#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_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_ORegAnno_bin	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
RRAS2	22800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	14303174	14303174	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:14303174A>C	ENST00000256196.4	-	5	814	c.501T>G	c.(499-501)gcT>gcG	p.A167A	RRAS2_ENST00000529237.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000526063.1_Silent_p.A90A|RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000545643.1_Silent_p.A173A			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	167					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTTCATGGAAAGCTTGATCTA	0.348																																																0													256.0	214.0	228.0					11																	14303174		2200	4294	6494	SO:0001819	synonymous_variant	22800			M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.501T>G	11.37:g.14303174A>C			B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Silent	SNP	ENST00000256196.4	37	CCDS7814.1																																																																																				0.348	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		19	73	19	73
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55433000	55433000	+	Missense_Mutation	SNP	C	C	T	rs146965889	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:55433000C>T	ENST00000314259.3	+	1	387	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCCTATGACCGCTACGTGGC	0.552																																																0								C	CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	110.0	100.0	104.0		358	2.8	1.0	11	dbSNP_134	104	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR4C6	NM_001004704.1	180	0,4,6492	TT,TC,CC		0.0233,0.0455,0.0308	benign	120/310	55433000	4,12988	2200	4296	6496	SO:0001583	missense	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.358C>T	11.37:g.55433000C>T	ENSP00000324769:p.Arg120Cys		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154021	0.38021	4.55E-4	2.33E-4	ENSG00000181903	ENST00000314259	T	0.77358	-1.09	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.399974	0.18426	N	0.141590	T	0.77068	0.4076	M	0.82193	2.58	0.38941	D	0.958144	B	0.29301	0.241	B	0.26094	0.066	T	0.76495	-0.2938	10	0.72032	D	0.01	.	10.1243	0.42641	0.0:0.8965:0.0:0.1035	.	120	Q8NH72	OR4C6_HUMAN	C	120	ENSP00000324769:R120C	ENSP00000324769:R120C	R	+	1	0	OR4C6	55189576	0.955000	0.32602	1.000000	0.80357	0.854000	0.48673	1.405000	0.34635	0.599000	0.29845	0.536000	0.68110	CGC		0.552	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		15	60	15	60
A2ML1	144568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A	rs201562272	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:9004550G>A	ENST00000299698.7	+	19	2585	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCAGTAGTCCGTGGGGAATCC	0.502																																																0								G	HIS/ARG	0,3900		0,0,1950	191.0	179.0	183.0		2405	3.8	1.0	12		183	4,8290		0,4,4143	yes	missense	A2ML1	NM_144670.3	29	0,4,6093	AA,AG,GG		0.0482,0.0,0.0328	probably-damaging	802/1455	9004550	4,12190	1950	4147	6097	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2405G>A	12.37:g.9004550G>A	ENSP00000299698:p.Arg802His			Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855088	0.71719	0.0	4.82E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31247	1.5;1.5;1.5	3.85	3.85	0.44370	Alpha-2-macroglobulin (1);	0.149997	0.31884	N	0.006919	T	0.56455	0.1986	M	0.86573	2.825	0.36873	D	0.889032	D	0.89917	1.0	D	0.91635	0.999	T	0.66340	-0.5948	10	0.52906	T	0.07	.	9.6697	0.40004	0.1035:0.0:0.8965:0.0	.	802	A8K2U0	A2ML1_HUMAN	H	802;802;352;311	ENSP00000299698:R802H;ENSP00000443174:R352H;ENSP00000438292:R311H	ENSP00000299698:R802H	R	+	2	0	A2ML1	8895817	1.000000	0.71417	0.988000	0.46212	0.721000	0.41392	2.839000	0.48207	2.167000	0.68274	0.442000	0.29010	CGT		0.502	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		36	108	36	108
KRT3	3850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T	rs199804632		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:53187985C>T	ENST00000417996.2	-	2	850	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22317	0.0		0.0	False		,,,				2504	0.0															0								C	GLN/ARG	1,4377	2.1+/-5.4	0,1,2188	162.0	179.0	173.0		776	3.8	0.0	12		173	0,8600		0,0,4300	yes	missense	KRT3	NM_057088.2	43	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	259/629	53187985	1,12977	2189	4300	6489	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.776G>A	12.37:g.53187985C>T	ENSP00000413479:p.Arg259Gln		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.0	3.931241	0.73327	2.28E-4	0.0	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.92595	-3.07;-3.07	4.69	3.77	0.43336	Filament (1);	0.000000	0.42420	D	0.000715	D	0.93520	0.7932	M	0.73753	2.245	0.33964	D	0.645932	D	0.63046	0.992	P	0.58077	0.832	D	0.94631	0.7822	10	0.52906	T	0.07	.	7.8481	0.29437	0.1678:0.7505:0.0:0.0817	.	259	P12035	K2C3_HUMAN	Q	259	ENSP00000413479:R259Q;ENSP00000312206:R259Q	ENSP00000312206:R259Q	R	-	2	0	KRT3	51474252	0.001000	0.12720	0.011000	0.14972	0.805000	0.45488	1.298000	0.33412	1.281000	0.44480	0.655000	0.94253	CGG		0.532	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		31	116	31	116
MORN3	283385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	122091088	122091088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122091088C>T	ENST00000355329.3	-	4	711	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	181						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AACAGCTGGCCGTGGTCCAGA	0.607																																																0													69.0	59.0	62.0					12																	122091088		2203	4300	6503	SO:0001583	missense	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.541G>A	12.37:g.122091088C>T	ENSP00000347486:p.Gly181Ser		Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887467	0.91814	.	.	ENSG00000139714	ENST00000355329	T	0.39056	1.1	5.06	5.06	0.68205	.	0.112157	0.64402	D	0.000011	T	0.71239	0.3316	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77289	-0.2643	10	0.66056	D	0.02	.	18.3926	0.90489	0.0:1.0:0.0:0.0	.	181	Q6PF18	MORN3_HUMAN	S	181	ENSP00000347486:G181S	ENSP00000347486:G181S	G	-	1	0	MORN3	120575471	1.000000	0.71417	0.297000	0.24988	0.718000	0.41266	6.886000	0.75611	2.528000	0.85240	0.561000	0.74099	GGC		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		9	35	9	35
TMEM132B	114795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	126139203	126139203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:126139203G>A	ENST00000299308.3	+	9	3192	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TATGGGGCTGGGGGATTCACA	0.463																																																0													80.0	72.0	74.0					12																	126139203		1867	4101	5968	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3184G>A	12.37:g.126139203G>A	ENSP00000299308:p.Gly1062Arg		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508732	0.85282	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10192	3.69;2.9	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.29716	0.0742	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00119	-1.2031	10	0.46703	T	0.11	.	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1062	Q14DG7	T132B_HUMAN	R	1062;574	ENSP00000299308:G1062R;ENSP00000440436:G574R	ENSP00000299308:G1062R	G	+	1	0	TMEM132B	124705156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.595000	0.82710	2.741000	0.93983	0.655000	0.94253	GGG		0.463	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	62	16	62
LIG4	3981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	108863573	108863573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr13:108863573G>C	ENST00000356922.4	-	2	316	c.44C>G	c.(43-45)cCt>cGt	p.P15R	LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	15					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAAAAGGAACGTGAGA	0.358								Non-homologous end-joining																																								0													33.0	34.0	34.0					13																	108863573		2199	4271	6470	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.44C>G	13.37:g.108863573G>C	ENSP00000349393:p.Pro15Arg		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254826	0.95336	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.19394	2.15;2.15;2.15	6.06	6.06	0.98353	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.66378	2.025	0.80722	D	1	P	0.47604	0.898	P	0.53722	0.733	T	0.02269	-1.1185	10	0.48119	T	0.1	.	19.6068	0.95584	0.0:0.0:1.0:0.0	.	15	P49917	DNLI4_HUMAN	R	15	ENSP00000385955:P15R;ENSP00000402030:P15R;ENSP00000349393:P15R	ENSP00000349393:P15R	P	-	2	0	LIG4	107661574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.876000	0.98609	0.643000	0.83706	CCT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		12	53	12	53
CEP128	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	81329142	81329142	+	Missense_Mutation	SNP	G	G	A	rs200105295		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr14:81329142G>A	ENST00000555265.1	-	9	1096	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CEP128_ENST00000281129.3_Missense_Mutation_p.R241C|CEP128_ENST00000216517.6_Missense_Mutation_p.R241C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R241C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCTGGCGTCTTTCCACC	0.463																																																1	Substitution - Missense(1)	central_nervous_system(1)											135.0	117.0	123.0					14																	81329142		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.721C>T	14.37:g.81329142G>A	ENSP00000451162:p.Arg241Cys		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981040	0.53827	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	T;T;T	0.56444	1.11;1.11;0.46	6.08	6.08	0.98989	.	0.155258	0.45606	D	0.000341	T	0.72112	0.3420	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.994;0.996	T	0.70901	-0.4746	10	0.59425	D	0.04	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	241;122;241	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	241	ENSP00000281129:R241C;ENSP00000451162:R241C;ENSP00000216517:R241C	ENSP00000216517:R241C	R	-	1	0	CEP128	80398895	1.000000	0.71417	0.967000	0.41034	0.022000	0.10575	5.208000	0.65203	2.894000	0.99253	0.655000	0.94253	CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		18	74	18	74
TRIM69	140691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	45050860	45050860	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:45050860T>C	ENST00000559390.1	+	5	1549	c.621T>C	c.(619-621)ttT>ttC	p.F207F	TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000558173.1_Silent_p.F3F|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Silent_p.F207F			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	207					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCATGGAGTTTCTAAAGCTGC	0.463																																					Pancreas(84;519 1450 1802 20427 34706)											0													74.0	69.0	71.0					15																	45050860		2198	4298	6496	SO:0001819	synonymous_variant	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.621T>C	15.37:g.45050860T>C			A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	CCDS32220.1																																																																																				0.463	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			14	41	14	41
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9046352	9046352	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9046352G>T	ENST00000397910.4	-	5	35482	c.35279C>A	c.(35278-35280)aCt>aAt	p.T11760N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11762	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGTCAAAGTTGGAACAGT	0.478																																																0													126.0	122.0	123.0					19																	9046352		2014	4198	6212	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35279C>A	19.37:g.9046352G>T	ENSP00000381008:p.Thr11760Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.776	0.708481	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	3.57	-2.42	0.06542	.	.	.	.	.	T	0.04318	0.0119	L	0.50333	1.59	.	.	.	D	0.57899	0.981	P	0.54140	0.743	T	0.30592	-0.9973	8	0.87932	D	0	.	5.3704	0.16136	0.3596:0.1538:0.4866:0.0	.	11760	B5ME49	.	N	11760	ENSP00000381008:T11760N	ENSP00000381008:T11760N	T	-	2	0	MUC16	8907352	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.003000	0.03682	-0.343000	0.08351	0.556000	0.70494	ACT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	77	14	77
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9090675	9090675	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9090675G>T	ENST00000397910.4	-	1	1343	c.1140C>A	c.(1138-1140)caC>caA	p.H380Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	380	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGGCTATGTGGGTGCTGG	0.507																																																0													89.0	83.0	85.0					19																	9090675		2027	4186	6213	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1140C>A	19.37:g.9090675G>T	ENSP00000381008:p.His380Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.703	-0.500985	0.04261	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.38	0.184	0.15086	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.31812	0.136	T	0.48525	-0.9028	8	0.87932	D	0	.	4.5555	0.12135	0.0:0.0:0.6235:0.3765	.	380	B5ME49	.	Q	380	ENSP00000381008:H380Q	ENSP00000381008:H380Q	H	-	3	2	MUC16	8951675	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.352000	0.07701	0.109000	0.17891	0.313000	0.20887	CAC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	45	13	45
CEACAM5	1048	hgsc.bcm.edu;ucsc.edu	37	19	42213833	42213833	+	Missense_Mutation	SNP	T	T	G	rs112905632	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:42213833T>G	ENST00000221992.6	+	2	413	c.299T>G	c.(298-300)aTa>aGa	p.I100R	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I100R|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I100R|CEA_ENST00000598976.1_Missense_Mutation_p.I100R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	100	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGTCGAGAGATAATATACCCC	0.443																																																0													236.0	235.0	236.0					19																	42213833		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.299T>G	19.37:g.42213833T>G	ENSP00000221992:p.Ile100Arg		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.019|7.019	0.558338|0.558338	0.13436|0.13436	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.63580	.|-0.05;-0.05	3.09|3.09	-4.14|-4.14	0.03892|0.03892	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.40448|0.40448	0.1117|0.1117	N|N	0.17901|0.17901	0.54|0.54	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.009;0.001;0.0	.|B;B;B	.|0.30251	.|0.113;0.021;0.009	T|T	0.37126|0.37126	-0.9719|-0.9719	5|9	.|0.51188	.|T	.|0.08	.|.	1.1742|1.1742	0.01832|0.01832	0.1599:0.2314:0.1579:0.4507|0.1599:0.2314:0.1579:0.4507	.|.	.|100;100;100	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	E|R	96|100	.|ENSP00000221992:I100R;ENSP00000385072:I100R	.|ENSP00000221992:I100R	D|I	+|+	3|2	2|0	CEACAM5|CEACAM5	46905673|46905673	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-4.401000|-4.401000	0.00240|0.00240	-0.834000|-0.834000	0.04239|0.04239	-2.353000|-2.353000	0.00241|0.00241	GAT|ATA		0.443	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		45	206	45	206
EDN2	1907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	41948222	41948222	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:41948222G>A	ENST00000372587.4	-	3	328	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	87					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCGCCGGCGTCTTGGCGGG	0.642																																																0													24.0	32.0	29.0					1																	41948222		2196	4289	6485	SO:0001583	missense	1907			M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.259C>T	1.37:g.41948222G>A	ENSP00000361668:p.Arg87Cys		Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	CCDS462.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262773	0.80358	.	.	ENSG00000127129	ENST00000372587	D	0.85339	-1.97	5.29	5.29	0.74685	.	0.111688	0.64402	D	0.000006	D	0.92264	0.7546	M	0.81942	2.565	0.54753	D	0.999989	D	0.89917	1.0	D	0.79108	0.992	D	0.92715	0.6186	10	0.66056	D	0.02	-25.2077	15.7831	0.78275	0.0:0.0:1.0:0.0	.	87	P20800	EDN2_HUMAN	C	87	ENSP00000361668:R87C	ENSP00000361668:R87C	R	-	1	0	EDN2	41720809	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.619000	0.61218	2.744000	0.94065	0.655000	0.94253	CGC		0.642	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		9	26	9	26
SNX7	51375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	99157205	99157205	+	Missense_Mutation	SNP	A	A	G	rs199721724		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:99157205A>G	ENST00000306121.3	+	4	598	c.589A>G	c.(589-591)Act>Gct	p.T197A	SNX7_ENST00000370189.5_Missense_Mutation_p.T133A|SNX7_ENST00000529992.1_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	133					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGATCATCCAACTTTAACATT	0.328																																																0													76.0	78.0	77.0					1																	99157205		2203	4300	6503	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.589A>G	1.37:g.99157205A>G	ENSP00000304429:p.Thr197Ala		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968592	0.53614	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.38560	1.13;1.13	5.71	5.71	0.89125	.	0.155163	0.64402	D	0.000017	T	0.20251	0.0487	N	0.21373	0.66	0.43902	D	0.996531	B;B	0.28082	0.2;0.11	B;B	0.29716	0.106;0.044	T	0.07712	-1.0758	10	0.49607	T	0.09	-22.29	15.9776	0.80083	1.0:0.0:0.0:0.0	.	197;133	Q9UNH6-3;Q9UNH6-2	.;.	A	133;197	ENSP00000359208:T133A;ENSP00000304429:T197A	ENSP00000304429:T197A	T	+	1	0	SNX7	98929793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.621000	0.54210	2.189000	0.69895	0.528000	0.53228	ACT		0.328	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			11	52	11	52
OR10J3	441911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	159283478	159283478	+	Silent	SNP	C	C	T	rs201786076		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:159283478C>T	ENST00000332217.5	-	1	971	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A324A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398																																																1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	49.0	54.0	53.0		972	-7.7	0.0	1		53	1,8597		0,1,4298	no	coding-synonymous	OR10J3	NM_001004467.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		324/330	159283478	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.972G>A	1.37:g.159283478C>T				Silent	SNP	ENST00000332217.5	37	CCDS30909.1																																																																																				0.398	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			7	66	7	66
SLC45A3	85414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	205628648	205628648	+	Missense_Mutation	SNP	G	G	A	rs140263007	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:205628648G>A	ENST00000367145.3	-	5	1671	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCGCAGAGCGCGGGTGGAGG	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		18387	0.001		0.001	False		,,,				2504	0.0						Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	0								G	VAL/ALA	1,4405	4.2+/-10.8	0,1,2202	36.0	36.0	36.0		1376	2.3	0.0	1	dbSNP_134	36	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SLC45A3	NM_033102.2	64	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	459/554	205628648	5,13001	2203	4300	6503	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1376C>T	1.37:g.205628648G>A	ENSP00000356113:p.Ala459Val	2153	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.210	-0.161781	0.06502	2.27E-4	4.65E-4	ENSG00000158715	ENST00000367145	T	0.46451	0.87	5.48	2.33	0.28932	.	0.640864	0.15314	N	0.268905	T	0.31009	0.0783	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18335	-1.0340	10	0.37606	T	0.19	-0.6278	6.2514	0.20848	0.1723:0.1499:0.6778:0.0	.	459	Q96JT2	S45A3_HUMAN	V	459	ENSP00000356113:A459V	ENSP00000356113:A459V	A	-	2	0	SLC45A3	203895271	0.004000	0.15560	0.000000	0.03702	0.082000	0.17680	1.488000	0.35551	0.633000	0.30452	0.491000	0.48974	GCG		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		7	8	7	8
HEATR1	55127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	236766587	236766587	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:236766587C>G	ENST00000366582.3	-	3	346	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q|HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	78					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACTTCGCTCCAAGGTTTTT	0.418																																																0													161.0	150.0	154.0					1																	236766587		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.232G>C	1.37:g.236766587C>G	ENSP00000355541:p.Glu78Gln		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794640	0.50102	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.45668	0.89;0.89;0.89	5.39	5.39	0.77823	.	0.107786	0.64402	D	0.000008	T	0.35770	0.0943	L	0.45470	1.425	0.58432	D	0.999994	P	0.37864	0.61	B	0.32677	0.15	T	0.20140	-1.0284	10	0.42905	T	0.14	.	14.7344	0.69406	0.0:0.8556:0.1444:0.0	.	78	Q9H583	HEAT1_HUMAN	Q	78	ENSP00000355541:E78Q;ENSP00000355540:E78Q;ENSP00000355538:E78Q	ENSP00000355538:E78Q	E	-	1	0	HEATR1	234833210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.696000	0.68287	2.533000	0.85409	0.563000	0.77884	GAG		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		15	50	15	50
RIPK4	54101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	43161994	43161994	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000542057.1_Silent_p.C390C|RIPK4_ENST00000544709.1_Silent_p.C390C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	501					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657																																																1	Substitution - coding silent(1)	central_nervous_system(1)											89.0	90.0	90.0					21																	43161994		2203	4299	6502	SO:0001819	synonymous_variant	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1503C>T	21.37:g.43161994G>A			Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																					0.657	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		34	78	34	78
CCDC108	255101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr2:219868992G>A	ENST00000341552.5	-	33	5320	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1746						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.532																																																0													178.0	167.0	170.0					2																	219868992		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5237C>T	2.37:g.219868992G>A	ENSP00000340776:p.Pro1746Leu		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642525	0.03531	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04706	3.57;3.57;3.57	3.28	-6.57	0.01842	.	1.604130	0.04105	N	0.313630	T	0.02380	0.0073	N	0.05441	-0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	10	0.21014	T	0.42	-0.1893	7.2502	0.26146	0.3154:0.0:0.44:0.2446	.	1746	Q6ZU64	CC108_HUMAN	L	1746	ENSP00000340776:P1746L;ENSP00000413377:P1746L;ENSP00000409117:P1746L	ENSP00000340776:P1746L	P	-	2	0	CCDC108	219577236	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.744000	0.01832	-1.435000	0.01972	-2.566000	0.00172	CCG		0.532	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		30	75	30	75
CX3CR1	1524	hgsc.bcm.edu;ucsc.edu	37	3	39307545	39307545	+	Silent	SNP	G	G	A	rs17038679	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:39307545G>A	ENST00000541347.1	-	2	695	c.456C>T	c.(454-456)ggC>ggT	p.G152G	CX3CR1_ENST00000358309.3_Silent_p.G184G|CX3CR1_ENST00000399220.2_Silent_p.G152G|CX3CR1_ENST00000542107.1_Silent_p.G152G	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	152					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGCCCAGACGCCTAGGCTGA	0.552													G|||	59	0.0117812	0.0	0.0	5008	,	,		19002	0.0575		0.0	False		,,,				2504	0.001															0								G	,,,	0,4130		0,0,2065	77.0	82.0	80.0		456,456,552,456	-3.2	0.1	3	dbSNP_123	80	3,8397		0,3,4197	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CX3CR1	NM_001171171.1,NM_001171172.1,NM_001171174.1,NM_001337.3	,,,	0,3,6262	AA,AG,GG		0.0357,0.0,0.0239	,,,	152/356,152/356,184/388,152/356	39307545	3,12527	2065	4200	6265	SO:0001819	synonymous_variant	1524			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.456C>T	3.37:g.39307545G>A			A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	CCDS43069.1																																																																																				0.552	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		20	65	20	65
OR5H14	403273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	rs148799830	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		17365	0.0		0.0	False		,,,				2504	0.002															0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	55.0	50.0	52.0		766	-2.3	0.0	3	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR5H14	NM_001005514.1	58	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	256/311	97868995	2,13000	2203	4298	6501	SO:0001583	missense	403273				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.766G>A	3.37:g.97868995G>A	ENSP00000401706:p.Ala256Thr		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	3.325	-0.137822	0.06711	2.27E-4	1.16E-4	ENSG00000236032	ENST00000437310	T	0.37058	1.22	2.49	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.550026	0.15214	N	0.274324	T	0.12944	0.0314	N	0.05158	-0.105	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10989	-1.0606	10	0.52906	T	0.07	.	1.1048	0.01691	0.1767:0.4022:0.183:0.2381	.	256	A6NHG9	O5H14_HUMAN	T	256	ENSP00000401706:A256T	ENSP00000401706:A256T	A	+	1	0	OR5H14	99351685	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-1.146000	0.03191	-0.488000	0.06726	0.195000	0.17529	GCC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			18	41	18	41
ZNF518B	85460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	10445887	10445887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:10445887C>T	ENST00000326756.3	-	3	2504	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	689					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACAGAGCGACGATGTGCACT	0.448																																																0													103.0	103.0	103.0					4																	10445887		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2066G>A	4.37:g.10445887C>T	ENSP00000317614:p.Arg689His		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669047	0.88348	.	.	ENSG00000178163	ENST00000326756	T	0.01745	4.66	6.17	4.22	0.49857	.	0.903568	0.09425	N	0.803800	T	0.04318	0.0119	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.49652	-0.8917	10	0.52906	T	0.07	-4.7843	7.4316	0.27131	0.1683:0.7271:0.0:0.1045	.	689	Q9C0D4	Z518B_HUMAN	H	689	ENSP00000317614:R689H	ENSP00000317614:R689H	R	-	2	0	ZNF518B	10054985	0.015000	0.18098	0.011000	0.14972	0.578000	0.36192	0.759000	0.26461	1.613000	0.50231	0.655000	0.94253	CGT		0.448	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		22	99	22	99
PDGFRA	5156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	55139758	55139758	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:55139758C>T	ENST00000257290.5	+	10	1750	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	473	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAAACATCATCACGGAGATCC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													90.0	88.0	89.0					4																	55139758		2203	4300	6503	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1419C>T	4.37:g.55139758C>T			B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		28	32	28	32
AGA	175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	178361475	178361475	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:178361475C>T	ENST00000264595.2	-	2	360	c.233G>A	c.(232-234)aGt>aAt	p.S78N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	78					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTCATCAGGACTTCCTCCAAA	0.493																																																0													201.0	187.0	192.0					4																	178361475		2203	4300	6503	SO:0001583	missense	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.233G>A	4.37:g.178361475C>T	ENSP00000264595:p.Ser78Asn		B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252149	0.80135	.	.	ENSG00000038002	ENST00000264595	D	0.88586	-2.4	5.6	4.74	0.60224	.	0.071626	0.85682	D	0.000000	D	0.90683	0.7077	L	0.56769	1.78	0.80722	D	1	P	0.35959	0.53	P	0.48840	0.592	D	0.90138	0.4211	10	0.52906	T	0.07	-3.5537	13.9371	0.64032	0.0:0.9261:0.0:0.0739	.	78	P20933	ASPG_HUMAN	N	78	ENSP00000264595:S78N	ENSP00000264595:S78N	S	-	2	0	AGA	178598469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.527000	0.60573	2.793000	0.96121	0.563000	0.77884	AGT		0.493	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		30	94	30	94
GABRA1	2554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	161324340	161324340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:161324340C>T	ENST00000428797.2	+	11	1638	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATAGCCTTCCCGCTGCTATTT	0.423																																																0													146.0	147.0	147.0					5																	161324340		2203	4300	6503	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1283C>T	5.37:g.161324340C>T	ENSP00000393097:p.Pro428Leu		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949699	0.92660	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92846	0.6293	10	0.87932	D	0	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	428	P14867	GBRA1_HUMAN	L	428	ENSP00000023897:P428L;ENSP00000393097:P428L;ENSP00000377517:P428L;ENSP00000415441:P428L;ENSP00000408041:P428L;ENSP00000414232:P428L	ENSP00000023897:P428L	P	+	2	0	GABRA1	161256918	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.684000	0.84104	2.642000	0.89623	0.563000	0.77884	CCG		0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		34	84	34	84
RFX6	222546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	117248565	117248565	+	Missense_Mutation	SNP	C	C	T	rs563217936		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:117248565C>T	ENST00000332958.2	+	17	2277	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCGGCCACCGTCTAGCTAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17555	0.001		0.0	False		,,,				2504	0.0															0													57.0	54.0	55.0					6																	117248565		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2261C>T	6.37:g.117248565C>T	ENSP00000332208:p.Pro754Leu		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678815	0.47886	.	.	ENSG00000185002	ENST00000332958	T	0.59772	0.24	5.3	5.3	0.74995	.	0.315056	0.35096	N	0.003454	T	0.38532	0.1044	L	0.51422	1.61	0.47441	D	0.999429	P	0.41784	0.762	B	0.27887	0.084	T	0.53634	-0.8411	10	0.66056	D	0.02	-11.2078	19.1556	0.93509	0.0:1.0:0.0:0.0	.	754	Q8HWS3	RFX6_HUMAN	L	754	ENSP00000332208:P754L	ENSP00000332208:P754L	P	+	2	0	RFX6	117355258	0.953000	0.32496	1.000000	0.80357	0.896000	0.52359	3.475000	0.53136	2.758000	0.94735	0.655000	0.94253	CCG		0.517	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		8	38	8	38
LPA	4018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	161006128	161006128	+	Silent	SNP	C	C	T	rs535318353	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:161006128C>T	ENST00000316300.5	-	26	4283	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	LPA_ENST00000447678.1_Silent_p.S1413S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3921	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.S1413S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGACGACCAAGACT	0.448													C|||	5	0.000998403	0.0	0.0	5008	,	,		19404	0.0		0.0	False		,,,				2504	0.0051															1	Substitution - coding silent(1)	large_intestine(1)											222.0	223.0	223.0					6																	161006128		2187	4295	6482	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4239G>A	6.37:g.161006128C>T			Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		31	159	31	159
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	88965634	88965634	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:88965634A>G	ENST00000333190.4	+	4	3947	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1113							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAGAGGGAAATATAAACTCT	0.353										HNSCC(36;0.09)																																						0													50.0	50.0	50.0					7																	88965634		2203	4299	6502	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3338A>G	7.37:g.88965634A>G	ENSP00000329638:p.Asn1113Ser		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.790013	0.16258	.	.	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.88	1.0	0.19881	.	0.357306	0.27240	N	0.020271	T	0.02970	0.0088	N	0.19112	0.55	0.26334	N	0.977469	B	0.23540	0.087	B	0.20577	0.03	T	0.46331	-0.9199	10	0.06099	T	0.92	-4.6798	5.8169	0.18497	0.5845:0.2627:0.1528:0.0	.	1113	A4D1E1	Z804B_HUMAN	S	1113	ENSP00000329638:N1113S	ENSP00000329638:N1113S	N	+	2	0	ZNF804B	88803570	0.396000	0.25262	0.975000	0.42487	0.944000	0.59088	1.125000	0.31332	0.075000	0.16796	0.533000	0.62120	AAT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		16	69	16	69
COL1A2	1278	hgsc.bcm.edu;broad.mit.edu	37	7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	rs145693444	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)																																						0													66.0	74.0	71.0					7																	94038721		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.880G>A	7.37:g.94038721G>A	ENSP00000297268:p.Val294Ile		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029508	0.75504	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.92299	-3.01	5.73	5.73	0.89815	.	0.134929	0.49305	D	0.000159	D	0.84401	0.5464	N	0.03903	-0.33	0.53688	D	0.999976	P	0.37955	0.612	B	0.37550	0.253	D	0.85834	0.1393	10	0.54805	T	0.06	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	294	P08123	CO1A2_HUMAN	I	294;295	ENSP00000297268:V294I	ENSP00000297268:V294I	V	+	1	0	COL1A2	93876657	1.000000	0.71417	0.933000	0.37362	0.893000	0.52053	4.783000	0.62403	2.882000	0.98803	0.655000	0.94253	GTT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		33	94	33	94
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:131859587G>A	ENST00000359827.3	-	21	4929	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W			Q9HCM2	PLXA4_HUMAN	plexin A4	1323					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582																																																3	Substitution - Missense(3)	lung(2)|breast(1)											116.0	124.0	121.0					7																	131859587		2148	4280	6428	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3967C>T	7.37:g.131859587G>A	ENSP00000352882:p.Arg1323Trp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518462	0.64634	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15718	2.4;2.4	5.59	2.73	0.32206	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62158	-0.6913	10	0.87932	D	0	.	15.2126	0.73238	0.0:0.0:0.343:0.657	.	1323	Q9HCM2	PLXA4_HUMAN	W	1323	ENSP00000323194:R1323W;ENSP00000352882:R1323W	ENSP00000323194:R1323W	R	-	1	2	PLXNA4	131510127	0.996000	0.38824	1.000000	0.80357	0.826000	0.46750	0.322000	0.19576	0.288000	0.22398	-0.122000	0.15005	CGG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		36	125	36	125
TRPV6	55503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142573227	142573227	+	Silent	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:142573227T>C	ENST00000359396.3	-	8	1361	c.1116A>G	c.(1114-1116)ctA>ctG	p.L372L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	372					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCTGAAGTAGCTTCTGCT	0.572																																																0													76.0	71.0	73.0					7																	142573227		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1116A>G	7.37:g.142573227T>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																				0.572	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		15	60	15	60
RNF32	140545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:156437272G>A	ENST00000405335.1	+	4	504	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q|RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q|RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000392741.2_Missense_Mutation_p.R32Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	32						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328																																																0													60.0	62.0	62.0					7																	156437272		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.95G>A	7.37:g.156437272G>A	ENSP00000385285:p.Arg32Gln		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	1.082	-0.666788	0.03428	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;2.07	5.08	-1.36	0.09085	.	0.939806	0.08994	N	0.864060	T	0.81635	0.4864	N	0.16098	0.37	0.09310	N	1	B;B;B;B	0.14805	0.005;0.011;0.008;0.004	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.63932	-0.6525	10	0.08179	T	0.78	-0.4053	11.2559	0.49054	0.8429:0.0:0.1571:0.0	.	32;32;32;32	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	Q	32	ENSP00000385815:R32Q;ENSP00000405588:R32Q;ENSP00000315950:R32Q;ENSP00000385285:R32Q;ENSP00000308894:R32Q;ENSP00000376499:R32Q;ENSP00000376497:R32Q;ENSP00000341185:R32Q	ENSP00000308894:R32Q	R	+	2	0	RNF32	156130033	0.004000	0.15560	0.000000	0.03702	0.086000	0.17979	0.902000	0.28459	-0.139000	0.11414	0.591000	0.81541	CGA		0.328	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		12	42	12	42
NRG1	3084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	32621577	32621577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:32621577C>T	ENST00000405005.3	+	12	1580	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M|NRG1_ENST00000338921.4_Missense_Mutation_p.T535M			Q02297	NRG1_HUMAN	neuregulin 1	527					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTATGAAACGACCCAAGAG	0.552																																																0													66.0	59.0	62.0					8																	32621577		2203	4300	6503	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1580C>T	8.37:g.32621577C>T	ENSP00000384620:p.Thr527Met		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943070	0.53079	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.199996	0.44688	D	0.000439	T	0.75867	0.3908	M	0.67397	2.05	0.49213	D	0.999763	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;P;D;D;D	0.97110	0.999;0.991;0.995;0.817;0.991;1.0;0.991	T	0.73509	-0.3960	9	.	.	.	-4.4372	19.9364	0.97143	0.0:1.0:0.0:0.0	.	370;498;532;535;524;527;532	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	477;600;535;532;527;498;524;527;370	ENSP00000429582:T477M;ENSP00000429067:T600M;ENSP00000343395:T535M;ENSP00000349275:T532M;ENSP00000287840:T527M;ENSP00000287845:T498M;ENSP00000287842:T524M;ENSP00000384620:T527M;ENSP00000439276:T370M	.	T	+	2	0	NRG1	32741119	1.000000	0.71417	0.964000	0.40570	0.909000	0.53808	5.625000	0.67770	2.724000	0.93272	0.455000	0.32223	ACG		0.552	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			9	21	9	21
TMEM252	169693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	71155606	71155606	+	Missense_Mutation	SNP	G	G	A	rs566744205		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:71155606G>A	ENST00000377311.3	-	1	177	c.125C>T	c.(124-126)gCg>gTg	p.A42V	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	42						integral component of membrane (GO:0016021)											CAAATAGGCCGCAATCAGGCT	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17831	0.0		0.0	False		,,,				2504	0.0															0													64.0	60.0	62.0					9																	71155606		2203	4300	6503	SO:0001583	missense	169693			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.125C>T	9.37:g.71155606G>A	ENSP00000366528:p.Ala42Val			Missense_Mutation	SNP	ENST00000377311.3	37	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258616	0.01445	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	2.26	0.28386	.	1.673140	0.03164	N	0.169718	T	0.13200	0.0320	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29761	-1.0001	9	0.07175	T	0.84	-0.0067	9.1038	0.36685	0.7868:0.0:0.2132:0.0	.	42	Q8N6L7	CI071_HUMAN	V	42	.	ENSP00000366528:A42V	A	-	2	0	C9orf71	70345426	0.018000	0.18449	0.044000	0.18714	0.003000	0.03518	2.452000	0.44961	0.177000	0.19895	-1.105000	0.02106	GCG		0.537	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		9	20	9	20
LMX1B	4010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	129453250	129453250	+	Silent	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:129453250C>T	ENST00000373474.4	+	3	469	c.462C>T	c.(460-462)gaC>gaT	p.D154D	LMX1B_ENST00000355497.5_Silent_p.D154D|LMX1B_ENST00000425646.2_Silent_p.D131D|LMX1B_ENST00000561065.1_Silent_p.D131D|LMX1B_ENST00000526117.1_Silent_p.D154D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	154	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCGACGAATTCGTGC	0.637									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)											0													85.0	64.0	71.0					9																	129453250		2203	4300	6503	SO:0001819	synonymous_variant	4010	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.462C>T	9.37:g.129453250C>T			F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			4	26	4	26
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	3228242	3228242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:3228242G>A	ENST00000217939.6	-	7	8156	c.8002C>T	c.(8002-8004)Cgt>Tgt	p.R2668C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGAAACGTCCCTGCCCA	0.592																																																0													58.0	56.0	57.0					X																	3228242		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8002C>T	X.37:g.3228242G>A	ENSP00000217939:p.Arg2668Cys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144570	0.21288	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.13420	2.59	4.47	1.17	0.20885	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457234	0.15734	U	0.247241	T	0.33904	0.0879	M	0.83483	2.645	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.04976	-1.0914	10	0.62326	D	0.03	.	9.2082	0.37302	0.0:0.1364:0.5771:0.2865	.	2668	Q9NR99	MXRA5_HUMAN	C	2668	ENSP00000217939:R2668C	ENSP00000217939:R2668C	R	-	1	0	MXRA5	3238242	0.103000	0.21917	0.001000	0.08648	0.000000	0.00434	2.613000	0.46351	0.707000	0.31934	-0.242000	0.12053	CGT		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		34	60	34	60
HDX	139324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	83724443	83724443	+	Silent	SNP	A	A	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:83724443A>C	ENST00000297977.5	-	3	399	c.288T>G	c.(286-288)tcT>tcG	p.S96S	HDX_ENST00000506585.2_Silent_p.S38S|HDX_ENST00000373177.2_Silent_p.S96S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	96						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGTCCAAGAAGACTGCTGGC	0.428																																					Pancreas(53;231 1169 36156 43751 51139)											0													154.0	130.0	139.0					X																	83724443		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.288T>G	X.37:g.83724443A>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		38	94	38	94
CXorf57	55086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	105855370	105855370	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:105855370G>A	ENST00000372548.4	+	1	169	c.60G>A	c.(58-60)ccG>ccA	p.P20P	CXorf57_ENST00000372544.2_Silent_p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20							poly(A) RNA binding (GO:0044822)	p.P20P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572																																																1	Substitution - coding silent(1)	lung(1)											68.0	70.0	69.0					X																	105855370		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.60G>A	X.37:g.105855370G>A			H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	CCDS14519.1																																																																																				0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		28	88	28	88
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	134994995	134994995	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:134994995C>T	ENST00000370709.3	+	19	2654	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V|SAGE1_ENST00000535938.1_Missense_Mutation_p.A885V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	885						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCGAGAAGGCGCTTAAAGAA	0.368																																																0													51.0	45.0	47.0					X																	134994995		2203	4300	6503	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2654C>T	X.37:g.134994995C>T	ENSP00000359743:p.Ala885Val		Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.794449	0.00617	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.28069	1.63;1.63;1.67;1.63	2.15	-1.63	0.08345	.	0.775342	0.11544	N	0.553409	T	0.04679	0.0127	N	0.00260	-1.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32613	-0.9900	10	0.02654	T	1	.	2.3255	0.04222	0.2432:0.1563:0.0:0.6005	.	509;885	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	V	885;885;509;885	ENSP00000323191:A885V;ENSP00000445959:A885V;ENSP00000438276:A509V;ENSP00000359743:A885V	ENSP00000323191:A885V	A	+	2	0	SAGE1	134822661	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.381000	0.07417	-0.502000	0.06596	-1.147000	0.01851	GCG		0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		7	35	7	35
PNMA5	114824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	152159963	152159963	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:152159963G>A	ENST00000439251.1	-	2	618	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PNMA5_ENST00000535214.1_Silent_p.D60D|PNMA5_ENST00000452693.1_Silent_p.D60D|PNMA5_ENST00000361887.5_Silent_p.D60D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	60					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ccttggcattgtcttccctcc	0.522																																																0													155.0	131.0	139.0					X																	152159963		2203	4300	6503	SO:0001819	synonymous_variant	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.180C>T	X.37:g.152159963G>A			B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	CCDS14718.1																																																																																				0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	111	44	111
MTCP1	4515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	154293907	154293907	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:154293907T>C	ENST00000369476.3	-	3	842	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369479.1_5'Flank	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	88					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATGATGCTGTATCTGCCA	0.453			T	TRA@	T cell prolymphocytic leukemia																																		Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	0													116.0	111.0	112.0					X																	154293907		2038	4176	6214	SO:0001583	missense	4515				CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.263A>G	X.37:g.154293907T>C	ENSP00000358488:p.Gln88Arg		Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	T	9.055	0.992954	0.19043	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.30182	1.54;1.54	5.42	5.42	0.78866	.	0.192781	0.35970	N	0.002867	T	0.12347	0.0300	N	0.02011	-0.69	0.33947	D	0.643985	B	0.12013	0.005	B	0.12837	0.008	T	0.20273	-1.0280	10	0.17832	T	0.49	-11.1992	12.0273	0.53377	0.0:0.0:0.0:1.0	.	88	P56278	MTCP1_HUMAN	R	88	ENSP00000358488:Q88R;ENSP00000355058:Q88R	ENSP00000355058:Q88R	Q	-	2	0	MTCP1	153947101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.859000	0.62954	1.929000	0.55896	0.486000	0.48141	CAG		0.453	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		34	83	34	83
GABRA5	2558	broad.mit.edu;ucsc.edu	37	15	27184436	27184436	+	Intron	SNP	G	G	A	rs546015200	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:27184436G>A	ENST00000335625.5	+	9	1612				GABRA5_ENST00000355395.5_Intron|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.R50*|GABRA5_ENST00000400081.3_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AGGTCTCCTCGTGCCTCCCAC	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		20370	0.0		0.0	False		,,,				2504	0.0031															0													188.0	158.0	167.0					15																	27184436		876	1991	2867	SO:0001627	intron_variant	2562				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-636G>A	15.37:g.27184436G>A			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724580	0.96847	.	.	ENSG00000166206	ENST00000541819	.	.	.	5.44	-1.65	0.08291	.	1.684350	0.03356	N	0.196875	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	10.8669	0.46860	0.0:0.0679:0.5759:0.3562	.	.	.	.	X	50	.	ENSP00000442408:R50X	R	-	1	2	GABRB3	24767182	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	0.209000	0.17435	-0.601000	0.05783	-0.397000	0.06425	CGA		0.582	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			18	43	18	43
RECK	8434	broad.mit.edu;ucsc.edu	37	9	36102223	36102223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:36102223C>A	ENST00000377966.3	+	12	1997	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	477					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGATACATACCTCAGTAAGT	0.343																																																0													123.0	127.0	125.0					9																	36102223		2203	4300	6503	SO:0001587	stop_gained	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1431C>A	9.37:g.36102223C>A	ENSP00000367202:p.Tyr477*		B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	42	9.264261	0.99118	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.46	0.82	0.18793	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7702	7.0587	0.25113	0.0:0.4222:0.0:0.5778	.	.	.	.	X	477	.	ENSP00000367202:Y477X	Y	+	3	2	RECK	36092223	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.733000	0.26087	0.318000	0.23185	-0.137000	0.14449	TAC		0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			10	55	10	55
FAM83B	222584	broad.mit.edu;ucsc.edu	37	6	54735366	54735366	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:54735366T>C	ENST00000306858.7	+	2	438	c.322T>C	c.(322-324)Tgg>Cgg	p.W108R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	108										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGACTTAGGCTGGCCATATGT	0.458																																																0													105.0	106.0	106.0					6																	54735366		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.322T>C	6.37:g.54735366T>C	ENSP00000304078:p.Trp108Arg		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240505	0.39598	.	.	ENSG00000168143	ENST00000306858	T	0.22539	1.95	5.66	4.47	0.54385	.	0.122893	0.64402	D	0.000014	T	0.40862	0.1134	M	0.89601	3.045	0.53688	D	0.99997	D	0.60160	0.987	D	0.65573	0.936	T	0.53408	-0.8443	10	0.87932	D	0	-12.0128	12.2605	0.54647	0.1275:0.0:0.0:0.8725	.	108	Q5T0W9	FA83B_HUMAN	R	108	ENSP00000304078:W108R	ENSP00000304078:W108R	W	+	1	0	FAM83B	54843325	1.000000	0.71417	0.957000	0.39632	0.004000	0.04260	7.771000	0.85420	1.052000	0.40392	-0.480000	0.04831	TGG		0.458	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		23	84	23	84
OR2L8	391190	broad.mit.edu;ucsc.edu	37	1	248112581	248112581	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:248112581T>A	ENST00000357191.3	+	1	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGTGTGTGTGCTGATGATA	0.448																																																0													299.0	245.0	263.0					1																	248112581		2203	4300	6503	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.422T>A	1.37:g.248112581T>A	ENSP00000349719:p.Val141Glu		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.969804	0.53614	.	.	ENSG00000196936	ENST00000357191	T	0.39406	1.08	1.64	0.402	0.16344	GPCR, rhodopsin-like superfamily (1);	0.336362	0.16794	U	0.199247	T	0.54727	0.1876	M	0.88979	2.995	0.09310	N	1	P	0.46064	0.872	P	0.51742	0.678	T	0.49093	-0.8975	10	0.59425	D	0.04	.	5.731	0.18040	0.0:0.2954:0.0:0.7046	.	141	Q8NGY9	OR2L8_HUMAN	E	141	ENSP00000349719:V141E	ENSP00000349719:V141E	V	+	2	0	OR2L8	246179204	0.000000	0.05858	0.287000	0.24848	0.785000	0.44390	-2.720000	0.00812	-0.042000	0.13535	0.392000	0.25879	GTG		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			50	139	50	139
KALRN	8997	broad.mit.edu;ucsc.edu	37	3	124393414	124393414	+	Silent	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:124393414G>A	ENST00000291478.5	+	16	2218	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	KALRN_ENST00000462213.1_5'Flank|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000360013.3_Silent_p.A2382A|KALRN_ENST00000393496.1_Silent_p.A722A|KALRN_ENST00000428018.2_Silent_p.A653A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2381	Poly-Gln.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592																																																0													31.0	27.0	28.0					3																	124393414		2203	4300	6503	SO:0001819	synonymous_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2055G>A	3.37:g.124393414G>A			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	6.799	0.516527	0.12944	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.17	-10.3	0.00346	.	.	.	.	.	T	0.49525	0.1562	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.63773	-0.6561	4	.	.	.	.	11.18	0.48623	0.7411:0.066:0.1118:0.0811	.	.	.	.	H	2351	.	.	R	+	2	0	KALRN	125876104	0.002000	0.14202	0.200000	0.23457	0.989000	0.77384	-1.267000	0.02839	-2.833000	0.00338	-0.808000	0.03180	CGC		0.592	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		3	16	3	16
RAB11FIP1	80223	broad.mit.edu;ucsc.edu	37	8	37729072	37729072	+	Missense_Mutation	SNP	G	G	T	rs146365728	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:37729072G>T	ENST00000330843.4	-	4	3260	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1083					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGCGGGCTTGGACTCCCATT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													175.0	188.0	183.0					8																	37729072		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3248C>A	8.37:g.37729072G>T	ENSP00000331342:p.Pro1083Gln	872	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458579	0.26248	.	.	ENSG00000156675	ENST00000330843	T	0.14022	2.54	5.02	-0.788	0.10939	.	1.212020	0.06191	N	0.681405	T	0.13072	0.0317	L	0.53249	1.67	0.09310	N	0.999995	B;B	0.31910	0.346;0.019	B;B	0.35278	0.199;0.008	T	0.36625	-0.9740	10	0.34782	T	0.22	0.0011	1.9478	0.03360	0.2586:0.1103:0.4621:0.169	.	412;1083	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	Q	1083	ENSP00000331342:P1083Q	ENSP00000331342:P1083Q	P	-	2	0	RAB11FIP1	37848230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.000000	0.03693	-0.058000	0.13177	-1.805000	0.00616	CCA		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		63	195	63	195
PPP1R17	10842	broad.mit.edu;ucsc.edu	37	7	31746856	31746856	+	Missense_Mutation	SNP	G	G	A	rs367827815		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:31746856G>A	ENST00000342032.3	+	5	1055	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Missense_Mutation_p.V92M	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	143					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.V143M(1)									CAAAGCAATCGTGGAAGATGA	0.433																																																1	Substitution - Missense(1)	large_intestine(1)						G	MET/VAL,MET/VAL	0,4406		0,0,2203	135.0	116.0	123.0		427,274	-11.7	0.1	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_006658.4,NM_001145123.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	143/156,92/105	31746856	1,13005	2203	4300	6503	SO:0001583	missense	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.427G>A	7.37:g.31746856G>A	ENSP00000340125:p.Val143Met		B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.586982	0.13749	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.30182	1.56;1.54	5.86	-11.7	0.00046	.	1.058450	0.07215	N	0.859836	T	0.08846	0.0219	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.38672	-0.9650	10	0.18710	T	0.47	0.0892	11.6713	0.51403	0.1451:0.3686:0.4863:0.0	.	92;143	B4DE58;O96001	.;PPR17_HUMAN	M	143;92	ENSP00000340125:V143M;ENSP00000386459:V92M	ENSP00000340125:V143M	V	+	1	0	C7orf16	31713381	0.001000	0.12720	0.093000	0.20910	0.720000	0.41350	-1.856000	0.01662	-2.102000	0.00845	-0.355000	0.07637	GTG		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		5	28	5	28
C1orf158	93190	broad.mit.edu;ucsc.edu	37	1	12820859	12820859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:12820859G>A	ENST00000288048.5	+	4	776	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	187								p.R187P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCATCGCCTGCATCCT	0.577																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											89.0	78.0	82.0					1																	12820859		2203	4300	6503	SO:0001583	missense	0			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.560G>A	1.37:g.12820859G>A	ENSP00000288048:p.Arg187His		Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.563117	0.27915	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.50001	0.78;0.76	4.55	1.53	0.23141	.	0.476202	0.23712	N	0.045317	T	0.36054	0.0953	L	0.55481	1.735	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.28808	-1.0032	10	0.52906	T	0.07	-6.9156	3.9984	0.09569	0.2048:0.0:0.6083:0.1869	.	187	Q8N1D5	CA158_HUMAN	H	187;149	ENSP00000288048:R187H;ENSP00000365383:R149H	ENSP00000288048:R187H	R	+	2	0	C1orf158	12743446	0.002000	0.14202	0.028000	0.17463	0.003000	0.03518	0.745000	0.26259	0.520000	0.28426	0.563000	0.77884	CGC		0.577	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		7	36	7	36
IGHV1-58	28464	broad.mit.edu;ucsc.edu	37	14	107078546	107078546	+	RNA	SNP	G	G	A			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr14:107078546G>A	ENST00000390628.2	-	0	238									immunoglobulin heavy variable 1-58																		CGTTGTCCACGAGCCTGTCGC	0.532																																																0													79.0	87.0	84.0					14																	107078546		2034	4198	6232			28464			M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078546G>A				RNA	SNP	ENST00000390628.2	37																																																																																					0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		17	59	17	59
MECOM	2122	broad.mit.edu;hgsc.bcm.edu	37	3	168833251	168833251	+	Frame_Shift_Del	DEL	G	G	-	rs141957464	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:168833251delG	ENST00000464456.1	-	7	3045	c.1845delC	c.(1843-1845)agcfs	p.S615fs	MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	24					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGACGTTGCTTCCTTTTT	0.488																																																0													121.0	110.0	114.0					3																	168833251		2203	4300	6503	SO:0001589	frameshift_variant	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1845delC	3.37:g.168833251delG	ENSP00000419770:p.Ser615fs		Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	CCDS54669.1																																																																																				0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	34	15	34
