000	0.30754|0.30754	1.467000|1.467000	0.48044|0.48044	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.652	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2		NM_016821	
OR52L1	338751	broad.mit.edu;hgsc.bcm.edu	37	11	6007950	6007950	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:6007950G>A	ENST00000332249.4	-	1	265	c.211C>T	c.(211-213)Cca>Tca	p.P71S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56S(1)|p.P71S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAAGGATGGGTCCATCCAG	0.527																																					Melanoma(121;653 1666 10547 22796 51255)												2	Substitution - Missense(2)	kidney(2)											81.0	84.0	83.0					11																	6007950		2080	4224	6304	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.211C>T	11.37:g.6007950G>A	ENSP00000330338:p.Pro71Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.286671	0.00248	.	.	ENSG00000183313	ENST00000332249	T	0.02552	4.25	3.64	-6.66	0.01789	GPCR, rhodopsin-like superfamily (1);	0.675472	0.12229	N	0.487625	T	0.01421	0.0046	N	0.16233	0.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.15952	T	0.53	.	6.4178	0.21725	0.6529:0.0:0.1516:0.1956	.	71	Q8NGH7	O52L1_HUMAN	S	71	ENSP00000330338:P71S	ENSP00000330338:P71S	P	-	1	0	OR52L1	5964526	0.000000	0.05858	0.030000	0.17652	0.077000	0.17291	-0.541000	0.06099	-0.834000	0.04239	0.313000	0.20887	CCA		0.527	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1		NM_001005173	
SLC51A	200931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195954575	195954575	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:195954575G>A	ENST00000296327.5	+	4	538	c.329G>A	c.(328-330)cGt>cAt	p.R110H		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	110					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.R110H(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGATCCCTCGTTCCCTGGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											255.0	191.0	213.0					3																	195954575		2203	4300	6503	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.329G>A	3.37:g.195954575G>A	ENSP00000296327:p.Arg110His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.850134|4.850134	0.91277|0.91277	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000296327|ENST00000428985	T|.	0.43688|.	0.94|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.48286|.	D|.	0.000200|.	T|T	0.77611|0.77611	0.4156|0.4156	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.65773|.	0.938|.	T|T	0.77490|0.77490	-0.2568|-0.2568	10|5	0.62326|.	D|.	0.03|.	.|.	18.1615|18.1615	0.89709|0.89709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	110|.	Q86UW1|.	OSTA_HUMAN|.	H|I	110|123	ENSP00000296327:R110H|.	ENSP00000296327:R110H|.	R|V	+|+	2|1	0|0	AC069257.9|AC069257.9	197438972|197438972	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.947000|0.947000	0.59692|0.59692	6.137000|6.137000	0.71710|0.71710	2.768000|2.768000	0.95171|0.95171	0.609000|0.609000	0.83330|0.83330	CGT|GTT		0.652	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1		NM_152672	
PAPPA	5069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	118982390	118982390	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:118982390A>T	ENST00000328252.3	+	5	2462	c.2093A>T	c.(2092-2094)gAt>gTt	p.D698V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	698					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D698V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACCTATAGATGGCCATTTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											153.0	140.0	145.0					9																	118982390		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2093A>T	9.37:g.118982390A>T	ENSP00000330658:p.Asp698Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754816	0.49362	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01918	4.56	5.75	5.75	0.90469	.	0.148136	0.64402	D	0.000010	T	0.08626	0.0214	L	0.51422	1.61	0.80722	D	1	D;D	0.62365	0.991;0.969	P;P	0.61800	0.894;0.504	T	0.03077	-1.1075	10	0.62326	D	0.03	-20.833	16.0663	0.80878	1.0:0.0:0.0:0.0	.	142;698	E7EMD3;Q13219	.;PAPP1_HUMAN	V	698;142	ENSP00000330658:D698V	ENSP00000330658:D698V	D	+	2	0	PAPPA	118022211	1.000000	0.71417	0.935000	0.37517	0.954000	0.61252	5.753000	0.68736	2.201000	0.70794	0.533000	0.62120	GAT		0.557	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52651349	52651353	+	Frame_Shift_Del	DEL	CACCA	CACCA	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	CACCA	CACCA	CACCA	-	CACCA	CACCA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:52651349_52651353delCACCA	ENST00000296302.7	-	14	1744_1748	c.1743_1747delTGGTG	c.(1741-1749)gctggtgaafs	p.GE582fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.GE550fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.GE597fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.GE597fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.GE582fs			Q86U86	PB1_HUMAN	polybromo 1	582	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTCCCTCTTCACCAGCATATTTGT	0.434			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1743_1747delTGGTG	3.37:g.52651349_52651353delCACCA	ENSP00000296302:p.Gly582fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.434	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH11X	27328	broad.mit.edu;hgsc.bcm.edu	37	X	91873325	91873325	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:91873325C>A	ENST00000373094.1	+	7	4275	c.3430C>A	c.(3430-3432)Ctc>Atc	p.L1144I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.L1107I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L1134I|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L1126I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L1107I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L1136I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1144					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1144I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCAAGAATGTCTCATCTATGG	0.468																																					NSCLC(38;925 1092 2571 38200 45895)												1	Substitution - Missense(1)	kidney(1)											39.0	35.0	36.0					X																	91873325		2203	4297	6500	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3430C>A	X.37:g.91873325C>A	ENSP00000362186:p.Leu1144Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203115	0.58234	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52983	0.66;0.67;0.64;0.66;0.69;0.64	4.63	3.53	0.40419	.	0.000000	0.35151	U	0.003410	T	0.42765	0.1217	L	0.43152	1.355	0.26843	N	0.968325	P;P;P;P;P	0.42735	0.778;0.778;0.778;0.778;0.788	B;B;B;B;B	0.43536	0.423;0.423;0.423;0.423;0.243	T	0.38908	-0.9639	10	0.49607	T	0.09	.	11.7924	0.52078	0.0:0.8909:0.0:0.1091	.	1107;1126;1136;1134;1144	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1144;1134;1107;1126;1136;1144;1107	ENSP00000362186:L1144I;ENSP00000362189:L1134I;ENSP00000362180:L1107I;ENSP00000355105:L1126I;ENSP00000384758:L1136I;ENSP00000298274:L1107I	ENSP00000298274:L1107I	L	+	1	0	PCDH11X	91759981	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.657000	0.46724	1.873000	0.54277	0.466000	0.42574	CTC		0.468	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1		NM_032969	
PDIA2	64714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	336870	336870	+	Silent	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:336870T>A	ENST00000219406.6	+	10	1476	c.1458T>A	c.(1456-1458)acT>acA	p.T486T	PDIA2_ENST00000404312.1_Silent_p.T483T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	486	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.T486T(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCTGGAGACTTTCTCCAAGT	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											13.0	15.0	14.0					16																	336870		1858	4078	5936	SO:0001819	synonymous_variant	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1458T>A	16.37:g.336870T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1																																																																																				0.647	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3		NM_006849	
PMP22	5376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15142905	15142905	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:15142905T>C	ENST00000395938.2	-	4	396	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	snoU13_ENST00000458745.1_RNA|PMP22_ENST00000395936.1_Missense_Mutation_p.T68A|PMP22_ENST00000426385.3_Missense_Mutation_p.T68A|PMP22_ENST00000312280.3_Missense_Mutation_p.T68A|PMP22_ENST00000494511.1_Missense_Mutation_p.H8R	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	68					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T68A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGGATCATGGTGGCCTGGACA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											89.0	66.0	74.0					17																	15142905		2203	4300	6503	SO:0001583	missense	5376			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.202A>G	17.37:g.15142905T>C	ENSP00000379269:p.Thr68Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879951	0.33162	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.61	5.61	0.85477	.	0.248699	0.40908	D	0.000985	D	0.90397	0.6994	M	0.74647	2.275	0.30734	N	0.746946	P	0.44090	0.826	P	0.47603	0.551	D	0.90653	0.4584	10	0.62326	D	0.03	-63.2727	11.8054	0.52152	0.1313:0.0:0.0:0.8687	.	68	Q01453	PMP22_HUMAN	A	68	ENSP00000379269:T68A;ENSP00000308937:T68A;ENSP00000409824:T68A;ENSP00000379268:T68A	ENSP00000308937:T68A	T	-	1	0	PMP22	15083630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.207000	0.42788	2.261000	0.74972	0.533000	0.62120	ACC		0.562	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1		NM_000304	
POLQ	10721	broad.mit.edu	37	3	121263752	121263752	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:121263752T>C	ENST00000264233.5	-	2	293	c.165A>G	c.(163-165)ggA>ggG	p.G55G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	55					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.G188G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTGCATTCTCCTTTTAGGA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												1	Substitution - coding silent(1)	kidney(1)											63.0	61.0	61.0					3																	121263752		2203	4300	6503	SO:0001630	splice_region_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.164-1A>G	3.37:g.121263752T>C		Somatic		WXS	Illumina GAIIx	Phase_I	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420	Silent
PRDM12	59335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133542139	133542139	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:133542139C>T	ENST00000253008.2	+	2	428	c.368C>T	c.(367-369)gCc>gTc	p.A123V		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A123V(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CGCGTGATCGCCCCGGAGCAC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											67.0	72.0	71.0					9																	133542139		2203	4300	6503	SO:0001583	missense	59335			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.368C>T	9.37:g.133542139C>T	ENSP00000253008:p.Ala123Val	Somatic		WXS	Illumina HiSeq	Phase_I	A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085069	0.76642	.	.	ENSG00000130711	ENST00000253008	T	0.72725	-0.68	5.31	5.31	0.75309	SET domain (2);	0.056468	0.64402	D	0.000001	T	0.66336	0.2779	L	0.52905	1.665	0.45930	D	0.998766	B	0.13594	0.008	B	0.04013	0.001	T	0.61589	-0.7032	10	0.17832	T	0.49	-25.7551	17.9465	0.89040	0.0:1.0:0.0:0.0	.	123	Q9H4Q4	PRD12_HUMAN	V	123	ENSP00000253008:A123V	ENSP00000253008:A123V	A	+	2	0	PRDM12	132531960	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.210000	0.77924	2.483000	0.83821	0.491000	0.48974	GCC		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1		NM_021619	
PRTG	283659	hgsc.bcm.edu;ucsc.edu	37	15	55971529	55971529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:55971529delT	ENST00000389286.4	-	7	1135	c.1088delA	c.(1087-1089)aatfs	p.N363fs	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTCCTTCCATTTTTCAACCA	0.398																																																	0													118.0	109.0	112.0					15																	55971529		1837	4091	5928	SO:0001589	frameshift_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1088delA	15.37:g.55971529delT	ENSP00000373937:p.Asn363fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000389286.4	37	CCDS42040.1																																																																																				0.398	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814	
PTK7	5754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43107181	43107181	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:43107181G>T	ENST00000230419.4	+	10	1757	c.1536G>T	c.(1534-1536)caG>caT	p.Q512H	PTK7_ENST00000481273.1_Missense_Mutation_p.Q520H|PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.Q512H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	512	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q512H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCACAGCAGTGCATGGAGT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											71.0	70.0	70.0					6																	43107181		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1536G>T	6.37:g.43107181G>T	ENSP00000230419:p.Gln512His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867677	0.72065	.	.	ENSG00000112655	ENST00000230419;ENST00000352931;ENST00000481273	T;T;T	0.67698	-0.28;-0.28;-0.28	5.44	1.67	0.24075	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.39085	1.19	0.58432	D	0.99999	P;D;D	0.89917	0.8;1.0;1.0	P;D;D	0.77557	0.474;0.987;0.99	T	0.58393	-0.7644	10	0.37606	T	0.19	.	10.2984	0.43637	0.2687:0.0:0.7313:0.0	.	520;512;512	E9PFZ5;Q13308-4;Q13308	.;.;PTK7_HUMAN	H	512;512;520	ENSP00000230419:Q512H;ENSP00000326029:Q512H;ENSP00000418754:Q520H	ENSP00000230418:Q512H	Q	+	3	2	PTK7	43215159	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.932000	0.48940	0.021000	0.15133	-0.229000	0.12294	CAG		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			
PTPN18	26469	hgsc.bcm.edu;ucsc.edu	37	2	131128292	131128292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:131128292delC	ENST00000175756.5	+	10	872	c.771delC	c.(769-771)gacfs	p.D257fs	PTPN18_ENST00000347849.3_Frame_Shift_Del_p.D150fs	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	257	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCCCACCTGACTTCAGTCTCT	0.572																																																	0													136.0	117.0	123.0					2																	131128292		2203	4300	6503	SO:0001589	frameshift_variant	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.771delC	2.37:g.131128292delC	ENSP00000175756:p.Asp257fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1E6|Q53P42	Frame_Shift_Del	DEL	ENST00000175756.5	37	CCDS2161.1																																																																																				0.572	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			
PTPN3	5774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	112172526	112172526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:112172526G>A	ENST00000374541.2	-	15	1587	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Q319*|PTPN3_ENST00000412145.1_Nonsense_Mutation_p.Q364*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Q341*|PTPN3_ENST00000394827.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	495					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.Q495*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGTAGTACTGGCTGGCGTCC	0.587																																																	1	Substitution - Nonsense(1)	kidney(1)											82.0	88.0	86.0					9																	112172526		2203	4300	6503	SO:0001587	stop_gained	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1483C>T	9.37:g.112172526G>A	ENSP00000363667:p.Gln495*	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	56	25.379546	0.99965	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	.	.	.	5.67	5.67	0.87782	.	0.458825	0.25006	N	0.033872	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	19.7571	0.96298	0.0:0.0:1.0:0.0	.	.	.	.	X	495;364;319;495;341	.	ENSP00000262539:Q341X	Q	-	1	0	PTPN3	111212347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.845000	0.75394	2.668000	0.90789	0.563000	0.77884	CAG		0.587	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121650685	121650685	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr7:121650685C>G	ENST00000393386.2	+	12	1996	c.1585C>G	c.(1585-1587)Cac>Gac	p.H529D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H529D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	529					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H529D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGCCACCTCACACTGTGGA	0.408																																																	2	Substitution - Missense(2)	kidney(2)											80.0	77.0	78.0					7																	121650685		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1585C>G	7.37:g.121650685C>G	ENSP00000377047:p.His529Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	2.783	-0.253156	0.05829	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.41400	1.05;1.0	4.84	1.9	0.25705	.	1.071700	0.07213	N	0.859553	T	0.36936	0.0985	L	0.51422	1.61	0.09310	N	1	B;B	0.18610	0.0;0.029	B;B	0.14023	0.0;0.01	T	0.31503	-0.9941	10	0.18710	T	0.47	.	10.2449	0.43334	0.0:0.5444:0.3817:0.0739	.	529;529	C9JFM0;P23471	.;PTPRZ_HUMAN	D	529	ENSP00000377047:H529D;ENSP00000410000:H529D	ENSP00000377047:H529D	H	+	1	0	PTPRZ1	121437921	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.717000	0.25851	0.280000	0.22209	0.655000	0.94253	CAC		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32955024	32955024	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:32955024C>T	ENST00000399302.2	+	4	2168	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	QSER1_ENST00000527788.1_Silent_p.I372I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	611								p.I611I(2)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGAGTGTAATCAGAAGTAATT	0.383																																																	2	Substitution - coding silent(2)	breast(1)|kidney(1)											97.0	94.0	95.0					11																	32955024		1866	4094	5960	SO:0001819	synonymous_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1833C>T	11.37:g.32955024C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	CCDS41631.1																																																																																				0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774	
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41022091	41022091	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:41022091A>T	ENST00000267868.3	+	9	1083	c.815A>T	c.(814-816)cAa>cTa	p.Q272L	RAD51_ENST00000532743.1_Missense_Mutation_p.Q273L|RAD51_ENST00000423169.2_Intron|RAD51_ENST00000530766.1_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.Q273L|RAD51_ENST00000557850.1_Missense_Mutation_p.Q175L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	272					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q272L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GTGGTAGCTCAAGTGGATGGA	0.448								Homologous recombination																																									1	Substitution - Missense(1)	kidney(1)											132.0	113.0	120.0					15																	41022091		2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.815A>T	15.37:g.41022091A>T	ENSP00000267868:p.Gln272Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684870	0.88639	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.42900	0.96;0.96;0.96	5.03	5.03	0.67393	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.109676	0.64402	D	0.000005	T	0.58524	0.2128	M	0.84082	2.675	0.80722	D	1	P;P	0.41102	0.738;0.585	P;B	0.48770	0.589;0.405	T	0.65721	-0.6099	10	0.72032	D	0.01	-6.9135	14.9228	0.70854	1.0:0.0:0.0:0.0	.	273;272	Q6ZNA8;Q06609	.;RAD51_HUMAN	L	175;272;273;273	ENSP00000267868:Q272L;ENSP00000433924:Q273L;ENSP00000372088:Q273L	ENSP00000267868:Q272L	Q	+	2	0	RAD51	38809383	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.925000	0.92832	2.106000	0.64143	0.460000	0.39030	CAA		0.448	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487	
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73657711	73657711	+	Silent	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:73657711A>T	ENST00000317905.5	-	5	1008	c.849T>A	c.(847-849)ggT>ggA	p.G283G	RECQL5_ENST00000423245.2_Silent_p.G256G|RECQL5_ENST00000420326.2_Silent_p.G283G|RECQL5_ENST00000340830.5_Silent_p.G283G|RECQL5_ENST00000584999.1_Silent_p.G283G	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.G256G(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCGTTCACACCCCTGCAGC	0.537								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	kidney(1)											97.0	90.0	92.0					17																	73657711		2203	4300	6503	SO:0001819	synonymous_variant	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.849T>A	17.37:g.73657711A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	CCDS42380.1																																																																																				0.537	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	
RIMS4	140730	broad.mit.edu;hgsc.bcm.edu	37	20	43386410	43386410	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr20:43386410C>T	ENST00000372851.3	-	4	418	c.352G>A	c.(352-354)Gat>Aat	p.D118N	RIMS4_ENST00000541604.2_Missense_Mutation_p.D119N	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	118	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.D118N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATCTCCACATCCCCTGGAAGA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											90.0	73.0	79.0					20																	43386410		2203	4300	6503	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.352G>A	20.37:g.43386410C>T	ENSP00000361942:p.Asp118Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349420	0.95830	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.22539	1.95;1.96	5.91	5.91	0.95273	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.78801	2.425	0.80722	D	1	P;D	0.53462	0.918;0.96	P;P	0.57371	0.783;0.819	T	0.42682	-0.9437	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	119;118	E1P613;Q9H426	.;RIMS4_HUMAN	N	118;119	ENSP00000361942:D118N;ENSP00000439287:D119N	ENSP00000361942:D118N	D	-	1	0	RIMS4	42819824	1.000000	0.71417	0.995000	0.50966	0.520000	0.34377	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GAT		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2		NM_182970	
RPH3AL	9501	broad.mit.edu;hgsc.bcm.edu	37	17	169255	169255	+	Missense_Mutation	SNP	C	C	T	rs532892676		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:169255C>T	ENST00000331302.7	-	5	614	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	RP11-1260E13.1_ENST00000570501.1_RNA|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000536489.2_Missense_Mutation_p.G103S|RPH3AL_ENST00000323434.8_Missense_Mutation_p.G103S	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	103	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)	p.G103S(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCCAGGAAGCCCAGCACCTCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											95.0	83.0	87.0					17																	169255		2196	4297	6493	SO:0001583	missense	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.307G>A	17.37:g.169255C>T	ENSP00000328977:p.Gly103Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374020	0.95923	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	T;T;T	0.76839	-1.05;-1.05;-1.05	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.68952	2.095	0.53688	D	0.999973	P;D;D	0.69078	0.941;0.997;0.977	P;D;P	0.64776	0.77;0.929;0.83	D	0.86816	0.2001	10	0.59425	D	0.04	-36.017	18.9865	0.92773	0.0:1.0:0.0:0.0	.	103;103;103	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	S	103	ENSP00000319210:G103S;ENSP00000328977:G103S;ENSP00000438224:G103S	ENSP00000319210:G103S	G	-	1	0	RPH3AL	169255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.938000	0.63519	2.718000	0.92993	0.632000	0.83419	GGC		0.642	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2		NM_006987	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu	37	1	237586481	237586481	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:237586481A>T	ENST00000366574.2	+	12	1255	c.938A>T	c.(937-939)aAc>aTc	p.N313I	RYR2_ENST00000542537.1_Missense_Mutation_p.N297I|RYR2_ENST00000360064.6_Missense_Mutation_p.N311I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	313	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N311I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGACAAAAACCTTCTACTC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											128.0	124.0	125.0					1																	237586481		1903	4117	6020	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.938A>T	1.37:g.237586481A>T	ENSP00000355533:p.Asn313Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736449	0.49045	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91011	-2.77;-2.77;-2.77	5.5	-5.59	0.02505	MIR motif (2);MIR (2);	0.569242	0.17221	N	0.182337	T	0.79534	0.4462	N	0.14661	0.345	0.47737	D	0.999507	B	0.21381	0.055	B	0.23150	0.044	T	0.52381	-0.8583	10	0.72032	D	0.01	-4.8077	12.3769	0.55285	0.1613:0.1169:0.7218:0.0	.	313	Q92736	RYR2_HUMAN	I	313;311;297	ENSP00000355533:N313I;ENSP00000353174:N311I;ENSP00000443798:N297I	ENSP00000353174:N311I	N	+	2	0	RYR2	235653104	0.977000	0.34250	0.728000	0.30774	0.995000	0.86356	0.229000	0.17833	-1.387000	0.02095	-0.332000	0.08345	AAC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SART3	9733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108929135	108929136	+	Splice_Site	INS	-	-	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:108929135_108929136insT	ENST00000228284.3	-	12	1789_1790	c.1555_1556insA	c.(1555-1557)aga>aAga	p.R519fs	SART3_ENST00000431469.2_Splice_Site_p.R483fs	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	519					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GATCAGTTACCTTTCCAGGTTG	0.52									Porokeratosis																																								0																																										SO:0001630	splice_region_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1556+1->A	12.37:g.108929138_108929138dupT		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Frame_Shift_Ins	INS	ENST00000228284.3	37	CCDS9117.1																																																																																				0.520	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			Frame_Shift_Ins
SBF1	6305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50903133	50903133	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr22:50903133A>G	ENST00000390679.3	-	14	1650	c.1466T>C	c.(1465-1467)gTa>gCa	p.V489A	SBF1_ENST00000348911.6_Missense_Mutation_p.V490A|SBF1_ENST00000380817.3_Missense_Mutation_p.V489A			O95248	MTMR5_HUMAN	SET binding factor 1	489					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V489A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCTCTGTACCTTGTGCAT	0.701																																																	2	Substitution - Missense(2)	kidney(2)											58.0	66.0	64.0					22																	50903133		2043	4176	6219	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1466T>C	22.37:g.50903133A>G	ENSP00000375097:p.Val489Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.083980	0.76642	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.88509	-2.38;-2.39;-2.39	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.90930	0.7149	M	0.70275	2.135	0.80722	D	1	D;D;P	0.55385	0.969;0.971;0.835	P;P;B	0.52514	0.701;0.654;0.435	D	0.91946	0.5567	10	0.87932	D	0	.	12.7759	0.57448	1.0:0.0:0.0:0.0	.	489;490;489	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	A	489;490;500;499;489	ENSP00000370196:V489A;ENSP00000252027:V490A;ENSP00000375097:V489A	ENSP00000336522:V499A	V	-	2	0	SBF1	49249999	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.789000	0.91839	1.691000	0.51100	0.260000	0.18958	GTA		0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				
KIAA1731	85459	broad.mit.edu;hgsc.bcm.edu	37	11	93454688	93454688	+	Intron	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:93454688G>C	ENST00000325212.6	+	19	6012				KIAA1731_ENST00000344196.4_Intron|KIAA1731_ENST00000411936.1_Intron|KIAA1731_ENST00000531700.1_Intron|Y_RNA_ENST00000363005.1_RNA|SCARNA9_ENST00000364329.1_RNA|SCARNA9_ENST00000362805.1_RNA|SCARNA9_ENST00000530422.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCTTTCTGAGATCTGCTTTT	0.368																																																	0													121.0	112.0	115.0					11																	93454688		874	1989	2863	SO:0001627	intron_variant	619383			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5850+110G>C	11.37:g.93454688G>C		Somatic		WXS	Illumina HiSeq	Phase_I	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	SNP	ENST00000325212.6	37	CCDS44708.1																																																																																				0.368	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1		NM_033395	
SCN11A	11280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38962724	38962724	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:38962724G>T	ENST00000302328.3	-	6	933	c.735C>A	c.(733-735)gcC>gcA	p.A245A	SCN11A_ENST00000456224.3_Silent_p.A245A|SCN11A_ENST00000450244.1_Silent_p.A245A|SCN11A_ENST00000444237.2_Silent_p.A245A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	245					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A245A(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCGTAGCAAGGCCCCCACGA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	99.0	100.0					3																	38962724		2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.735C>A	3.37:g.38962724G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.542	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139	
SLC16A4	9122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110906399	110906399	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:110906399T>C	ENST00000369779.4	-	9	1702	c.1453A>G	c.(1453-1455)Agt>Ggt	p.S485G	SLC16A4_ENST00000437429.2_Silent_p.T381T|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S423G|SLC16A4_ENST00000369781.4_Missense_Mutation_p.S317G|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S437G	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	485					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.S485G(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAGGTCAGACTGTTTTTCCAT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											93.0	90.0	91.0					1																	110906399		2203	4300	6503	SO:0001583	missense	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1453A>G	1.37:g.110906399T>C	ENSP00000358794:p.Ser485Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972475	0.34848	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000541986	T;T;T;T	0.59638	2.5;2.37;0.25;2.49	4.88	1.04	0.20106	Major facilitator superfamily domain (1);	2.733540	0.01739	U	0.029282	T	0.14527	0.0351	N	0.04959	-0.14	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.004;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.005;0.006;0.003;0.002;0.005	T	0.07328	-1.0778	10	0.29301	T	0.29	.	4.7607	0.13106	0.2913:0.0857:0.0:0.623	.	423;437;485;317;485	B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;MOT5_HUMAN	G	485;437;317;423	ENSP00000358794:S485G;ENSP00000432495:S437G;ENSP00000358796:S317G;ENSP00000446087:S423G	ENSP00000358794:S485G	S	-	1	0	SLC16A4	110707922	1.000000	0.71417	0.049000	0.19019	0.861000	0.49209	1.562000	0.36353	0.260000	0.21731	0.523000	0.50628	AGT		0.378	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3		NM_004696	
SEMA4A	64218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156127886	156127886	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:156127886A>G	ENST00000368285.3	+	4	593	c.326A>G	c.(325-327)aAa>aGa	p.K109R	SEMA4A_ENST00000355014.2_Missense_Mutation_p.K109R|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K109R|SEMA4A_ENST00000368286.2_Missense_Mutation_p.K10R|SEMA4A_ENST00000368284.1_Missense_Mutation_p.K10R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K109R(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTGACAGAAAAAAGAGTGAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											95.0	84.0	88.0					1																	156127886		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.326A>G	1.37:g.156127886A>G	ENSP00000357268:p.Lys109Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523242	0.64747	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.176866	0.49305	D	0.000143	T	0.13670	0.0331	L	0.37750	1.13	0.32491	N	0.540217	P;P	0.46395	0.577;0.877	B;P	0.46885	0.288;0.53	T	0.07214	-1.0784	10	0.22706	T	0.39	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	10;109	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	R	109;10;109;109;10;71;71;10;109;109	ENSP00000401391:K109R;ENSP00000399230:K10R;ENSP00000347117:K109R;ENSP00000357268:K109R;ENSP00000357267:K10R;ENSP00000357269:K10R;ENSP00000392865:K109R;ENSP00000357265:K109R	ENSP00000347117:K109R	K	+	2	0	SEMA4A	154394510	1.000000	0.71417	0.708000	0.30435	0.684000	0.39900	7.064000	0.76721	2.104000	0.64026	0.454000	0.30748	AAA		0.517	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367	
SMC1A	8243	hgsc.bcm.edu;ucsc.edu	37	X	53430820	53430820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:53430820delT	ENST00000322213.4	-	14	2329	c.2202delA	c.(2200-2202)aaafs	p.K734fs		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	734					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCAGCTTGGATTTTTCCTACA	0.493																																																	0													100.0	90.0	93.0					X																	53430820		2203	4300	6503	SO:0001589	frameshift_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2202delA	X.37:g.53430820delT	ENSP00000323421:p.Lys734fs	Somatic		WXS	Illumina HiSeq	Phase_I	O14995|Q16351|Q2M228	Frame_Shift_Del	DEL	ENST00000322213.4	37	CCDS14352.1																																																																																				0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		NM_006306	
SNW1	22938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	78184796	78184796	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:78184796A>G	ENST00000261531.7	-	13	1388	c.1326T>C	c.(1324-1326)gaT>gaC	p.D442D	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000555761.1_Silent_p.D442D|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.D280D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	442					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D442D(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCTGGGCCATATCTTTACCAC	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	94.0	96.0					14																	78184796		2203	4300	6503	SO:0001819	synonymous_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1326T>C	14.37:g.78184796A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	CCDS9867.1																																																																																				0.418	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1		NM_012245	
ST6GAL2	84620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	107460175	107460175	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:107460175C>T	ENST00000409382.3	-	2	869	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G87S|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G87S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	87					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.G87S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGAAAGGAACCGGCTGGGTGG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											25.0	31.0	29.0					2																	107460175		2164	4246	6410	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.259G>A	2.37:g.107460175C>T	ENSP00000386942:p.Gly87Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377020	0.24857	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.29917	2.57;2.57;1.55	5.24	0.00909	0.14077	.	1.550760	0.03353	N	0.196434	T	0.25269	0.0614	L	0.38175	1.15	0.09310	N	1	B;B	0.23891	0.093;0.031	B;B	0.14578	0.011;0.005	T	0.18272	-1.0342	10	0.34782	T	0.22	-0.5611	7.842	0.29403	0.0:0.608:0.1102:0.2818	.	87;87	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	87	ENSP00000355273:G87S;ENSP00000386942:G87S;ENSP00000387332:G87S	ENSP00000355273:G87S	G	-	1	0	ST6GAL2	106826607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.091000	0.30915	-0.648000	0.05437	-1.119000	0.02030	GGT		0.642	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		NM_032528	
ST6GALNAC3	256435	hgsc.bcm.edu;ucsc.edu	37	1	77094481	77094482	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:77094481_77094482insA	ENST00000328299.3	+	5	1056_1057	c.908_909insA	c.(907-912)acattgfs	p.L304fs		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	304					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CCAAACTGGACATTGTCTTGAT	0.411																																																	0																																										SO:0001589	frameshift_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.909dupA	1.37:g.77094482_77094482dupA	ENSP00000329214:p.Leu304fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PCE0|Q6UX29|Q8N259	Frame_Shift_Ins	INS	ENST00000328299.3	37	CCDS672.1																																																																																				0.411	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1		NM_152996	
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70514054	70514054	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:70514054C>G	ENST00000260128.4	+	10	1768	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	SULF1_ENST00000419716.3_Missense_Mutation_p.P351A|SULF1_ENST00000402687.4_Missense_Mutation_p.P351A|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.P351A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	351					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P351A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGTGTAGAACCAGGATCAAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											345.0	301.0	316.0					8																	70514054		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1051C>G	8.37:g.70514054C>G	ENSP00000260128:p.Pro351Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	5.607	0.296765	0.10622	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.093125	0.85682	D	0.000000	D	0.90810	0.7114	N	0.11284	0.12	0.58432	D	0.999995	B	0.06786	0.001	B	0.11329	0.006	D	0.85951	0.1464	10	0.05833	T	0.94	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	351	Q8IWU6	SULF1_HUMAN	A	351	ENSP00000403040:P351A;ENSP00000260128:P351A;ENSP00000385704:P351A;ENSP00000390315:P351A	ENSP00000260128:P351A	P	+	1	0	SULF1	70676608	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.149000	0.50655	2.937000	0.99478	0.650000	0.86243	CCA		0.403	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170	
SULT2A1	6822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48385434	48385434	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:48385434A>G	ENST00000222002.3	-	3	518	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.L127L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CCAGACACCAAAACATCTCTG	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	73.0	73.0					19																	48385434		2203	4300	6503	SO:0001819	synonymous_variant	6822			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.379T>C	19.37:g.48385434A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000222002.3	37	CCDS12707.1																																																																																				0.338	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1		NM_003167	
TANC2	26115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61498351	61498351	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:61498351G>A	ENST00000424789.2	+	25	5012	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.D1680N	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1670					in utero embryonic development (GO:0001701)			p.D1680N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AATCGTAGGGGATGGAAGGCC	0.542																																																	2	Substitution - Missense(2)	kidney(2)											79.0	83.0	82.0					17																	61498351		2187	4287	6474	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5008G>A	17.37:g.61498351G>A	ENSP00000387593:p.Asp1670Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249416	0.80024	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71461	-0.57;-0.57	5.58	5.58	0.84498	.	0.060071	0.64402	D	0.000005	T	0.75708	0.3886	N	0.24115	0.695	0.54753	D	0.999987	D	0.63880	0.993	D	0.70935	0.971	T	0.77156	-0.2691	10	0.54805	T	0.06	.	18.124	0.89580	0.0:0.0:1.0:0.0	.	1670	Q9HCD6	TANC2_HUMAN	N	1680;1670	ENSP00000374171:D1680N;ENSP00000387593:D1670N	ENSP00000374171:D1680N	D	+	1	0	TANC2	58852083	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	8.894000	0.92506	2.797000	0.96272	0.561000	0.74099	GAT		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			
TECRL	253017	broad.mit.edu;hgsc.bcm.edu	37	4	65274893	65274893	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:65274893G>A	ENST00000381210.3	-	1	287	c.177C>T	c.(175-177)caC>caT	p.H59H	TECRL_ENST00000507440.1_Silent_p.H59H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	59					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.H59H(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAATCTCAAAGTGAGTCGTTT	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	64.0	65.0					4																	65274893		2203	4300	6503	SO:0001819	synonymous_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.177C>T	4.37:g.65274893G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4		NM_001010874	
TFE3	7030	broad.mit.edu	37	X	48900725	48900725	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:48900725C>A	ENST00000315869.7	-	1	287	c.28G>T	c.(28-30)Gat>Tat	p.D10Y		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	10					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)	p.D10Y(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTACGCCATCCCGAGCTGGT	0.721			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	2	Substitution - Missense(2)	kidney(2)											6.0	7.0	7.0					X																	48900725		2131	4139	6270	SO:0001583	missense	7030			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.28G>T	X.37:g.48900725C>A	ENSP00000314129:p.Asp10Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842623	0.51057	.	.	ENSG00000068323	ENST00000315869	T	0.17528	2.27	4.34	3.48	0.39840	.	0.229755	0.22442	N	0.060005	T	0.16171	0.0389	N	0.08118	0	0.32710	N	0.511696	D	0.55605	0.972	P	0.59643	0.861	T	0.16100	-1.0414	10	0.87932	D	0	-5.8924	7.2519	0.26154	0.0:0.8765:0.0:0.1235	.	10	P19532	TFE3_HUMAN	Y	10	ENSP00000314129:D10Y	ENSP00000314129:D10Y	D	-	1	0	TFE3	48787669	1.000000	0.71417	0.964000	0.40570	0.550000	0.35303	3.188000	0.50958	0.859000	0.35456	-0.435000	0.05868	GAT		0.721	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521	
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132351883	132351883	+	Silent	SNP	G	G	A	rs369336277		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552																																																	2	Substitution - coding silent(2)	kidney(2)											83.0	77.0	79.0					X																	132351883		2200	4298	6498	SO:0001819	synonymous_variant	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.405C>T	X.37:g.132351883G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	CCDS14636.2																																																																																				0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1		NM_016521	
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:83838940C>G	ENST00000302236.5	+	5	1626	c.1575C>G	c.(1573-1575)aaC>aaG	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											106.0	111.0	109.0					4																	83838940		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1575C>G	4.37:g.83838940C>G	ENSP00000305533:p.Asn525Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553178	0.13374	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC		0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1		NM_024672	
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19698767	19698767	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:19698767A>T	ENST00000284885.3	-	16	1936	c.1903T>A	c.(1903-1905)Tat>Aat	p.Y635N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	635						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y635N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCCAAGTGATAGCCAGTAGTA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											210.0	183.0	192.0					21																	19698767		2203	4300	6503	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1903T>A	21.37:g.19698767A>T	ENSP00000284885:p.Tyr635Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186420	0.57909	.	.	ENSG00000154646	ENST00000284885	D	0.87412	-2.25	5.27	5.27	0.74061	.	0.249952	0.35291	N	0.003303	D	0.90992	0.7167	M	0.72118	2.19	0.29737	N	0.837413	D	0.76494	0.999	D	0.67103	0.949	D	0.87438	0.2393	9	.	.	.	.	8.084	0.30760	0.909:0.0:0.091:0.0	.	635	P98073	ENTK_HUMAN	N	635	ENSP00000284885:Y635N	.	Y	-	1	0	TMPRSS15	18620638	0.969000	0.33509	0.981000	0.43875	0.936000	0.57629	2.862000	0.48388	2.110000	0.64415	0.528000	0.53228	TAT		0.418	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2		NM_002772	
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77435329	77435329	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:77435329T>G	ENST00000360774.1	-	9	1262	c.1025A>C	c.(1024-1026)cAg>cCg	p.Q342P	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q337P|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q337P|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q342P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	342					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q342P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTTTCACCTGAGGTCGCAG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											107.0	100.0	102.0					9																	77435329		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1025A>C	9.37:g.77435329T>G	ENSP00000354006:p.Gln342Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	4.098	0.016190	0.07959	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.37	2.68	0.31781	.	0.216858	0.47852	N	0.000220	T	0.34803	0.0910	L	0.56769	1.78	0.41687	D	0.989324	B;B;B;B	0.34264	0.001;0.001;0.015;0.446	B;B;B;B	0.37144	0.003;0.004;0.011;0.242	T	0.27054	-1.0085	10	0.66056	D	0.02	.	9.3779	0.38295	0.1266:0.0:0.1165:0.7568	.	342;342;342;337	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	P	342;342;342;342;337;337;342;5;5	ENSP00000354006:Q342P;ENSP00000407341:Q342P;ENSP00000366068:Q342P;ENSP00000366067:Q342P;ENSP00000396672:Q337P;ENSP00000354962:Q337P;ENSP00000366060:Q342P	ENSP00000309693:Q5P	Q	-	2	0	TRPM6	76625149	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.380000	0.52448	0.849000	0.35215	-0.316000	0.08728	CAG		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662	
TTC12	54970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113230094	113230094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:113230094G>T	ENST00000529221.1	+	17	1561	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	TTC12_ENST00000393020.1_Nonsense_Mutation_p.E486*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E486*|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E492*	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	486								p.E486*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGCCAGGTGTGAGGAGGATGT	0.478																																																	1	Substitution - Nonsense(1)	kidney(1)											263.0	222.0	236.0					11																	113230094		2201	4296	6497	SO:0001587	stop_gained	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1456G>T	11.37:g.113230094G>T	ENSP00000433757:p.Glu486*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5H9|Q9NWY3	Nonsense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	35	5.484889	0.96323	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	.	.	.	5.73	5.73	0.89815	.	1.298120	0.04968	N	0.463272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.8608	15.3967	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	486;486;486;492	.	ENSP00000315160:E486X	E	+	1	0	TTC12	112735304	1.000000	0.71417	0.999000	0.59377	0.593000	0.36681	2.750000	0.47500	2.700000	0.92200	0.655000	0.94253	GAG		0.478	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2		NM_017868	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:179490104C>T	ENST00000591111.1	-	191	39745	c.39521G>A	c.(39520-39522)gGa>gAa	p.G13174E	TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN_ENST00000589042.1_Missense_Mutation_p.G14815E|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13174	Ig-like 87.				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)	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353																																																	5	Substitution - Missense(5)	kidney(5)											203.0	193.0	196.0					2																	179490104		1831	4072	5903	SO:0001583	missense	7273			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.39521G>A	2.37:g.179490104C>T	ENSP00000465570:p.Gly13174Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.60	2.880766	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77096	0.4080	M	0.91038	3.17	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.72075	0.956;0.956;0.956;0.976	T	0.81095	-0.1088	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	5750;5875;5942;13174	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	12247;5750;5942;5875;5750	ENSP00000343764:G12247E;ENSP00000434586:G5750E;ENSP00000340554:G5942E;ENSP00000352154:G5875E	ENSP00000340554:G5942E	G	-	2	0	TTN	179198349	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.690000	0.68241	2.821000	0.97095	0.650000	0.86243	GGA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
KRT17P2	339241	broad.mit.edu	37	17	18333107	18333107	+	RNA	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:18333107G>C	ENST00000326333.8	+	0	929				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		AGCAGTATGAGAAGATGGCAG	0.622																																																	0																																												0					17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333107G>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000326333.8	37		.	.	.	.	.	.	.	.	.	.	G	6.917	0.538828	0.13250	.	.	ENSG00000186831	ENST00000300992	.	.	.	2.87	2.87	0.33458	.	0.000000	0.47852	D	0.000211	T	0.65523	0.2699	.	.	.	.	.	.	.	.	.	.	.	.	T	0.77517	-0.2558	5	0.87932	D	0	.	11.5376	0.50648	0.0:0.0:1.0:0.0	.	.	.	.	D	262	.	ENSP00000300992:E262D	E	+	3	2	AL353997.5	18273832	0.990000	0.36364	1.000000	0.80357	0.392000	0.30506	1.970000	0.40520	1.313000	0.45069	0.184000	0.17185	GAG		0.622	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446573.1		NG_002778	
LOC101929762	101929762	broad.mit.edu	37	4	120116717	120116717	+	Missense_Mutation	SNP	C	C	A	rs149257591	byFrequency	TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:120116717C>A	ENST00000326780.3	-	3	308	c.254G>T	c.(253-255)tGt>tTt	p.C85F	RP11-455G16.1_ENST00000515843.1_5'UTR														p.C85F(1)									TTTGCAATTACAGTCATCTGG	0.348																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0																														ENST00000326780.3:c.254G>T	4.37:g.120116717C>A	ENSP00000317768:p.Cys85Phe	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000326780.3	37		.	.	.	.	.	.	.	.	.	.	C	0.008	-1.910134	0.00508	.	.	ENSG00000178636	ENST00000326780	.	.	.	1.12	-2.24	0.06909	.	.	.	.	.	T	0.25082	0.0609	.	.	.	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	6	0.41790	T	0.15	.	4.4443	0.11589	0.0:0.4621:0.0:0.5379	.	85	E7EQP2	.	F	85	.	ENSP00000317768:C85F	C	-	2	0	RP11-455G16.1	120336165	0.512000	0.26186	0.993000	0.49108	0.446000	0.32137	-1.867000	0.01646	-0.571000	0.06014	-1.455000	0.01032	TGT		0.348	RP11-455G16.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	T	rs5030826		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:10183725C>T	ENST00000256474.2	+	1	1034	c.194C>T	c.(193-195)tCg>tTg	p.S65L	VHL_ENST00000345392.2_Missense_Mutation_p.S65L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>T	3.37:g.10183725C>T	ENSP00000256474:p.Ser65Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343095	0.82022	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99832	-7.02;-7.02	5.54	4.67	0.58626	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055860	0.85682	N	0.000000	D	0.99306	0.9757	M	0.83774	2.66	0.33373	D	0.573818	P;P	0.49961	0.93;0.815	B;B	0.35899	0.213;0.209	D	0.99620	1.0983	10	0.87932	D	0	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	.	65;65	P40337-2;P40337	.;VHL_HUMAN	L	65	ENSP00000256474:S65L;ENSP00000344757:S65L	ENSP00000256474:S65L	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
UROC1	131669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126216954	126216954	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:126216954C>T	ENST00000290868.2	-	14	1431	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	UROC1_ENST00000383579.3_Missense_Mutation_p.D520N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	460					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.D460N(1)|p.D520N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCGCCAGGTCCTGGGGGTCC	0.642																																																	2	Substitution - Missense(2)	kidney(2)											131.0	141.0	138.0					3																	126216954		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1378G>A	3.37:g.126216954C>T	ENSP00000290868:p.Asp460Asn	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496782	0.64186	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.66280	-0.2;-0.2	4.4	4.4	0.53042	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91403	0.5145	10	0.87932	D	0	-6.8169	14.4925	0.67660	0.0:1.0:0.0:0.0	.	520;460	E9PE13;Q96N76	.;HUTU_HUMAN	N	460;520	ENSP00000290868:D460N;ENSP00000373073:D520N	ENSP00000290868:D460N	D	-	1	0	UROC1	127699644	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.286000	0.78671	2.013000	0.59113	0.491000	0.48974	GAC		0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2		NM_144639	
WDR72	256764	hgsc.bcm.edu;ucsc.edu	37	15	53907894	53907895	+	Frame_Shift_Ins	INS	-	-	TTCAT			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:53907894_53907895insTTCAT	ENST00000396328.1	-	15	2747_2748	c.2508_2509insATGAA	c.(2506-2511)gaagatfs	p.D837fs	WDR72_ENST00000360509.5_Frame_Shift_Ins_p.D837fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.D834fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.D847fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	837										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGAAATTATCTTCATTCAAAG	0.342																																																	0																																										SO:0001589	frameshift_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2504_2508dupATGAA	15.37:g.53907895_53907899dupTTCAT	ENSP00000379619:p.Asp837fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3I3|Q8N8X2	Frame_Shift_Ins	INS	ENST00000396328.1	37	CCDS10151.1																																																																																				0.342	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758	
WNK1	65125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	862733	862733	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:862733T>A	ENST00000315939.6	+	1	645	c.2T>A	c.(1-3)aTg>aAg	p.M1K	WNK1_ENST00000447667.2_Start_Codon_SNP_p.M1K|WNK1_ENST00000535572.1_Start_Codon_SNP_p.M1K|WNK1_ENST00000530271.2_Start_Codon_SNP_p.M1K|WNK1_ENST00000537687.1_Start_Codon_SNP_p.M1K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.M1K(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAACCGACCATGTCTGGCGGC	0.682																																					Colon(19;451 567 6672 12618 28860)												2	Substitution - Missense(2)	kidney(2)											16.0	20.0	18.0					12																	862733		2185	4281	6466	SO:0001582	initiator_codon_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2T>A	12.37:g.862733T>A	ENSP00000313059:p.Met1Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751600	0.31046	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.71579	-0.44;-0.46;-0.41;-0.58;-0.45	3.51	3.51	0.40186	.	0.253979	0.27720	N	0.018137	T	0.81133	0.4759	.	.	.	0.80722	D	1	D;D;D	0.57899	0.981;0.967;0.96	D;P;D	0.66351	0.943;0.879;0.923	T	0.82694	-0.0330	9	0.87932	D	0	-3.7698	9.9165	0.41436	0.0:0.0:0.0:1.0	.	1;1;1	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	K	1	ENSP00000441972:M1K;ENSP00000313059:M1K;ENSP00000444465:M1K;ENSP00000392542:M1K;ENSP00000433548:M1K	ENSP00000313059:M1K	M	+	2	0	WNK1	732994	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	2.969000	0.49232	1.463000	0.47967	0.254000	0.18369	ATG		0.682	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979	Missense_Mutation
YME1L1	10730	broad.mit.edu	37	10	27437893	27437893	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:27437893G>A	ENST00000326799.3	-	2	258	c.110C>T	c.(109-111)tCa>tTa	p.S37L	YME1L1_ENST00000477432.1_Missense_Mutation_p.S37L|YME1L1_ENST00000375972.3_Missense_Mutation_p.S37L|YME1L1_ENST00000376016.3_Missense_Mutation_p.S37L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	37					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S37L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTGAGAAACTGACACTCCACT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											214.0	213.0	213.0					10																	27437893		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.110C>T	10.37:g.27437893G>A	ENSP00000318480:p.Ser37Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466296	0.43839	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.94537	-3.2;-3.45;-3.23	5.49	4.59	0.56863	Peptidase M41, FtsH (1);	0.611979	0.17148	N	0.185185	D	0.87621	0.6223	N	0.14661	0.345	0.19300	N	0.999971	B;B;B;B	0.33637	0.0;0.42;0.0;0.0	B;B;B;B	0.29077	0.0;0.098;0.001;0.001	T	0.82305	-0.0523	10	0.62326	D	0.03	-5.243	12.0148	0.53307	0.1369:0.0:0.8631:0.0	.	37;37;37;37	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	L	37;37;37;37;37;29	ENSP00000365184:S37L;ENSP00000318480:S37L;ENSP00000365139:S37L	ENSP00000318480:S37L	S	-	2	0	YME1L1	27477899	1.000000	0.71417	0.028000	0.17463	0.587000	0.36485	6.580000	0.74040	2.580000	0.87095	0.655000	0.94253	TCA		0.403	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312	
ZAK	51776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	174131419	174131419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:174131419delC	ENST00000375213.3	+	20	2422	c.2344delC	c.(2344-2346)cccfs	p.P782fs	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Frame_Shift_Del_p.P782fs|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		782					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGGCCATCTCCCGCCAAAAC	0.483																																																	0													19.0	23.0	22.0					2																	174131419		1870	4112	5982	SO:0001589	frameshift_variant	51776																														ENST00000375213.3:c.2344delC	2.37:g.174131419delC	ENSP00000364361:p.Pro782fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Frame_Shift_Del	DEL	ENST00000375213.3	37	CCDS42777.1																																																																																				0.483	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			
ZER1	10444	broad.mit.edu	37	9	131514950	131514950	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:131514950A>C	ENST00000291900.2	-	5	1330		c.e5+1		ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator						protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTGGGGCCCCACCTGGTCTGC	0.572																																																	1	Unknown(1)	kidney(1)											36.0	36.0	36.0					9																	131514950		2203	4300	6503	SO:0001630	splice_region_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.923+1T>G	9.37:g.131514950A>C		Somatic		WXS	Illumina GAIIx	Phase_I	O00156|Q5T272|Q5T273	Splice_Site	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235919	0.79800	.	.	ENSG00000160445	ENST00000291900	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1191	0.65175	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZER1	130554771	1.000000	0.71417	0.984000	0.44739	0.876000	0.50452	8.504000	0.90512	2.119000	0.64992	0.533000	0.62120	.		0.572	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336	Intron
MSR1	4481	broad.mit.edu	37	8	16026114	16026114	+	Silent	SNP	G	G	T	rs533140719		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:16026114G>T	ENST00000262101.5	-	4	604	c.483C>A	c.(481-483)acC>acA	p.T161T	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Silent_p.T161T|MSR1_ENST00000355282.2_Silent_p.T161T|MSR1_ENST00000445506.2_Silent_p.T179T|MSR1_ENST00000381998.4_Silent_p.T161T			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	161					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.T161T(4)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGGAAAACAAGGTACTTAGCT	0.388																																						.											4	Substitution - coding silent(4)	lung(2)|kidney(2)											212.0	193.0	199.0					8																	16026114		2203	4300	6503	SO:0001819	synonymous_variant	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.483C>A	8.37:g.16026114G>T		Somatic		WXS	Illumina GAIIx	Phase_I	D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	CCDS5995.1																																																																																				0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			
