#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AASDH	132949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57215942	57215942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:57215942delT	ENST00000205214.6	-	11	2155	c.1975delA	c.(1975-1977)acafs	p.T659fs	AASDH_ENST00000513376.1_Frame_Shift_Del_p.T559fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.T506fs|AASDH_ENST00000434343.2_Frame_Shift_Del_p.T174fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.T659fs|AASDH_ENST00000502617.1_Frame_Shift_Del_p.T659fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	659					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGTAAAGATGTTCCACTGGCT	0.408																																																	0													226.0	197.0	207.0					4																	57215942		2203	4300	6503	SO:0001589	frameshift_variant	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1975delA	4.37:g.57215942delT	ENSP00000205214:p.Thr659fs	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	ENST00000205214.6	37	CCDS3504.1																																																																																				0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806	
ABCB5	340273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	20739468	20739468	+	Silent	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:20739468A>G	ENST00000404938.2	+	18	2827	c.2175A>G	c.(2173-2175)aaA>aaG	p.K725K	ABCB5_ENST00000258738.6_Silent_p.K280K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	725	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.K725K(1)|p.K280K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAATGATAAAACCACATTAA	0.294																																																	2	Substitution - coding silent(2)	kidney(2)											131.0	124.0	126.0					7																	20739468		2203	4299	6502	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2175A>G	7.37:g.20739468A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.294	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559	
ABCA13	154664	broad.mit.edu;ucsc.edu	37	7	48682951	48682951	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:48682951G>A	ENST00000435803.1	+	60	14929	c.14905G>A	c.(14905-14907)Gac>Aac	p.D4969N	ABCA13_ENST00000544596.1_Missense_Mutation_p.D699N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4969					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D4914N(1)|p.D4969N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACTGTTTCTGACCACTTGAA	0.308																																																	2	Substitution - Missense(2)	kidney(2)											192.0	184.0	187.0					7																	48682951		1825	4083	5908	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14905G>A	7.37:g.48682951G>A	ENSP00000411096:p.Asp4969Asn	Somatic		WXS	Illumina GAIIx	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278567	0.59758	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.82984	-1.67;-1.67;-1.67	5.39	5.39	0.77823	.	0.000000	0.45867	D	0.000326	D	0.86234	0.5884	L	0.37897	1.145	0.43824	D	0.996392	B;P;D	0.89917	0.151;0.681;1.0	B;B;D	0.83275	0.108;0.388;0.996	T	0.83174	-0.0092	10	0.22706	T	0.39	.	15.8642	0.79052	0.0:0.0:1.0:0.0	.	699;2671;4969	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	N	4969;742;699	ENSP00000411096:D4969N;ENSP00000391042:D742N;ENSP00000442634:D699N	ENSP00000391042:D742N	D	+	1	0	ABCA13	48653497	1.000000	0.71417	0.982000	0.44146	0.125000	0.20455	3.069000	0.50026	2.513000	0.84729	0.655000	0.94253	GAC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ABCD3	5825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94943864	94943864	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:94943864G>A	ENST00000370214.4	+	8	701	c.677G>A	c.(676-678)gGa>gAa	p.G226E	ABCD3_ENST00000454898.2_Missense_Mutation_p.G250E|ABCD3_ENST00000315713.5_Missense_Mutation_p.G226E|ABCD3_ENST00000394233.2_Missense_Mutation_p.G226E|ABCD3_ENST00000536817.1_Missense_Mutation_p.G153E	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	226	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.G226E(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTGCAATTGGAGCTCAGGTG	0.269																																																	2	Substitution - Missense(2)	kidney(2)											71.0	72.0	72.0					1																	94943864		2201	4293	6494	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.677G>A	1.37:g.94943864G>A	ENSP00000359233:p.Gly226Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065061	0.93898	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99778	-3.47;-3.47;-3.47;-3.47;-6.73	5.53	5.53	0.82687	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97225	0.9880	10	0.62326	D	0.03	-17.7584	19.403	0.94639	0.0:0.0:1.0:0.0	.	250;226;226;226	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	E	226;250;153;226;226	ENSP00000377780:G226E;ENSP00000403357:G250E;ENSP00000440692:G153E;ENSP00000359233:G226E;ENSP00000326880:G226E	ENSP00000326880:G226E	G	+	2	0	ABCD3	94716452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.670000	0.91168	2.762000	0.94881	0.655000	0.94253	GGA		0.269	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858	
ADRA2B	151	hgsc.bcm.edu	37	2	96780986	96780987	+	In_Frame_Ins	INS	-	-	TCCTCCTCT	rs4426564|rs60083507|rs28365031|rs34667759|rs29000568	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:96780986_96780987insTCCTCCTCT	ENST00000409345.3	-	1	997_998	c.902_903insAGAGGAGGA	c.(901-903)gag>gaAGAGGAGGAg	p.301_301E>EEEE		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	301	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	cctcctcctcctcctcctcttc	0.658														2357	0.470647	0.5151	0.4625	5008	,	,		17797	0.4067		0.4652	False		,,,				2504	0.4877																0										3210,27,22,767		1369,23,7,442,1,0,2,7,1,161						-1.6	0.6		dbSNP_130	13	5261,50,21,2686		1819,45,7,1571,1,0,3,4,6,553	no	codingComplex	ADRA2B	NM_000682.5		3188,68,14,2013,2,0,5,11,7,714	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		34.3851,20.2683,29.6662				8471,77,43,3453				SO:0001652	inframe_insertion	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.894_902dupAGAGGAGGA	2.37:g.96780987_96780995dupTCCTCCTCT	ENSP00000387281:p.GluGluGlu304dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Ins	INS	ENST00000409345.3	37	CCDS56129.1																																																																																				0.658	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			
AFF3	3899	hgsc.bcm.edu	37	2	100210335	100210340	+	In_Frame_Del	DEL	GGCTGA	GGCTGA	-	rs199557232|rs201754690|rs374209646		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	GGCTGA	GGCTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:100210335_100210340delGGCTGA	ENST00000409236.2	-	13	1895_1900	c.1783_1788delTCAGCC	c.(1783-1788)tcagccdel	p.SA595del	AFF3_ENST00000409579.1_In_Frame_Del_p.SA620del|AFF3_ENST00000356421.2_In_Frame_Del_p.SA620del|AFF3_ENST00000317233.4_In_Frame_Del_p.SA595del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	595					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGCCGTCCCCGGCTGAGGTCCTCTCG	0.782																																																	0									,	27,3181		7,13,1584					,	1.1	0.6			8	218,6682		26,166,3258	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	33,179,4842	A1A1,A1R,RR		3.1594,0.8416,2.4238	,	,		245,9863				SO:0001651	inframe_deletion	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1783_1788delTCAGCC	2.37:g.100210335_100210340delGGCTGA	ENSP00000387207:p.Ser595_Ala596del	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.782	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
AIFM3	150209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21331018	21331018	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:21331018G>T	ENST00000399167.2	+	12	1349	c.1109G>T	c.(1108-1110)aGg>aTg	p.R370M	AIFM3_ENST00000333607.6_Missense_Mutation_p.R370M|AIFM3_ENST00000399163.2_Missense_Mutation_p.R370M|AIFM3_ENST00000405089.1_Missense_Mutation_p.R376M|AIFM3_ENST00000440238.2_Missense_Mutation_p.R370M|AIFM3_ENST00000335375.5_Missense_Mutation_p.R358M|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	370					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.R370M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCTTCAGGAGGTTCCTGGGG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											37.0	35.0	36.0					22																	21331018		2201	4298	6499	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1109G>T	22.37:g.21331018G>T	ENSP00000382120:p.Arg370Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103142	0.37145	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.08	-2.4	0.06583	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.339436	0.32753	N	0.005689	T	0.65811	0.2727	M	0.84326	2.69	0.35222	D	0.776093	D;B;B;B;B	0.55800	0.973;0.257;0.13;0.03;0.037	P;B;B;B;B	0.54270	0.747;0.216;0.098;0.062;0.103	T	0.73563	-0.3943	10	0.62326	D	0.03	.	10.278	0.43521	0.6146:0.0:0.3854:0.0	.	358;358;376;370;370	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	M	370;370;376;358;370;370	ENSP00000382120:R370M;ENSP00000382116:R370M;ENSP00000385800:R376M;ENSP00000335369:R358M;ENSP00000390798:R370M;ENSP00000327671:R370M	ENSP00000327671:R370M	R	+	2	0	AIFM3	19661018	0.988000	0.35896	0.980000	0.43619	0.899000	0.52679	0.316000	0.19469	-0.328000	0.08539	-0.258000	0.10820	AGG		0.697	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1		NM_144704	
AIM1	202	broad.mit.edu;hgsc.bcm.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	G	rs573858590		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:106987378A>G	ENST00000369066.3	+	7	4082	c.3595A>G	c.(3595-3597)Att>Gtt	p.I1199V	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		19373	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											133.0	128.0	130.0					6																	106987378		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3595A>G	6.37:g.106987378A>G	ENSP00000358062:p.Ile1199Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744816	0.49151	.	.	ENSG00000112297	ENST00000369066	T	0.75589	-0.95	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	T	0.56337	0.1978	N	0.20445	0.575	0.80722	D	1	B	0.27140	0.169	B	0.41236	0.351	T	0.58429	-0.7638	10	0.21540	T	0.41	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	V	1199	ENSP00000358062:I1199V	ENSP00000358062:I1199V	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			
ALDH1A2	8854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58257978	58257978	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:58257978T>A	ENST00000249750.4	-	8	1613	c.846A>T	c.(844-846)agA>agT	p.R282S	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R244S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R253S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R261S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R186S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	282					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R282S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGAGTTACTCTCTTCAAAT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											124.0	124.0	124.0					15																	58257978		2192	4292	6484	SO:0001583	missense	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.846A>T	15.37:g.58257978T>A	ENSP00000249750:p.Arg282Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532275	0.85812	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.18502	2.21;2.21;2.21	5.73	4.6	0.57074	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.973;0.955;1.0;1.0	T	0.10567	-1.0624	10	0.87932	D	0	.	11.4382	0.50081	0.0:0.0703:0.0:0.9297	.	253;261;244;282	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	282;186;253;244;261	ENSP00000249750:R282S;ENSP00000309623:R244S;ENSP00000438296:R261S	ENSP00000249750:R282S	R	-	3	2	ALDH1A2	56045270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.861000	0.62969	2.308000	0.77769	0.533000	0.62120	AGA		0.428	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			
APLP2	334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	129999984	129999984	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:129999984G>C	ENST00000263574.5	+	11	1579	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	APLP2_ENST00000278756.7_Missense_Mutation_p.D513H|APLP2_ENST00000345598.5_Missense_Mutation_p.D274H|APLP2_ENST00000543137.1_Missense_Mutation_p.D410H|APLP2_ENST00000528499.1_Missense_Mutation_p.D447H|APLP2_ENST00000539648.1_Missense_Mutation_p.D291H|APLP2_ENST00000338167.5_Missense_Mutation_p.D503H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	503					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.D503H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGAGAACAAAGATCGCTTACA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											169.0	148.0	155.0					11																	129999984		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1507G>C	11.37:g.129999984G>C	ENSP00000263574:p.Asp503His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871676	0.91587	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	5.33	0.75918	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;0.999;0.994;1.0;0.998;0.994;0.995	T	0.81595	-0.0861	10	0.87932	D	0	-37.5512	18.0139	0.89232	0.0:0.0:1.0:0.0	.	291;503;447;274;441;447;503	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	H	447;291;503;274;503;513;410	ENSP00000435914:D447H;ENSP00000443728:D291H;ENSP00000263574:D503H;ENSP00000263575:D274H;ENSP00000345444:D503H;ENSP00000278756:D513H;ENSP00000444122:D410H	ENSP00000263574:D503H	D	+	1	0	APLP2	129505194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.506000	0.84524	0.655000	0.94253	GAT		0.453	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1		NM_001642	
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21225676	21225676	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:21225676C>T	ENST00000233242.1	-	29	12745	c.12618G>A	c.(12616-12618)ggG>ggA	p.G4206G	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4206					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G4206G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAGGTTTCCCCGGAAACT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	53.0	52.0					2																	21225676		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12618G>A	2.37:g.21225676C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			
APPL2	55198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105589090	105589090	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:105589090G>A	ENST00000258530.3	-	14	1415	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	APPL2_ENST00000551662.1_Missense_Mutation_p.A403V|APPL2_ENST00000549573.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.A354V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.A397V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGGAGTCACTGCTTGCAGAGC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											141.0	119.0	126.0					12																	105589090		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1190C>T	12.37:g.105589090G>A	ENSP00000258530:p.Ala397Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876006	0.91664	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.26067	2.57;1.76;2.35	5.84	5.84	0.93424	.	0.098954	0.64402	D	0.000002	T	0.41858	0.1177	M	0.65975	2.015	0.80722	D	1	D;P;P	0.54047	0.964;0.939;0.685	P;P;B	0.52267	0.694;0.497;0.358	T	0.05305	-1.0893	10	0.20519	T	0.43	-9.8926	20.2184	0.98308	0.0:0.0:1.0:0.0	.	403;354;397	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	V	397;354;403	ENSP00000258530:A397V;ENSP00000444472:A354V;ENSP00000446917:A403V	ENSP00000258530:A397V	A	-	2	0	APPL2	104113220	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	9.209000	0.95087	2.775000	0.95449	0.632000	0.83419	GCA		0.448	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171	
ATP9B	374868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	76870367	76870367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr18:76870367G>A	ENST00000426216.2	+	3	323	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ATP9B_ENST00000307671.7_Nonsense_Mutation_p.W102*|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000458297.2_Nonsense_Mutation_p.W50*|ATP9B_ENST00000586722.1_Nonsense_Mutation_p.W102*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	102					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W102*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGTGGTTGGCTGATAAATA	0.323																																																	1	Substitution - Nonsense(1)	kidney(1)											74.0	78.0	77.0					18																	76870367		2203	4300	6503	SO:0001587	stop_gained	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.306G>A	18.37:g.76870367G>A	ENSP00000398076:p.Trp102*	Somatic		WXS	Illumina HiSeq	Phase_I	O60872|Q08AD8|Q08AD9	Nonsense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750855	0.89753	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	.	.	.	5.31	5.31	0.75309	.	0.054162	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	.	.	.	X	25;102;102;50	.	ENSP00000304500:W102X	W	+	3	0	ATP9B	74971355	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.139000	0.50577	2.489000	0.83994	0.561000	0.74099	TGG		0.323	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3		NM_198531	
B3GALT4	8705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33246066	33246066	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:33246066G>T	ENST00000451237.1	+	1	1150	c.870G>T	c.(868-870)gaG>gaT	p.E290D		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	290					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E290D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCCCATTAGAGGATGTCTTTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											61.0	62.0	62.0					6																	33246066		2203	4300	6503	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.870G>T	6.37:g.33246066G>T	ENSP00000390784:p.Glu290Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000451237.1	37	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471303	0.43942	.	.	ENSG00000235863	ENST00000451237	T	0.54866	0.55	4.45	0.462	0.16695	.	0.000000	0.64402	D	0.000001	T	0.37461	0.1004	L	0.37507	1.11	0.45946	D	0.99877	D	0.76494	0.999	D	0.87578	0.998	T	0.36578	-0.9742	10	0.09843	T	0.71	.	8.1306	0.31024	0.3624:0.0:0.6376:0.0	.	290	O96024	B3GT4_HUMAN	D	290	ENSP00000390784:E290D	ENSP00000390784:E290D	E	+	3	2	B3GALT4	33354044	1.000000	0.71417	0.982000	0.44146	0.569000	0.35902	1.105000	0.31086	-0.109000	0.12044	-0.366000	0.07423	GAG		0.617	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			
BRWD3	254065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	79948521	79948521	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:79948521C>T	ENST00000373275.4	-	28	3397	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1061					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A1061T(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACCACCAGGCGTCATCTATT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											147.0	135.0	139.0					X																	79948521		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3181G>A	X.37:g.79948521C>T	ENSP00000362372:p.Ala1061Thr	Somatic		WXS	Illumina HiSeq	Phase_I	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162481	0.94727	.	.	ENSG00000165288	ENST00000373275	T	0.44083	0.93	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.68595	-0.5367	9	.	.	.	-6.5463	17.3969	0.87448	0.0:1.0:0.0:0.0	.	1061	Q6RI45	BRWD3_HUMAN	T	1061	ENSP00000362372:A1061T	.	A	-	1	0	BRWD3	79835177	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.320000	0.79064	2.292000	0.77174	0.600000	0.82982	GCC		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1		NM_153252	
CFAP43	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105924006	105924007	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:105924006_105924007insA	ENST00000357060.3	-	24	3206_3207	c.3091_3092insT	c.(3091-3093)tatfs	p.Y1031fs	WDR96_ENST00000428666.1_Frame_Shift_Ins_p.Y1032fs	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTTTGTTTATATGCAGCGTCA	0.317																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000357060.3:c.3092dupT	10.37:g.105924007_105924007dupA	ENSP00000349568:p.Tyr1031fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000357060.3	37	CCDS31281.1																																																																																				0.317	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
CFAP43	80217	hgsc.bcm.edu	37	10	105924008	105924008	+	Silent	SNP	T	T	C	rs146641264	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:105924008T>C	ENST00000357060.3	-	24	3205	c.3090A>G	c.(3088-3090)gcA>gcG	p.A1030A	WDR96_ENST00000428666.1_Silent_p.A1031A	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTTTATATGCAGCGTCAA	0.313																																																	0								T		2,4404	4.2+/-10.8	0,2,2201	75.0	65.0	68.0		3090	0.8	1.0	10	dbSNP_134	68	0,8598		0,0,4299	no	coding-synonymous	WDR96	NM_025145.5		0,2,6500	CC,CT,TT		0.0,0.0454,0.0154		1030/1666	105924008	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000357060.3:c.3090A>G	10.37:g.105924008T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	3.573	-0.087311	0.07097	4.54E-4	0.0	ENSG00000197748	ENST00000434629	.	.	.	6.06	0.817	0.18773	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	5.4363	0.16484	0.1018:0.0661:0.4247:0.4074	.	.	.	.	R	391	.	.	H	-	2	0	WDR96	105913998	0.016000	0.18221	0.998000	0.56505	0.304000	0.27724	-1.301000	0.02749	0.164000	0.19529	-0.299000	0.09455	CAT		0.313	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
C17orf75	64149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30660470	30660470	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:30660470A>G	ENST00000577809.1	-	9	990	c.941T>C	c.(940-942)cTt>cCt	p.L314P	C17orf75_ENST00000225805.4_Missense_Mutation_p.L314P|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	314				L -> F (in Ref. 1; AAG23214). {ECO:0000305}.				p.L314P(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGTCGGAAAAGAAAAGGGTT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											137.0	136.0	137.0					17																	30660470		1825	4083	5908	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.941T>C	17.37:g.30660470A>G	ENSP00000464275:p.Leu314Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470420	0.43942	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78107	-0.2333	9	0.56958	D	0.05	-24.6114	15.5431	0.76070	1.0:0.0:0.0:0.0	.	314	Q9HAS0	NJMU_HUMAN	P	314	.	ENSP00000225805:L314P	L	-	2	0	C17orf75	27684583	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.324000	0.90005	2.084000	0.62774	0.533000	0.62120	CTT		0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1		NM_022344	
CCDC180	100499483	hgsc.bcm.edu	37	9	100079370	100079371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:100079370_100079371insA	ENST00000357054.1	+	23	2303_2304	c.1368_1369insA	c.(1369-1371)aacfs	p.N457fs	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.N318fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.N315fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.N457fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.N318fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	457						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCTGCTGGGCAACCGGAAGGC	0.619																																																	0																																										SO:0001589	frameshift_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1370dupA	9.37:g.100079372_100079372dupA	ENSP00000349562:p.Asn457fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37																																																																																					0.619	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893	
CABLES2	81928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60971621	60971621	+	Silent	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:60971621G>A	ENST00000279101.5	-	2	398	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	130					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.S130S(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAACTCCAGGGAGCAGCGCT	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	47.0	47.0					20																	60971621		2203	4299	6502	SO:0001819	synonymous_variant	81928			BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.390C>T	20.37:g.60971621G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	CCDS33503.1																																																																																				0.647	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2		XM_037265	
CHAF1B	8208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37785583	37785583	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr21:37785583C>G	ENST00000314103.5	+	12	1614	c.1463C>G	c.(1462-1464)aCa>aGa	p.T488R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	488					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.T488R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ACTCTGAACACACTGCAAGCC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											41.0	44.0	43.0					21																	37785583		2199	4293	6492	SO:0001583	missense	8208			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1463C>G	21.37:g.37785583C>G	ENSP00000315700:p.Thr488Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046017	0.93685	.	.	ENSG00000159259	ENST00000314103	T	0.59772	0.24	5.41	5.41	0.78517	.	0.045134	0.85682	D	0.000000	T	0.61337	0.2339	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.53927	-0.8369	10	0.16896	T	0.51	-21.8026	19.1993	0.93704	0.0:1.0:0.0:0.0	.	488	Q13112	CAF1B_HUMAN	R	488	ENSP00000315700:T488R	ENSP00000315700:T488R	T	+	2	0	CHAF1B	36707453	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.773000	0.75006	2.514000	0.84764	0.563000	0.77884	ACA		0.532	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2		NM_005441	
CLK2	1196	broad.mit.edu;ucsc.edu	37	1	155238498	155238498	+	Splice_Site	DEL	C	C	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:155238498delC	ENST00000368361.4	-	4	803		c.e4+1		CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Splice_Site|CLK2_ENST00000536801.1_Splice_Site			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGGCTTGTACATCGCTCTTG	0.562								Other conserved DNA damage response genes																																									0													141.0	113.0	123.0					1																	155238498		2203	4300	6503	SO:0001630	splice_region_variant	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.487+1G>-	1.37:g.155238498delC		Somatic		WXS	Illumina GAIIx	Phase_I	B1AVS9|B5MBX6|Q96CQ0	Splice_Site	DEL	ENST00000368361.4	37																																																																																					0.562	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1		NM_003993	Intron
CSAG1	158511	broad.mit.edu;hgsc.bcm.edu	37	X	151909172	151909172	+	Silent	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:151909172C>A	ENST00000370287.3	+	5	529	c.201C>A	c.(199-201)ccC>ccA	p.P67P	CSAG1_ENST00000452779.2_Silent_p.P67P|CSAG1_ENST00000370291.2_3'UTR	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	67								p.P67P(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGGACCCGTCAAGGAAG	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	108.0	108.0					X																	151909172		2203	4300	6503	SO:0001819	synonymous_variant	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.201C>A	X.37:g.151909172C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NE22	Silent	SNP	ENST00000370287.3	37	CCDS14711.1																																																																																				0.532	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2		NM_153479	
CYP27C1	339761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	127961091	127961091	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:127961091G>C	ENST00000335247.7	-	2	165	c.35C>G	c.(34-36)cCg>cGg	p.P12R	CYP27C1_ENST00000409327.1_Missense_Mutation_p.P12R	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	12						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.P12R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CACATCTTTCGGTTTCAGAAT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											146.0	148.0	147.0					2																	127961091		2203	4300	6503	SO:0001583	missense	339761			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.35C>G	2.37:g.127961091G>C	ENSP00000334128:p.Pro12Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504954	0.44558	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69040	-0.37;-0.37	4.23	3.35	0.38373	.	0.137305	0.49916	D	0.000131	D	0.83261	0.5216	M	0.90542	3.125	0.49130	D	0.999757	D	0.89917	1.0	D	0.91635	0.999	D	0.85375	0.1116	10	0.87932	D	0	0.0663	11.7751	0.51981	0.0872:0.0:0.9128:0.0	.	12	Q4G0S4	C27C1_HUMAN	R	12	ENSP00000334128:P12R;ENSP00000387198:P12R	ENSP00000334128:P12R	P	-	2	0	CYP27C1	127677561	1.000000	0.71417	0.345000	0.25642	0.341000	0.28922	6.076000	0.71267	0.781000	0.33589	0.491000	0.48974	CCG		0.413	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1		NM_001001665	
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu	37	1	47399695	47399695	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:47399695A>G	ENST00000310638.4	-	9	1176	c.1145T>C	c.(1144-1146)cTc>cCc	p.L382P	CYP4A11_ENST00000371905.1_Missense_Mutation_p.L382P|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L284P|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L383P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	382					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.L382P(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CGGTGGGTAGAGCCTCAGTGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											97.0	79.0	85.0					1																	47399695		2203	4300	6503	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1145T>C	1.37:g.47399695A>G	ENSP00000311095:p.Leu382Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	17.64	3.440188	0.63067	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.74737	-0.87;-0.87;-0.87	5.17	4.01	0.46588	.	0.320753	0.33534	N	0.004815	D	0.89719	0.6796	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.91156	0.4957	10	0.87932	D	0	.	11.2702	0.49133	0.9265:0.0:0.0735:0.0	.	382	Q02928	CP4AB_HUMAN	P	382;383;382	ENSP00000311095:L382P;ENSP00000360971:L383P;ENSP00000360972:L382P	ENSP00000311095:L382P	L	-	2	0	CYP4A11	47172282	0.950000	0.32346	0.299000	0.25016	0.765000	0.43378	7.364000	0.79526	0.879000	0.35944	0.528000	0.53228	CTC		0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778	
DNAJB11	51726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186299285	186299285	+	Silent	SNP	C	C	T	rs138789127		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:186299285C>T	ENST00000439351.1	+	6	1511	c.582C>T	c.(580-582)gaC>gaT	p.D194D	DNAJB11_ENST00000265028.3_Silent_p.D194D			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D194D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGTCTGCGACGAATGCCCTA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	82.0	84.0	83.0		582	-3.5	1.0	3	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	DNAJB11	NM_016306.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		194/359	186299285	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.582C>T	3.37:g.186299285C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	CCDS3277.1																																																																																				0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			
DNAJC15	29103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	43652822	43652822	+	Silent	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:43652822A>T	ENST00000379221.2	+	4	733	c.309A>T	c.(307-309)gtA>gtT	p.V103V	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V103V(2)		endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTTTAGGTGTAAGGTAGGTGT	0.343																																																	2	Substitution - coding silent(2)	kidney(2)											188.0	162.0	171.0					13																	43652822		2203	4300	6503	SO:0001819	synonymous_variant	29103			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.309A>T	13.37:g.43652822A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4L0|Q5T219|Q6X963	Silent	SNP	ENST00000379221.2	37	CCDS9388.1																																																																																				0.343	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2		NM_013238	
EME2	197342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1825398	1825398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:1825398G>T	ENST00000568449.1	+	5	673	c.652G>T	c.(652-654)Gag>Tag	p.E218*	EME2_ENST00000307394.7_Nonsense_Mutation_p.E262*|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	218					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.E262*(1)|p.G277V(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGCTGGCCGGAGGTGGAAGA	0.657								Direct reversal of damage;Homologous recombination																																									2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)											77.0	85.0	83.0					16																	1825398		2187	4299	6486	SO:0001587	stop_gained	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.652G>T	16.37:g.1825398G>T	ENSP00000457353:p.Glu218*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TEP2|Q96RY3	Nonsense_Mutation	SNP	ENST00000568449.1	37	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183363	0.57800	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.64	0.954	0.19595	.	0.635376	0.14198	N	0.334884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-5.8683	8.9717	0.35910	0.0936:0.3417:0.5647:0.0	.	.	.	.	X	262;218	.	ENSP00000303779:E262X	E	+	1	0	EME2	1765399	0.087000	0.21565	0.038000	0.18304	0.071000	0.16799	0.329000	0.19698	-0.252000	0.09528	-1.268000	0.01426	GAG		0.657	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2		NM_001010865	
EP300	2033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41574358	41574358	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:41574358C>A	ENST00000263253.7	+	31	7862	c.6643C>A	c.(6643-6645)Caa>Aaa	p.Q2215K	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2215	Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q2215K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGCAACCCCAAGGAGTTGG	0.552			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	kidney(1)											56.0	56.0	56.0					22																	41574358		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6643C>A	22.37:g.41574358C>A	ENSP00000263253:p.Gln2215Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981965	0.34942	.	.	ENSG00000100393	ENST00000263253	D	0.84223	-1.82	5.5	5.5	0.81552	.	0.148708	0.30464	N	0.009576	D	0.83529	0.5274	L	0.50333	1.59	0.36048	D	0.84055	B	0.23316	0.083	B	0.24848	0.056	T	0.82432	-0.0460	10	0.39692	T	0.17	-6.2778	19.3945	0.94601	0.0:1.0:0.0:0.0	.	2215	Q09472	EP300_HUMAN	K	2215	ENSP00000263253:Q2215K	ENSP00000263253:Q2215K	Q	+	1	0	EP300	39904304	0.101000	0.21875	1.000000	0.80357	0.981000	0.71138	1.591000	0.36665	2.581000	0.87130	0.655000	0.94253	CAA		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429	
ERBB2	2064	hgsc.bcm.edu;ucsc.edu	37	17	37871549	37871550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:37871549_37871550insC	ENST00000269571.5	+	10	1318_1319	c.1159_1160insC	c.(1159-1161)tccfs	p.S387fs	ERBB2_ENST00000540042.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000584450.1_Frame_Shift_Ins_p.S387fs|ERBB2_ENST00000540147.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000584601.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000406381.2_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000541774.1_Frame_Shift_Ins_p.S372fs|ERBB2_ENST00000445658.2_Frame_Shift_Ins_p.S111fs|ERBB2_ENST00000578199.1_Frame_Shift_Ins_p.S357fs			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	387					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGACCCAGCCTCCAACACTGCC	0.619		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0																																										SO:0001589	frameshift_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1161dupC	17.37:g.37871551_37871551dupC	ENSP00000269571:p.Ser387fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Frame_Shift_Ins	INS	ENST00000269571.5	37	CCDS32642.1																																																																																				0.619	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			
FAM155A	728215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	108518168	108518168	+	Silent	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:108518168G>T	ENST00000375915.2	-	1	915	c.777C>A	c.(775-777)acC>acA	p.T259T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	259						integral component of membrane (GO:0016021)		p.T259T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCCTGCAAGTGGTCATCTCGC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	126.0	132.0					13																	108518168		2203	4300	6503	SO:0001819	synonymous_variant	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.777C>A	13.37:g.108518168G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	CCDS32006.1																																																																																				0.507	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396	
FAT1	2195	broad.mit.edu;hgsc.bcm.edu	37	4	187535488	187535488	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:187535488G>A	ENST00000441802.2	-	12	9295	c.9086C>T	c.(9085-9087)tCa>tTa	p.S3029L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3029	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3029L(1)|p.S3032L(1)|p.S3029*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGTGTCTGAATATAAAGT	0.373										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(2)|upper_aerodigestive_tract(1)											78.0	75.0	76.0					4																	187535488		1863	4100	5963	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9086C>T	4.37:g.187535488G>A	ENSP00000406229:p.Ser3029Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564644	0.45694	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02631	4.22	4.73	4.73	0.59995	Cadherin (2);Cadherin-like (1);	0.368557	0.29266	N	0.012652	T	0.04998	0.0134	L	0.53729	1.69	0.37477	D	0.91584	B	0.33448	0.412	B	0.33799	0.17	T	0.50423	-0.8830	10	0.25106	T	0.35	.	17.9002	0.88901	0.0:0.0:1.0:0.0	.	3029	Q14517	FAT1_HUMAN	L	3029;3031	ENSP00000406229:S3029L	ENSP00000260147:S3031L	S	-	2	0	FAT1	187772482	1.000000	0.71417	0.963000	0.40424	0.576000	0.36127	4.801000	0.62532	2.470000	0.83445	0.455000	0.32223	TCA		0.373	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245	
G3BP1	10146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151166245	151166245	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:151166245C>T	ENST00000394123.3	+	2	209	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	G3BP1_ENST00000356245.3_Silent_p.L22L|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	22	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L22L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTATTACACACTGCTGAACCA	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											135.0	127.0	130.0					5																	151166245		2203	4300	6503	SO:0001819	synonymous_variant	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.64C>T	5.37:g.151166245C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYE9	Silent	SNP	ENST00000394123.3	37	CCDS4319.1																																																																																				0.463	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1		NM_005754	
HBG1	3047	hgsc.bcm.edu	37	11	5271024	5271024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:5271024delA	ENST00000330597.3	-	1	98	c.11delT	c.(10-12)ttcfs	p.F4fs		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	4					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTGTGAAATGACCCAT	0.512											OREG0003735	type=REGULATORY REGION|Gene=HBG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Ovarian(117;2080 2193 33416 49679)												0													1.0	1.0	1.0					11																	5271024		254	744	998	SO:0001589	frameshift_variant	3047			M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.11delT	11.37:g.5271024delA	ENSP00000327431:p.Phe4fs	Somatic	625	WXS	Illumina HiSeq	Phase_I	P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Frame_Shift_Del	DEL	ENST00000330597.3	37	CCDS7754.1																																																																																				0.512	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142982.1		NM_000559	
HBG2	3048	hgsc.bcm.edu	37	11	5275948	5275948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:5275948delA	ENST00000380259.2	-	6	1251	c.11delT	c.(10-12)ttcfs	p.F4fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000336906.4_Frame_Shift_Del_p.F4fs			P69892	HBG2_HUMAN	hemoglobin, gamma G	4					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTGTGAAATGACCCAT	0.512																																																	0													2.0	2.0	2.0					11																	5275948		1008	2237	3245	SO:0001589	frameshift_variant	3048			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.11delT	11.37:g.5275948delA	ENSP00000369609:p.Phe4fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Frame_Shift_Del	DEL	ENST00000380259.2	37	CCDS7755.1																																																																																				0.512	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2		NM_000184	
GAS2	2620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22707336	22707336	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:22707336G>C	ENST00000454584.2	+	3	572		c.e3+1		GAS2_ENST00000278187.3_Splice_Site|RNA5SP338_ENST00000410495.1_RNA|GAS2_ENST00000433790.1_Splice_Site|GAS2_ENST00000533092.1_Splice_Site	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCCCACAAAGGTAAAAGATCC	0.358																																																	1	Unknown(1)	kidney(1)											67.0	62.0	63.0					11																	22707336		2203	4300	6503	SO:0001630	splice_region_variant	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.267+1G>C	11.37:g.22707336G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809363	0.70797	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7587	0.88457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS2	22663912	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.334000	0.79224	2.711000	0.92665	0.655000	0.94253	.		0.358	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1		NM_177553	Intron
IARS	3376	broad.mit.edu;ucsc.edu	37	9	95027315	95027315	+	Silent	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:95027315G>A	ENST00000375643.3	-	16	1862	c.1596C>T	c.(1594-1596)agC>agT	p.S532S	IARS_ENST00000447699.2_Silent_p.S422S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.S532S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	532					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S532S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATAGGGCATGCTGCCACTCT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	71.0	77.0					9																	95027315		2203	4300	6503	SO:0001819	synonymous_variant	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1596C>T	9.37:g.95027315G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	CCDS6694.1																																																																																				0.493	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2		NM_002161	
IFT172	26160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27704017	27704017	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:27704017G>T	ENST00000260570.3	-	8	784	c.681C>A	c.(679-681)caC>caA	p.H227Q	IFT172_ENST00000359466.6_Missense_Mutation_p.H227Q|IFT172_ENST00000416524.2_Missense_Mutation_p.H206Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	227					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.H227Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGTAGCATGTGACCTTCTT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											78.0	70.0	73.0					2																	27704017		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.681C>A	2.37:g.27704017G>T	ENSP00000260570:p.His227Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665172	0.00765	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.63417	-0.04;-0.04;1.7	5.72	-11.4	0.00090	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.297295	0.41001	N	0.000978	T	0.26340	0.0643	N	0.02916	-0.46	0.23896	N	0.996533	B;B;B;B	0.12013	0.0;0.001;0.0;0.005	B;B;B;B	0.16289	0.0;0.015;0.002;0.005	T	0.16100	-1.0414	10	0.44086	T	0.13	-7.0708	10.5746	0.45219	0.6313:0.0:0.1564:0.2123	.	227;227;227;227	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	Q	227;227;206	ENSP00000260570:H227Q;ENSP00000352443:H227Q;ENSP00000407408:H206Q	ENSP00000260570:H227Q	H	-	3	2	IFT172	27557521	0.000000	0.05858	0.039000	0.18376	0.088000	0.18126	-4.999000	0.00161	-3.266000	0.00200	-0.384000	0.06662	CAC		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662	
IMPG1	3617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76715159	76715159	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:76715159G>A	ENST00000369950.3	-	10	1169	c.980C>T	c.(979-981)tCc>tTc	p.S327F	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S327F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATTTTGTTGGAATCAAAAGA	0.453																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	kidney(1)											153.0	139.0	144.0					6																	76715159		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.980C>T	6.37:g.76715159G>A	ENSP00000358966:p.Ser327Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901147	0.52227	.	.	ENSG00000112706	ENST00000369950	T	0.36699	1.24	5.82	4.93	0.64822	SEA (2);	0.000000	0.64402	D	0.000006	T	0.33614	0.0869	M	0.75777	2.31	0.80722	D	1	B	0.30664	0.289	B	0.40477	0.33	T	0.24083	-1.0170	10	0.44086	T	0.13	.	14.0544	0.64759	0.0:0.0:0.8489:0.1511	.	327	Q17R60	IMPG1_HUMAN	F	327	ENSP00000358966:S327F	ENSP00000358966:S327F	S	-	2	0	IMPG1	76771879	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.967000	0.40491	1.411000	0.46957	0.585000	0.79938	TCC		0.453	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1		NM_001563	
INPP4A	3631	hgsc.bcm.edu;ucsc.edu	37	2	99156037	99156037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:99156037delT	ENST00000523221.1	+	8	717	c.717delT	c.(715-717)gatfs	p.D239fs	INPP4A_ENST00000074304.5_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Frame_Shift_Del_p.D239fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	239					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAACCACTGATGGTAACCATT	0.577																																																	0													124.0	119.0	121.0					2																	99156037		2101	4243	6344	SO:0001589	frameshift_variant	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.717delT	2.37:g.99156037delT	ENSP00000427722:p.Asp239fs	Somatic		WXS	Illumina HiSeq	Phase_I	O15326|Q13187|Q53TD8|Q8TC02	Frame_Shift_Del	DEL	ENST00000523221.1	37	CCDS46369.1																																																																																				0.577	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1		NM_001566	
ITM2B	9445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	48830433	48830438	+	In_Frame_Del	DEL	GAAGAA	GAAGAA	-	rs370484810		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	GAAGAA	GAAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:48830433_48830438delGAAGAA	ENST00000378565.5	+	3	570_575	c.367_372delGAAGAA	c.(367-372)gaagaadel	p.EE125del	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	125	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TAAAATCTTTGAAGAAGAAGAAGTTG	0.398																																																	0																																										SO:0001651	inframe_deletion	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.367_372delGAAGAA	13.37:g.48830439_48830444delGAAGAA	ENSP00000367828:p.Glu125_Glu126del	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0A3|Q96B24|Q9NYH1	In_Frame_Del	DEL	ENST00000378565.5	37	CCDS9409.1																																																																																				0.398	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3		NM_021999	
JAK1	3716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65344794	65344794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:65344794A>T	ENST00000342505.4	-	4	491	c.243T>A	c.(241-243)taT>taA	p.Y81*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	81	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y81*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGTTCTCGTCATACAGGGCAA	0.463			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - Nonsense(1)	kidney(1)											138.0	133.0	135.0					1																	65344794		1995	4169	6164	SO:0001587	stop_gained	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.243T>A	1.37:g.65344794A>T	ENSP00000343204:p.Tyr81*	Somatic		WXS	Illumina HiSeq	Phase_I	Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	37	6.007534	0.97195	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.06	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4504	12.2556	0.54621	0.5318:0.0:0.4682:0.0	.	.	.	.	X	81	.	ENSP00000343204:Y81X	Y	-	3	2	JAK1	65117382	0.926000	0.31397	0.984000	0.44739	0.586000	0.36452	0.091000	0.15046	-0.414000	0.07495	0.533000	0.62120	TAT		0.463	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		NM_002227	
IST1	9798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71961673	71961673	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:71961673A>G	ENST00000378799.6	+	10	1414	c.1058A>G	c.(1057-1059)gAt>gGt	p.D353G	RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538850.1_Missense_Mutation_p.D205G|IST1_ENST00000538565.1_3'UTR|RP11-498D10.6_ENST00000573861.1_RNA|IST1_ENST00000535424.1_Missense_Mutation_p.D366G|IST1_ENST00000544564.1_Missense_Mutation_p.D353G|PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.D353G|IST1_ENST00000606369.1_Missense_Mutation_p.D205G|IST1_ENST00000378798.5_Missense_Mutation_p.D322G|IST1_ENST00000329908.8_Missense_Mutation_p.M352V			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	351	Interaction with VPS4A, VTA1, MITD1 STAMBP and USP8.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.M352V(1)									ATTGACTTTGATGATCTTTCC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											173.0	179.0	177.0					16																	71961673		2198	4300	6498	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.1058A>G	16.37:g.71961673A>G	ENSP00000368076:p.Asp353Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.3|23.3|23.3	4.396422|4.396422|4.396422	0.83011|0.83011|0.83011	.|.|.	.|.|.	ENSG00000182149|ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798;ENST00000456820|ENST00000329908|ENST00000541848	.|.|.	.|.|.	.|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.71753|0.71753|.	0.3377|0.3377|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|B|.	0.65815|0.30146|.	0.991;0.995;0.993|0.27|.	P;P;P|B|.	0.62089|0.31337|.	0.793;0.898;0.842|0.128|.	T|T|.	0.71108|0.71108|.	-0.4688|-0.4688|.	8|7|.	0.87932|0.87932|.	D|D|.	0|0|.	-16.9082|-16.9082|-16.9082	15.7919|15.7919|15.7919	0.78372|0.78372|0.78372	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	351;322;366|352|.	P53990;P53990-2;A8KAH5|P53990-3|.	IST1_HUMAN;.;.|.|.	G|V|W	366;353;342;205;322;276|352|207	.|.|.	ENSP00000368075:D322G|ENSP00000330408:M352V|.	D|M|X	+|+|+	2|1|3	0|0|0	KIAA0174|KIAA0174|KIAA0174	70519174|70519174|70519174	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	8.861000|8.861000|8.861000	0.92277|0.92277|0.92277	2.190000|2.190000|2.190000	0.69967|0.69967|0.69967	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAT|ATG|TGA		0.453	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2		NM_014761	
KIF18A	81930	broad.mit.edu;ucsc.edu	37	11	28045366	28045366	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:28045366C>T	ENST00000263181.6	-	16	2826	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	846					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.V846I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAGAATTTACGTCTGCAGTT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											131.0	118.0	123.0					11																	28045366		2201	4299	6500	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2536G>A	11.37:g.28045366C>T	ENSP00000263181:p.Val846Ile	Somatic		WXS	Illumina GAIIx	Phase_I	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	0.655	-0.808154	0.02819	.	.	ENSG00000121621	ENST00000263181	T	0.72167	-0.63	5.42	0.839	0.18907	.	1.607670	0.03335	N	0.193980	T	0.55513	0.1925	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.17098	0.017	T	0.40440	-0.9563	10	0.35671	T	0.21	.	5.3447	0.16002	0.1289:0.6138:0.1706:0.0867	.	846	Q8NI77	KI18A_HUMAN	I	846	ENSP00000263181:V846I	ENSP00000263181:V846I	V	-	1	0	KIF18A	28001942	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.215000	0.17562	0.339000	0.23719	-1.332000	0.01269	GTA		0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217	
KPRP	448834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152732829	152732829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:152732829C>A	ENST00000606109.1	+	1	793	c.765C>A	c.(763-765)tgC>tgA	p.C255*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.C255*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	255						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C255*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCAGATGCCTTCCTCCTC	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											47.0	53.0	51.0					1																	152732829		2203	4300	6503	SO:0001587	stop_gained	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.765C>A	1.37:g.152732829C>A	ENSP00000475216:p.Cys255*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517999	0.64634	.	.	ENSG00000203786	ENST00000368773	.	.	.	5.46	4.55	0.56014	.	0.000000	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9127	10.2755	0.43507	0.0:0.9088:0.0:0.0912	.	.	.	.	X	255	.	ENSP00000357762:C255X	C	+	3	2	KPRP	150999453	0.996000	0.38824	0.947000	0.38551	0.101000	0.19017	0.730000	0.26043	1.450000	0.47717	0.655000	0.94253	TGC		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2		NM_001025231	
LIMD1	8994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45637344	45637344	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:45637344G>C	ENST00000273317.4	+	1	994	c.973G>C	c.(973-975)Gtg>Ctg	p.V325L	LIMD1_ENST00000440097.1_Missense_Mutation_p.V325L|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	325					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V325L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGTTTCAGGTGTGATGTCCAA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											79.0	81.0	80.0					3																	45637344		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.973G>C	3.37:g.45637344G>C	ENSP00000273317:p.Val325Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	0.700	-0.791310	0.02884	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56776	0.44;0.63	4.79	-2.38	0.06622	.	4.180590	0.00357	N	0.000028	T	0.30448	0.0765	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17837	-1.0356	10	0.07482	T	0.82	.	5.747	0.18126	0.4379:0.1382:0.424:0.0	.	325	Q9UGP4	LIMD1_HUMAN	L	325	ENSP00000394537:V325L;ENSP00000273317:V325L	ENSP00000273317:V325L	V	+	1	0	LIMD1	45612348	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.810000	0.04505	-0.568000	0.06038	0.655000	0.94253	GTG		0.602	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1		NM_014240	
LMAN1L	79748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75108801	75108801	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:75108801G>A	ENST00000309664.5	+	3	503	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G122S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	122	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G122S(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCATGTAGGCTCTGTCCT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											67.0	70.0	69.0					15																	75108801		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.364G>A	15.37:g.75108801G>A	ENSP00000310431:p.Gly122Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690315	0.48097	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.72167	-0.63;-0.63	5.39	-0.948	0.10379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.394579	0.26013	N	0.026876	T	0.66684	0.2814	M	0.71581	2.175	0.27014	N	0.964625	P;P;P	0.45827	0.839;0.867;0.827	B;B;P	0.46452	0.287;0.411;0.517	T	0.61451	-0.7060	10	0.56958	D	0.05	.	4.4966	0.11840	0.4108:0.0:0.4443:0.145	.	122;50;122	Q9HAT1-3;B4DU67;Q9HAT1	.;.;LMA1L_HUMAN	S	122	ENSP00000310431:G122S;ENSP00000369031:G122S	ENSP00000310431:G122S	G	+	1	0	LMAN1L	72895854	0.094000	0.21725	0.001000	0.08648	0.120000	0.20174	0.271000	0.18626	-0.464000	0.06963	0.484000	0.47621	GGC		0.657	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57590881	57590881	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:57590881T>A	ENST00000243077.3	+	56	9475	c.9009T>A	c.(9007-9009)taT>taA	p.Y3003*	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3003	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.Y3003*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGCAGCTATAAGTGTCTGT	0.637																																																	1	Substitution - Nonsense(1)	kidney(1)											97.0	93.0	94.0					12																	57590881		2203	4300	6503	SO:0001587	stop_gained	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9009T>A	12.37:g.57590881T>A	ENSP00000243077:p.Tyr3003*	Somatic		WXS	Illumina HiSeq	Phase_I	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	53	20.367418	0.99930	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.34	4.45	0.53987	.	0.083615	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6191	0.56594	0.0:0.9187:0.0:0.0813	.	.	.	.	X	3003	.	ENSP00000243077:Y3003X	Y	+	3	2	LRP1	55877148	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.730000	0.62015	1.488000	0.48433	-0.385000	0.06624	TAT		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
LRP1B	53353	hgsc.bcm.edu;ucsc.edu	37	2	141812795	141812796	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:141812795_141812796delCC	ENST00000389484.3	-	10	2412_2413	c.1441_1442delGG	c.(1441-1443)ggafs	p.G481fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	481	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGGCATTCCATATGGATCG	0.446										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0																																										SO:0001589	frameshift_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1441_1442delGG	2.37:g.141812795_141812796delCC	ENSP00000374135:p.Gly481fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	CCDS2182.1																																																																																				0.446	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MAPT	4137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	44061288	44061288	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:44061288A>G	ENST00000571987.1	+	5	1118	c.1118A>G	c.(1117-1119)cAa>cGa	p.Q373R	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.Q373R|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.Q373R|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.Q373R			P10636	TAU_HUMAN	microtubule-associated protein tau	373					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.Q373R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGGGTCCCTCAACTCAAAGGT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											65.0	79.0	75.0					17																	44061288		2060	4031	6091	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1118A>G	17.37:g.44061288A>G	ENSP00000458742:p.Gln373Arg	Somatic		WXS	Illumina HiSeq	Phase_I	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394200	0.42410	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.29142	1.58;1.58;1.58	5.51	4.4	0.53042	.	0.000000	0.40385	N	0.001120	T	0.25975	0.0633	L	0.50333	1.59	0.80722	D	1	P;P	0.36048	0.467;0.534	B;B	0.35353	0.201;0.091	T	0.03121	-1.1070	10	0.30854	T	0.27	-10.7307	8.5614	0.33514	0.8284:0.0:0.0:0.1716	.	373;373	P10636-9;P10636	.;TAU_HUMAN	R	373	ENSP00000340820:Q373R;ENSP00000262410:Q373R;ENSP00000410838:Q373R	ENSP00000262410:Q373R	Q	+	2	0	MAPT	41417125	0.999000	0.42202	1.000000	0.80357	0.811000	0.45836	2.818000	0.48041	0.877000	0.35895	0.418000	0.28097	CAA		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835	
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60129921	60129921	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:60129921T>C	ENST00000397786.2	-	3	523	c.447A>G	c.(445-447)aaA>aaG	p.K149K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	149					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K149K(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTTTTCATCTTTTTCATAAG	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	114.0	115.0					17																	60129921		1808	4077	5885	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.447A>G	17.37:g.60129921T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																				0.323	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
MGAM	8972	hgsc.bcm.edu	37	7	141760115	141760115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:141760115delG	ENST00000549489.2	+	34	4159	c.4064delG	c.(4063-4065)tggfs	p.W1355fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.W1355fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1355	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCATAGGTCTGGCCTGATTTT	0.428																																																	0													286.0	241.0	256.0					7																	141760115		2058	4206	6264	SO:0001589	frameshift_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4064delG	7.37:g.141760115delG	ENSP00000447378:p.Trp1355fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	CCDS47727.1																																																																																				0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			
MKKS	8195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10393730	10393730	+	Missense_Mutation	SNP	T	T	C	rs113994195		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:10393730T>C	ENST00000347364.3	-	3	1195	c.433A>G	c.(433-435)Agt>Ggt	p.S145G	MKKS_ENST00000399054.2_Missense_Mutation_p.S145G	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	145					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.S145G(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGAGTACTACTAAAGTCCACT	0.413																																					Melanoma(79;1979 2212 6640)												1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					20																	10393730		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.433A>G	20.37:g.10393730T>C	ENSP00000246062:p.Ser145Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	1.835	-0.468982	0.04445	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.79940	-1.32;-1.32	5.63	2.05	0.26809	.	0.249632	0.52532	N	0.000079	T	0.69133	0.3077	L	0.39566	1.225	0.26911	N	0.966883	B	0.19817	0.039	B	0.20955	0.032	T	0.56878	-0.7906	10	0.37606	T	0.19	-24.2285	7.2808	0.26310	0.0:0.129:0.122:0.749	.	145	Q9NPJ1	MKKS_HUMAN	G	145	ENSP00000246062:S145G;ENSP00000382008:S145G	ENSP00000246062:S145G	S	-	1	0	MKKS	10341730	0.818000	0.29161	0.000000	0.03702	0.004000	0.04260	0.717000	0.25851	0.129000	0.18514	-1.505000	0.00955	AGT		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			
MYOC	4653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171605694	171605694	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:171605694G>A	ENST00000037502.6	-	3	957	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	296	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R296C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAAACCTGGCGGACATCCGTG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											88.0	78.0	81.0					1																	171605694		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.886C>T	1.37:g.171605694G>A	ENSP00000037502:p.Arg296Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795439	0.50208	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.85013	-1.93	5.76	5.76	0.90799	Olfactomedin-like (3);	0.183371	0.64402	D	0.000011	D	0.93485	0.7921	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.94114	0.7373	10	0.87932	D	0	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	238;296	B4DV44;Q99972	.;MYOC_HUMAN	C	296;249;229;296	ENSP00000037502:R296C	ENSP00000037502:R296C	R	-	1	0	MYOC	169872317	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	6.269000	0.72558	2.719000	0.93026	0.555000	0.69702	CGC		0.542	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2		NM_000261	
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41341626	41341626	+	Missense_Mutation	SNP	G	G	A	rs536512807		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:41341626G>A	ENST00000422280.1	+	8	961	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	NBR1_ENST00000589872.1_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000341165.6_Missense_Mutation_p.E168K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	168					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.E168K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGTGGTTAACGAAACGGTTGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											74.0	73.0	73.0					17																	41341626		1844	4091	5935	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.502G>A	17.37:g.41341626G>A	ENSP00000411250:p.Glu168Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615451	0.96649	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.57752	1.06;0.38;1.06;1.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.71543	-0.4561	10	0.46703	T	0.11	-15.7257	20.206	0.98277	0.0:0.0:1.0:0.0	.	147;168;168	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	K	168;147;168;168;168	ENSP00000411250:E168K;ENSP00000437545:E147K;ENSP00000343479:E168K;ENSP00000373963:E168K	ENSP00000343479:E168K	E	+	1	0	NBR1	38595152	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.238000	0.89809	2.785000	0.95823	0.655000	0.94253	GAA		0.393	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899	
NCOA4	8031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	51584968	51584968	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:51584968A>C	ENST00000443446.1	+	8	1296	c.1067A>C	c.(1066-1068)aAa>aCa	p.K356T	NCOA4_ENST00000452682.1_Missense_Mutation_p.K372T|NCOA4_ENST00000374087.4_Missense_Mutation_p.K356T|NCOA4_ENST00000430396.2_Missense_Mutation_p.K256T|NCOA4_ENST00000414907.2_Missense_Mutation_p.K190T|NCOA4_ENST00000374082.1_Missense_Mutation_p.K356T|NCOA4_ENST00000438493.1_Missense_Mutation_p.K372T|NCOA4_ENST00000344348.6_Missense_Mutation_p.K356T	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	356					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.K372T(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AACCAGCCCAAAGGTGTGGAG	0.473			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	kidney(1)											49.0	49.0	49.0					10																	51584968		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1067A>C	10.37:g.51584968A>C	ENSP00000390713:p.Lys356Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790981	0.50102	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	6.03	1.32	0.21799	.	0.356073	0.35805	N	0.002979	T	0.34948	0.0915	L	0.54323	1.7	0.29000	N	0.887532	B;B;B;B	0.29988	0.264;0.162;0.264;0.162	B;B;B;B	0.26693	0.072;0.05;0.05;0.05	T	0.17137	-1.0379	9	.	.	.	-8.8526	5.4941	0.16793	0.5908:0.1359:0.2733:0.0	.	256;372;372;356	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	T	372;372;256;356;190;356;356;356	ENSP00000405146:K372T;ENSP00000395465:K372T;ENSP00000393053:K256T;ENSP00000363200:K356T;ENSP00000411018:K190T;ENSP00000344552:K356T;ENSP00000363195:K356T;ENSP00000390713:K356T	.	K	+	2	0	NCOA4	51254974	0.895000	0.30542	0.999000	0.59377	0.996000	0.88848	0.531000	0.23052	0.203000	0.20529	0.533000	0.62120	AAA		0.473	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1		NM_005437	
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33329729	33329729	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:33329729A>G	ENST00000374796.2	-	12	6901	c.4331T>C	c.(4330-4332)gTc>gCc	p.V1444A	NCOA6_ENST00000359003.2_Missense_Mutation_p.V1444A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1444					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.V1444A(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGGGCAGGGACTGCTTTTAG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											89.0	78.0	81.0					20																	33329729		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4331T>C	20.37:g.33329729A>G	ENSP00000363929:p.Val1444Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017400	0.35606	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.32272	1.46;1.46	5.31	5.31	0.75309	.	0.347063	0.27214	N	0.020384	T	0.20047	0.0482	N	0.14661	0.345	0.28604	N	0.908982	B	0.06786	0.001	B	0.06405	0.002	T	0.07790	-1.0754	10	0.26408	T	0.33	-0.0539	15.4208	0.75009	1.0:0.0:0.0:0.0	.	1444	Q14686	NCOA6_HUMAN	A	1444	ENSP00000363929:V1444A;ENSP00000351894:V1444A	ENSP00000351894:V1444A	V	-	2	0	NCOA6	32793390	0.764000	0.28473	1.000000	0.80357	0.972000	0.66771	2.251000	0.43187	2.226000	0.72624	0.482000	0.46254	GTC		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
NOX4	50507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89223701	89223701	+	Silent	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:89223701A>G	ENST00000263317.4	-	2	316	c.78T>C	c.(76-78)aaT>aaC	p.N26N	NOX4_ENST00000375979.3_Silent_p.N26N|NOX4_ENST00000532825.1_Silent_p.N2N|NOX4_ENST00000393282.2_Silent_p.N26N|NOX4_ENST00000535633.1_Silent_p.N2N|NOX4_ENST00000413594.2_Silent_p.N47N|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000542487.1_Silent_p.N2N|NOX4_ENST00000531342.1_Silent_p.N26N|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000534731.1_Silent_p.N26N|NOX4_ENST00000343727.5_Silent_p.N2N|NOX4_ENST00000424319.1_Silent_p.N2N|NOX4_ENST00000527956.1_Silent_p.N2N|NOX4_ENST00000525196.1_Silent_p.N26N			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	26					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.N26N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAGCAGGACATTCATGGAGA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	120.0	121.0					11																	89223701		2201	4299	6500	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.78T>C	11.37:g.89223701A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																				0.388	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	
NUP210L	91181	hgsc.bcm.edu;ucsc.edu	37	1	154026805	154026807	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TAT	TAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:154026805_154026807delTAT	ENST00000368559.3	-	25	3451_3453	c.3380_3382delATA	c.(3379-3384)aatagg>agg	p.N1127del	NUP210L_ENST00000368553.1_In_Frame_Del_p.N60del|NUP210L_ENST00000271854.3_In_Frame_Del_p.N1127del	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1127					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGCCCCCTCCTATTAACAACAGC	0.453																																																	0																																										SO:0001651	inframe_deletion	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3380_3382delATA	1.37:g.154026805_154026807delTAT	ENSP00000357547:p.Asn1127del	Somatic		WXS	Illumina HiSeq	Phase_I	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Del	DEL	ENST00000368559.3	37	CCDS41399.1																																																																																				0.453	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308	
OPLAH	26873	hgsc.bcm.edu	37	8	145106939	145106940	+	Splice_Site	DEL	CC	CC	-	rs60949781		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr8:145106939_145106940delCC	ENST00000426825.1	-	26	3580_3581	c.3499_3500delGG	c.(3499-3501)ggc>c	p.G1167fs	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1167					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCCGAGCCCCCCGCCGCA	0.748														5008	1.0	1.0	1.0	5008	,	,		7120	1.0		1.0	False		,,,				2504	1.0																0										2721,11		1360,1,5						3.7	0.9		dbSNP_130	11	6356,8		3177,2,3	no	frameshift	OPLAH	NM_017570.3		4537,3,8	A1A1,A1R,RR		0.1257,0.4026,0.2089				9077,19				SO:0001630	splice_region_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3499-1GG>-	8.37:g.145106943_145106944delCC		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																					0.748	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017570	Frame_Shift_Del
ORMDL3	94103	broad.mit.edu;ucsc.edu	37	17	38079479	38079479	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:38079479G>T	ENST00000394169.1	-	5	1706	c.212C>A	c.(211-213)cCc>cAc	p.P71H	ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000579695.1_Missense_Mutation_p.P71H|ORMDL3_ENST00000304046.2_Missense_Mutation_p.P71H|ORMDL3_ENST00000584220.1_Missense_Mutation_p.P55H			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	71					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)		p.P71H(1)		endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GGTCTCAAAGGGTGTCCCCTT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											165.0	158.0	160.0					17																	38079479		2203	4300	6503	SO:0001583	missense	94103				CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.212C>A	17.37:g.38079479G>T	ENSP00000377724:p.Pro71His	Somatic		WXS	Illumina GAIIx	Phase_I	B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073252	0.94000	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90819	0.4707	9	0.87932	D	0	-27.44	19.1554	0.93507	0.0:0.0:1.0:0.0	.	71	Q8N138	ORML3_HUMAN	H	71	.	ENSP00000304858:P71H	P	-	2	0	ORMDL3	35333005	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.869000	0.99810	2.528000	0.85240	0.655000	0.94253	CCC		0.567	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1		NM_139280	
PAN3	255967	broad.mit.edu;hgsc.bcm.edu	37	13	28750663	28750663	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:28750663C>G	ENST00000380958.3	+	3	738	c.586C>G	c.(586-588)Cta>Gta	p.L196V	PAN3_ENST00000399613.1_Missense_Mutation_p.L50V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.L196V(1)|p.L50V(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CCCAAGCCTTCTAAATGACAG	0.338																																																	2	Substitution - Missense(2)	kidney(2)											120.0	116.0	117.0					13																	28750663		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.586C>G	13.37:g.28750663C>G	ENSP00000370345:p.Leu196Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405394	0.83230	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.64438	-0.1;0.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;D;D	0.77557	0.99;0.969;0.953	T	0.74411	-0.3674	10	0.72032	D	0.01	-9.9635	19.5697	0.95407	0.0:1.0:0.0:0.0	.	196;196;196	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	V	196;50	ENSP00000370345:L196V;ENSP00000382522:L50V	ENSP00000370345:L196V	L	+	1	2	PAN3	27648663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.615000	0.54167	2.631000	0.89168	0.655000	0.94253	CTA		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4		NM_175854	
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798209	140798209	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:140798209C>T	ENST00000398594.2	+	1	783	c.783C>T	c.(781-783)atC>atT	p.I261I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	261	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I261I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTCCATCCTGAGAGTGA	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	65.0	64.0					5																	140798209		2041	4195	6236	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.783C>T	5.37:g.140798209C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																				0.532	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927	
PCDHGA12	26025	broad.mit.edu;ucsc.edu	37	5	140890569	140890569	+	Silent	SNP	C	C	T	rs143630962		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:140890569C>T	ENST00000252085.3	+	4	2770	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	PCDHGA3_ENST00000253812.6_Silent_p.S876S|PCDHGB2_ENST00000522605.1_Silent_p.S875S|PCDHGA1_ENST00000517417.1_Silent_p.S875S|PCDHGA4_ENST00000571252.1_Silent_p.S875S|PCDHGA5_ENST00000518069.1_Silent_p.S875S|PCDHGC4_ENST00000306593.1_Silent_p.S882S|PCDHGB3_ENST00000576222.1_Silent_p.S873S|PCDHGA6_ENST00000517434.1_Silent_p.S876S|PCDHGA8_ENST00000398604.2_Silent_p.S876S|PCDHGA7_ENST00000518325.1_Silent_p.S876S|PCDHGC3_ENST00000308177.3_Silent_p.S878S|PCDHGA2_ENST00000394576.2_Silent_p.S876S|PCDHGB4_ENST00000519479.1_Silent_p.S867S|PCDHGC5_ENST00000252087.1_Silent_p.S888S|PCDHGA11_ENST00000518882.1_Silent_p.S694S|PCDHGB7_ENST00000398594.2_Silent_p.S873S|PCDHGA10_ENST00000398610.2_Silent_p.S880S|PCDHGA9_ENST00000573521.1_Silent_p.S876S|PCDHGB6_ENST00000520790.1_Silent_p.S874S|PCDHGA11_ENST00000398587.2_Silent_p.S879S|PCDHGB1_ENST00000523390.1_Silent_p.S871S	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	876					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S876S(18)|p.S875S(14)|p.S873S(6)|p.S878S(4)|p.S871S(4)|p.S888S(4)|p.S867S(2)|p.S879S(2)|p.S882S(2)|p.S880S(2)|p.S874S(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATTGAGCGCCCGCTACG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17716	0.0		0.0	False		,,,				2504	0.0																60	Substitution - coding silent(60)	kidney(30)|endometrium(30)						C	,,,,,,,,,,,,,,,,,,,,,,,	0,4406		0,0,2203	92.0	98.0	96.0		2634,2628,2601,2625,2640,2637,2628,2628,2625,2625,2628,2628,2628,2613,2625,2619,2601,2622,2619,2646,2664,2628,2082,234	-0.0	1.0	5	dbSNP_134	96	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,,,,,,,,,,,,,,,,,,,	878/935,876/933,867/924,875/932,880/937,879/936,876/933,876/933,875/932,875/932,876/933,876/933,876/933,871/928,875/932,873/930,867/924,874/931,873/930,882/939,888/945,876/933,694/751,78/135	140890569	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56097			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2628C>T	5.37:g.140890569C>T		Somatic		WXS	Illumina GAIIx	Phase_I	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																				0.617	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2		NM_003735	
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71444679	71444679	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr14:71444679T>A	ENST00000304743.2	+	6	2071	c.1625T>A	c.(1624-1626)gTt>gAt	p.V542D	PCNX_ENST00000238570.5_Missense_Mutation_p.V542D|PCNX_ENST00000439984.3_Missense_Mutation_p.V542D	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	542						integral component of membrane (GO:0016021)		p.V542D(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGGGGATGTTCGACCTAAA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											108.0	111.0	110.0					14																	71444679		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1625T>A	14.37:g.71444679T>A	ENSP00000304192:p.Val542Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226676	0.22542	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.18657	3.04;2.98;2.2	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.28234	0.0697	L	0.27053	0.805	0.80722	D	1	D;D;D	0.63880	0.988;0.988;0.993	P;P;P	0.59424	0.723;0.723;0.857	T	0.03493	-1.1031	10	0.14656	T	0.56	.	16.2559	0.82517	0.0:0.0:0.0:1.0	.	542;542;542	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	D	542	ENSP00000304192:V542D;ENSP00000238570:V542D;ENSP00000396617:V542D	ENSP00000238570:V542D	V	+	2	0	PCNX	70514432	1.000000	0.71417	0.749000	0.31150	0.123000	0.20343	4.463000	0.60128	2.239000	0.73571	0.528000	0.53228	GTT		0.453	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982	
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68457098	68457098	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:68457098A>G	ENST00000249636.6	+	8	1112	c.964A>G	c.(964-966)Agt>Ggt	p.S322G	PIAS1_ENST00000545237.1_Missense_Mutation_p.S324G	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	322					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S322G(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGATCCAGACAGTGAAATAGC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											71.0	72.0	72.0					15																	68457098		1813	4075	5888	SO:0001583	missense	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.964A>G	15.37:g.68457098A>G	ENSP00000249636:p.Ser322Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654089	0.88056	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.35973	1.28;1.28	5.34	5.34	0.76211	Zinc finger, MIZ-type (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.78801	2.425	0.80722	D	1	P	0.37663	0.604	B	0.40825	0.341	T	0.53858	-0.8379	10	0.72032	D	0.01	-10.2961	15.6155	0.76764	1.0:0.0:0.0:0.0	.	322	O75925	PIAS1_HUMAN	G	322;324	ENSP00000249636:S322G;ENSP00000438574:S324G	ENSP00000249636:S322G	S	+	1	0	PIAS1	66244152	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.283000	0.95860	2.142000	0.66516	0.477000	0.44152	AGT		0.333	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95791726	95791726	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:95791726A>G	ENST00000371380.3	+	1	1158	c.923A>G	c.(922-924)gAt>gGt	p.D308G	PLCE1_ENST00000260766.3_Missense_Mutation_p.D308G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	308					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D308G(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAATTGTGATGATGTAGAA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											128.0	124.0	125.0					10																	95791726		1860	4085	5945	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.923A>G	10.37:g.95791726A>G	ENSP00000360431:p.Asp308Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378687	0.24944	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.32515	1.45;1.45	5.28	5.28	0.74379	Ras guanine nucleotide exchange factor, domain (1);	0.435832	0.19403	N	0.115132	T	0.13329	0.0323	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09079	-1.0691	10	0.40728	T	0.16	.	6.6586	0.23000	0.7674:0.1553:0.0773:0.0	.	308;308	B7ZM61;Q9P212	.;PLCE1_HUMAN	G	308	ENSP00000260766:D308G;ENSP00000360431:D308G	ENSP00000260766:D308G	D	+	2	0	PLCE1	95781716	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.782000	0.62396	2.008000	0.58898	0.533000	0.62120	GAT		0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341	
POLM	27434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44113448	44113448	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:44113448T>C	ENST00000242248.5	-	9	1349	c.1248A>G	c.(1246-1248)agA>agG	p.R416R	POLM_ENST00000395831.3_Silent_p.R336R|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Silent_p.R379R	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	416					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R416R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAAGTCCACTCTCACGGCCT	0.627								DNA polymerases (catalytic subunits)																																									1	Substitution - coding silent(1)	kidney(1)											58.0	67.0	64.0					7																	44113448		2203	4300	6503	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1248A>G	7.37:g.44113448T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1		NM_013284	
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57185282	57185282	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:57185282T>A	ENST00000607273.1	+	3	269	c.182T>A	c.(181-183)gTg>gAg	p.V61E	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	61					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.V61E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATCTTGGAGTGAGCTATGTG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											55.0	53.0	54.0					6																	57185282		1809	4073	5882	SO:0001583	missense	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.182T>A	6.37:g.57185282T>A	ENSP00000475738:p.Val61Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.323	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000947	
PRODH2	58510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36303397	36303397	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:36303397G>T	ENST00000301175.3	-	3	481	c.464C>A	c.(463-465)tCc>tAc	p.S155Y		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	155					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.S155Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATAGACGGATGCTCGGAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											30.0	33.0	32.0					19																	36303397		2203	4300	6503	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.464C>A	19.37:g.36303397G>T	ENSP00000301175:p.Ser155Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252250	0.59212	.	.	ENSG00000250799	ENST00000301175	T	0.77750	-1.12	5.57	5.57	0.84162	.	.	.	.	.	D	0.83681	0.5307	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.85078	0.0944	9	0.87932	D	0	.	17.0465	0.86505	0.0:0.0:1.0:0.0	.	155	Q9UF12	PROD2_HUMAN	Y	155	ENSP00000301175:S155Y	ENSP00000301175:S155Y	S	-	2	0	PRODH2	40995237	1.000000	0.71417	0.953000	0.39169	0.115000	0.19883	4.782000	0.62396	2.618000	0.88619	0.591000	0.81541	TCC		0.662	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2		NM_021232	
RAB36	9609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	23501360	23501360	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:23501360C>G	ENST00000263116.2	+	9	777	c.737C>G	c.(736-738)gCa>gGa	p.A246G	RAB36_ENST00000341989.4_Missense_Mutation_p.A224G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	246					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.A246G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCAGGGGCCGCATGTGAGCAG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											31.0	26.0	28.0					22																	23501360		2203	4300	6503	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.737C>G	22.37:g.23501360C>G	ENSP00000263116:p.Ala246Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263933	0.23136	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.78003	-1.14;-1.14	5.3	4.27	0.50696	Small GTP-binding protein domain (1);	0.136947	0.49305	D	0.000151	T	0.61274	0.2334	N	0.17872	0.535	0.23943	N	0.996392	P;B	0.39216	0.664;0.007	B;B	0.38500	0.275;0.009	T	0.57969	-0.7719	10	0.59425	D	0.04	-26.6426	6.3247	0.21237	0.1844:0.7235:0.0:0.0921	.	224;246	O95755-2;O95755	.;RAB36_HUMAN	G	246;224	ENSP00000263116:A246G;ENSP00000343494:A224G	ENSP00000263116:A246G	A	+	2	0	RAB36	21831360	0.457000	0.25752	0.318000	0.25279	0.006000	0.05464	1.083000	0.30815	2.653000	0.90120	0.511000	0.50034	GCA		0.657	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1		NM_004914	
RALY	22913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	32663747	32663747	+	Missense_Mutation	SNP	C	C	G	rs377184627		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:32663747C>G	ENST00000246194.3	+	6	947	c.445C>G	c.(445-447)Cgg>Ggg	p.R149G	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.R133G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	149					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R149G(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GAAGCGACCCCGGGTCACAGT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											53.0	45.0	47.0					20																	32663747		2203	4300	6503	SO:0001583	missense	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.445C>G	20.37:g.32663747C>G	ENSP00000246194:p.Arg149Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674750	0.88445	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000333552;ENST00000442805	T;T;T;T;T	0.34275	1.37;2.3;2.14;1.43;2.56	5.38	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.76727	2.345	0.47905	D	0.999542	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.65825	-0.6074	10	0.66056	D	0.02	-8.0342	15.094	0.72220	0.1427:0.8573:0.0:0.0	.	133;149	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	G	133;149;149;83;133	ENSP00000364255:R133G;ENSP00000413638:R149G;ENSP00000246194:R149G;ENSP00000327522:R83G;ENSP00000415973:R133G	ENSP00000246194:R149G	R	+	1	2	RALY	32127408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.195000	0.51013	1.458000	0.47871	0.460000	0.39030	CGG		0.627	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			
RBM34	23029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235318310	235318311	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:235318310_235318311delTG	ENST00000408888.3	-	4	712_713	c.482_483delCA	c.(481-483)acafs	p.T161fs	RBM34_ENST00000366606.3_Frame_Shift_Del_p.T156fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	161						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTGTGTCTTCTGTGTCATCAAG	0.351																																																	0																																										SO:0001589	frameshift_variant	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.482_483delCA	1.37:g.235318312_235318313delTG	ENSP00000386226:p.Thr161fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8J7|Q8N2Z8|Q9H5A1	Frame_Shift_Del	DEL	ENST00000408888.3	37	CCDS41477.2																																																																																				0.351	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1		NM_015014	
RFX1	5989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14083791	14083791	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:14083791C>G	ENST00000254325.4	-	9	1312	c.1078G>C	c.(1078-1080)Gtg>Ctg	p.V360L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	360					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.V360L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGCCGGACACGTACATGGGC	0.726																																																	1	Substitution - Missense(1)	kidney(1)											20.0	20.0	20.0					19																	14083791		2180	4279	6459	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1078G>C	19.37:g.14083791C>G	ENSP00000254325:p.Val360Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650356	0.67472	.	.	ENSG00000132005	ENST00000254325	T	0.38722	1.12	4.74	4.74	0.60224	RFX1 transcription activation region (1);	0.345250	0.29451	N	0.012115	T	0.38931	0.1059	L	0.41824	1.3	0.49483	D	0.999793	B	0.15930	0.015	B	0.29440	0.102	T	0.17198	-1.0377	10	0.26408	T	0.33	-13.623	16.514	0.84294	0.0:1.0:0.0:0.0	.	360	P22670	RFX1_HUMAN	L	360	ENSP00000254325:V360L	ENSP00000254325:V360L	V	-	1	0	RFX1	13944791	1.000000	0.71417	0.987000	0.45799	0.888000	0.51559	3.147000	0.50639	2.196000	0.70406	0.561000	0.74099	GTG		0.726	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1		NM_002918	
RPRD2	23248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150444821	150444821	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:150444821A>G	ENST00000369068.4	+	11	3401	c.3397A>G	c.(3397-3399)Aca>Gca	p.T1133A	RPRD2_ENST00000401000.4_Missense_Mutation_p.T1107A|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1133						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.T1133A(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGATCTGAGCACATCAGGTAG	0.567																																																	2	Substitution - Missense(2)	kidney(2)											53.0	56.0	55.0					1																	150444821		2009	4160	6169	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3397A>G	1.37:g.150444821A>G	ENSP00000358064:p.Thr1133Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287932	0.23478	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.42131	0.98;0.99	4.87	3.73	0.42828	.	0.377447	0.27052	N	0.021166	T	0.15176	0.0366	N	0.14661	0.345	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.19391	0.011;0.025	T	0.09751	-1.0660	10	0.72032	D	0.01	-10.8428	12.5053	0.55977	0.8518:0.1482:0.0:0.0	.	1133;1107	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	A	1107;1133	ENSP00000383785:T1107A;ENSP00000358064:T1133A	ENSP00000358064:T1133A	T	+	1	0	RPRD2	148711445	0.310000	0.24527	1.000000	0.80357	0.953000	0.61014	0.426000	0.21363	2.031000	0.59945	0.533000	0.62120	ACA		0.567	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203	
RUNDC3B	154661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87445570	87445570	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:87445570G>A	ENST00000338056.3	+	11	1680	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.M406I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.M357I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	423								p.M423I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAAATGTAATGAGTGAAGGTA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											73.0	69.0	70.0					7																	87445570		2203	4300	6503	SO:0001583	missense	154661				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1269G>A	7.37:g.87445570G>A	ENSP00000337732:p.Met423Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970178	0.18659	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.41065	1.01;1.01;1.01	5.44	-4.88	0.03113	.	0.351137	0.29501	N	0.011978	T	0.13200	0.0320	N	0.08118	0	0.22424	N	0.999117	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.10428	-1.0630	10	0.20519	T	0.43	-4.9544	1.586	0.02644	0.3108:0.1816:0.0881:0.4195	.	406;406;279;357;423	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	I	423;357;406	ENSP00000337732:M423I;ENSP00000420394:M357I;ENSP00000378149:M406I	ENSP00000337732:M423I	M	+	3	0	RUNDC3B	87283506	0.771000	0.28555	0.722000	0.30670	0.744000	0.42396	-0.295000	0.08298	-0.585000	0.05905	-1.319000	0.01295	ATG		0.368	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1		NM_138290	
SCN5A	6331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38647616	38647616	+	Silent	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:38647616G>T	ENST00000333535.4	-	10	1313	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	SCN5A_ENST00000414099.2_Silent_p.I388I|SCN5A_ENST00000443581.1_Silent_p.I388I|SCN5A_ENST00000425664.1_Silent_p.I388I|SCN5A_ENST00000450102.2_Silent_p.I388I|SCN5A_ENST00000451551.2_Silent_p.I388I|SCN5A_ENST00000413689.1_Silent_p.I388I|SCN5A_ENST00000423572.2_Silent_p.I388I|SCN5A_ENST00000455624.2_Silent_p.I388I|SCN5A_ENST00000449557.2_Silent_p.I388I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	388					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I388I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATCATGTAGATCTTCCCTG	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	58.0	58.0					3																	38647616		2003	4169	6172	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1164C>A	3.37:g.38647616G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056	
SEL1L2	80343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	13830874	13830874	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:13830874T>A	ENST00000284951.5	-	19	1984	c.1910A>T	c.(1909-1911)gAa>gTa	p.E637V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E524V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	637						integral component of membrane (GO:0016021)		p.E637V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGCGTAGTTTCCAGTTTCAT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											106.0	102.0	103.0					20																	13830874		1968	4159	6127	SO:0001583	missense	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1910A>T	20.37:g.13830874T>A	ENSP00000284951:p.Glu637Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	T	17.11	3.304742	0.60305	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.24151	1.87;2.2	5.97	5.97	0.96955	.	0.088745	0.49305	D	0.000157	T	0.25717	0.0626	L	0.57536	1.79	0.43803	D	0.996357	P;P	0.50710	0.801;0.938	B;B	0.44315	0.438;0.446	T	0.06058	-1.0848	10	0.15952	T	0.53	-25.2592	8.8557	0.35227	0.0:0.0825:0.0:0.9175	.	524;637	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	524;637	ENSP00000367312:E524V;ENSP00000284951:E637V	ENSP00000284951:E637V	E	-	2	0	SEL1L2	13778874	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.576000	0.36504	2.281000	0.76405	0.533000	0.62120	GAA		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3		NM_025229	
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27287870	27287870	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:27287870C>T	ENST00000317338.12	-	6	1790	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	SEZ6_ENST00000335960.6_Silent_p.R454R|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.R454R|SEZ6_ENST00000360295.9_Silent_p.R454R			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	454	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R454R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCAGGTGTAGCCGCTGGCCCT	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	106.0	101.0					17																	27287870		2128	4244	6372	SO:0001819	synonymous_variant	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1362G>A	17.37:g.27287870C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902745	0.17760	.	.	ENSG00000063015	ENST00000539265	.	.	.	4.75	2.62	0.31277	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39396	-0.9616	4	.	.	.	.	4.6199	0.12444	0.0:0.6237:0.1815:0.1947	.	.	.	.	D	41	.	.	G	-	2	0	SEZ6	24311996	0.239000	0.23836	1.000000	0.80357	0.940000	0.58332	-0.192000	0.09587	1.368000	0.46115	0.313000	0.20887	GGC		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			
SIGLEC1	6614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3673709	3673709	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:3673709C>T	ENST00000344754.4	-	14	3577	c.3578G>A	c.(3577-3579)tGc>tAc	p.C1193Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.C1193Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1193	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.C1193Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCCACAGTGCACAGTACCAG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											12.0	17.0	15.0					20																	3673709		2186	4274	6460	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3578G>A	20.37:g.3673709C>T	ENSP00000341141:p.Cys1193Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412470	0.62511	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	D;D	0.94537	-3.45;-3.45	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000594	D	0.97807	0.9280	H	0.94771	3.58	0.45118	D	0.998136	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98406	1.0570	10	0.87932	D	0	.	12.8369	0.57777	0.0:1.0:0.0:0.0	.	1193;1193	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	Y	1193	ENSP00000341141:C1193Y;ENSP00000202578:C1193Y	ENSP00000202578:C1193Y	C	-	2	0	SIGLEC1	3621709	0.996000	0.38824	0.997000	0.53966	0.748000	0.42578	4.300000	0.59079	2.405000	0.81733	0.655000	0.94253	TGC		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2		NM_023068	
SLC25A28	81894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101373512	101373512	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:101373512T>G	ENST00000370495.4	-	2	489	c.461A>C	c.(460-462)aAg>aCg	p.K154T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	154					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K154T(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CTTTTTTAACTTTTCGTAGCA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											66.0	70.0	69.0					10																	101373512		1906	4115	6021	SO:0001583	missense	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.461A>C	10.37:g.101373512T>G	ENSP00000359526:p.Lys154Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733220	0.48939	.	.	ENSG00000155287	ENST00000370495	T	0.77750	-1.12	5.14	5.14	0.70334	Mitochondrial carrier domain (2);	0.192902	0.43919	D	0.000513	T	0.70193	0.3196	L	0.31752	0.955	0.53688	D	0.999978	P	0.41188	0.741	B	0.43018	0.405	T	0.67783	-0.5581	10	0.22109	T	0.4	-18.1225	15.1236	0.72465	0.0:0.0:0.0:1.0	.	154	Q96A46	MFRN2_HUMAN	T	154	ENSP00000359526:K154T	ENSP00000359526:K154T	K	-	2	0	SLC25A28	101363502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.161000	0.67846	0.459000	0.35465	AAG		0.517	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1		NM_031212	
SLC3A1	6519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44507853	44507853	+	Splice_Site	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:44507853A>G	ENST00000260649.6	+	2	506		c.e2-1		SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409387.1_Splice_Site|SLC3A1_ENST00000410056.3_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTTTTCTTCAGGTATTCAAG	0.284																																																	1	Unknown(1)	kidney(1)											30.0	32.0	31.0					2																	44507853		2201	4297	6498	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.431-1A>G	2.37:g.44507853A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	37	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.772870	0.69992	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7284	0.69362	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC3A1	44361357	1.000000	0.71417	0.988000	0.46212	0.943000	0.58893	8.699000	0.91316	1.930000	0.55929	0.533000	0.62120	.		0.284	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1		NM_000341	Intron
SLC4A5	57835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74477471	74477471	+	Splice_Site	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:74477471T>A	ENST00000377634.4	-	17	2051	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L	SLC4A5_ENST00000394019.2_Splice_Site_p.Q551L|SLC4A5_ENST00000358683.4_Splice_Site_p.Q487L|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Splice_Site_p.Q551L|SLC4A5_ENST00000423644.1_Splice_Site_p.Q551L|SLC4A5_ENST00000346834.4_Splice_Site_p.Q551L|SLC4A5_ENST00000357822.5_Splice_Site_p.Q551L|SLC4A5_ENST00000359484.4_Splice_Site_p.Q487L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.Q551L(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCACACACCTGATAATTGTC	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											69.0	69.0	69.0					2																	74477471		2203	4300	6503	SO:0001630	splice_region_variant	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1653+1A>T	2.37:g.74477471T>A		Somatic	1153	WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052643	0.55218	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.39085	1.19	0.58432	D	0.999999	P;D;D;D;D	0.89917	0.708;1.0;0.999;1.0;0.973	B;D;D;D;P	0.91635	0.395;0.999;0.999;0.999;0.843	T	0.74188	-0.3746	10	0.06494	T	0.89	.	13.8738	0.63638	0.0:0.0:0.0:1.0	.	551;551;487;551;551	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	551;551;551;487;551;487;551;551;551;551	ENSP00000377587:Q551L;ENSP00000251768:Q551L;ENSP00000352461:Q487L;ENSP00000395804:Q551L;ENSP00000351513:Q487L;ENSP00000350475:Q551L;ENSP00000366859:Q551L;ENSP00000366861:Q551L;ENSP00000405678:Q551L	ENSP00000251768:Q551L	Q	-	2	0	SLC4A5	74330979	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CAG		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			Missense_Mutation
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16260312	16260312	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:16260312A>C	ENST00000375759.3	+	11	7781	c.7577A>C	c.(7576-7578)gAt>gCt	p.D2526A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2526	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D2526A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCCTCTGATGTTGACACC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											184.0	188.0	187.0					1																	16260312		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7577A>C	1.37:g.16260312A>C	ENSP00000364912:p.Asp2526Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474725	0.43942	.	.	ENSG00000065526	ENST00000375759	T	0.27256	1.68	5.16	5.16	0.70880	.	.	.	.	.	T	0.45716	0.1356	L	0.59436	1.845	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.25847	-1.0120	9	0.23891	T	0.37	-21.2822	14.9899	0.71377	1.0:0.0:0.0:0.0	.	2526	Q96T58	MINT_HUMAN	A	2526	ENSP00000364912:D2526A	ENSP00000364912:D2526A	D	+	2	0	SPEN	16132899	1.000000	0.71417	0.942000	0.38095	0.798000	0.45092	8.864000	0.92294	1.958000	0.56883	0.459000	0.35465	GAT		0.552	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123184076	123184076	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:123184076A>C	ENST00000371160.1	+	11	1224	c.934A>C	c.(934-936)Att>Ctt	p.I312L	STAG2_ENST00000371145.3_Missense_Mutation_p.I312L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.I312L|STAG2_ENST00000371157.3_Missense_Mutation_p.I312L|STAG2_ENST00000354548.5_Missense_Mutation_p.I243L|STAG2_ENST00000371144.3_Missense_Mutation_p.I312L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	312	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.I312L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATTGAAGAGATTGGCATTTG	0.368																																																	2	Substitution - Missense(2)	kidney(2)											277.0	231.0	247.0					X																	123184076		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.934A>C	X.37:g.123184076A>C	ENSP00000360202:p.Ile312Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931440	0.92389	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.54	5.54	0.83059	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	N	0.12611	0.24	0.80722	D	1	B;B	0.22851	0.073;0.076	B;B	0.26864	0.074;0.034	T	0.06552	-1.0820	10	0.02654	T	1	-8.195	14.8301	0.70142	1.0:0.0:0.0:0.0	.	312;312	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	312;312;243;312;312;312;312	ENSP00000218089:I312L;ENSP00000397265:I312L;ENSP00000346555:I243L;ENSP00000360202:I312L;ENSP00000360199:I312L;ENSP00000360187:I312L;ENSP00000360186:I312L	ENSP00000218089:I312L	I	+	1	0	STAG2	123011757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.245000	0.95431	1.952000	0.56665	0.486000	0.48141	ATT		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
SUZ12	23512	broad.mit.edu;hgsc.bcm.edu	37	17	30310113	30310113	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:30310113T>A	ENST00000322652.5	+	9	1242	c.1013T>A	c.(1012-1014)cTt>cAt	p.L338H	SUZ12_ENST00000580398.1_Missense_Mutation_p.L315H	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	338					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.L338H(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAGACTATTCTTGATGGGAAG	0.403			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Missense(1)	kidney(1)											141.0	132.0	135.0					17																	30310113		2203	4300	6503	SO:0001583	missense	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1013T>A	17.37:g.30310113T>A	ENSP00000316578:p.Leu338His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162982	0.38217	.	.	ENSG00000178691	ENST00000322652	T	0.47177	0.85	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68765	0.846;0.96	T	0.59220	-0.7495	10	0.29301	T	0.29	-6.0629	13.8583	0.63542	0.0:0.0:0.0:1.0	.	338;338	A8K1U9;Q15022	.;SUZ12_HUMAN	H	338	ENSP00000316578:L338H	ENSP00000316578:L338H	L	+	2	0	SUZ12	27334226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.037000	0.88933	1.669000	0.50854	0.433000	0.28618	CTT		0.403	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355	
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64532268	64532269	+	Missense_Mutation	DNP	CG	CG	TC	rs372338837		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr14:64532268_64532269CG>TC	ENST00000344113.4	+	51	10543_10544	c.10331_10332CG>TC	c.(10330-10332)tCG>tTC	p.S3444F	SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S3444L(1)|p.S3444>?(1)|p.S3444S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGGG	0.436																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	Exception_encountered	14.37:g.64532268_64532269delinsTC	ENSP00000341781:p.Ser3444Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation|Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.436	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914	
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234536934	234536934	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:234536934C>T	ENST00000040877.1	-	25	4063	c.4064G>A	c.(4063-4065)tGt>tAt	p.C1355Y	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1355					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.C1355Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CACCTCTAGACAATAATCCTT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											101.0	93.0	96.0					1																	234536934		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4064G>A	1.37:g.234536934C>T	ENSP00000040877:p.Cys1355Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080068	0.76528	.	.	ENSG00000059588	ENST00000040877	T	0.05855	3.38	5.99	5.07	0.68467	.	0.043983	0.85682	D	0.000000	T	0.15782	0.0380	L	0.60455	1.87	0.47862	D	0.999535	D	0.59357	0.985	P	0.54460	0.753	T	0.00026	-1.2313	10	0.62326	D	0.03	-7.3364	14.6419	0.68732	0.0:0.9306:0.0:0.0694	.	1355	Q13395	TARB1_HUMAN	Y	1355	ENSP00000040877:C1355Y	ENSP00000040877:C1355Y	C	-	2	0	TARBP1	232603557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.290000	0.65661	2.843000	0.97960	0.655000	0.94253	TGT		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1		NM_005646	
TEX13A	56157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104464107	104464107	+	Missense_Mutation	SNP	A	A	C	rs367979230		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:104464107A>C	ENST00000413579.1	-	5	880	c.769T>G	c.(769-771)Tac>Gac	p.Y257D	TEX13A_ENST00000372575.1_Missense_Mutation_p.S257R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.S257R			Q9BXU3	TX13A_HUMAN	testis expressed 13A	257							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAATAGGTGTACTTTTCCTGA	0.567																																																	0													56.0	56.0	56.0					X																	104464107		1975	4142	6117	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.769T>G	X.37:g.104464107A>C	ENSP00000399753:p.Tyr257Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.926205|1.926205	0.34002|0.34002	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	-2.25|-2.25	0.06888|0.06888	.|.	.|1.115670	.|0.07095	.|N	.|0.839406	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	.|B	.|0.24963	.|0.115	.|B	.|0.21546	.|0.035	T|T	0.40496|0.40496	-0.9560|-0.9560	6|9	0.87932|0.72032	D|D	0|0.01	.|.	3.812|3.812	0.08801|0.08801	0.3401:0.4024:0.2575:0.0|0.3401:0.4024:0.2575:0.0	.|.	.|257	.|Q9BXU3	.|TX13A_HUMAN	R|D	257|257	.|.	ENSP00000361656:S257R|ENSP00000399753:Y257D	S|Y	-|-	3|1	2|0	TEX13A|TEX13A	104350763|104350763	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.148000|-0.148000	0.10219|0.10219	-0.573000|-0.573000	0.05998|0.05998	0.417000|0.417000	0.27973|0.27973	AGT|TAC		0.567	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_031274	
TMCO3	55002	hgsc.bcm.edu;ucsc.edu	37	13	114156172	114156173	+	Frame_Shift_Ins	INS	-	-	CTTCAGGA			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:114156172_114156173insCTTCAGGA	ENST00000434316.2	+	5	1281_1282	c.922_923insCTTCAGGA	c.(922-924)cctfs	p.-310fs	TMCO3_ENST00000375391.1_Frame_Shift_Ins_p.-310fs|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTTCTGGGACCTTCAGGACTA	0.351																																																	0																																										SO:0001589	frameshift_variant	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.923_930dupCTTCAGGA	13.37:g.114156173_114156180dupCTTCAGGA	ENSP00000389399:p.Gly310fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Frame_Shift_Ins	INS	ENST00000434316.2	37	CCDS9537.1																																																																																				0.351	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3		NM_017905	
AGMO	392636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	15433778	15433778	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:15433778T>C	ENST00000342526.3	-	6	805	c.636A>G	c.(634-636)gaA>gaG	p.E212E	AGMO_ENST00000498264.1_5'UTR	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	212					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.E212E(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TAAGAATCAGTTCCAAAGGAC	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	143.0	141.0					7																	15433778		2203	4295	6498	SO:0001819	synonymous_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.636A>G	7.37:g.15433778T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	CCDS34604.1																																																																																				0.299	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2		NM_001004320	
TMPRSS11A	339967	broad.mit.edu;ucsc.edu	37	4	68780433	68780433	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:68780433T>C	ENST00000334830.7	-	9	1723	c.977A>G	c.(976-978)gAt>gGt	p.D326G	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D323G|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.D322G			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	326	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D326G(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCTCGGAGATCATTTTGGGA	0.378																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	kidney(1)											132.0	125.0	127.0					4																	68780433		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.977A>G	4.37:g.68780433T>C	ENSP00000334611:p.Asp326Gly	Somatic		WXS	Illumina GAIIx	Phase_I	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	T	0.959	-0.703908	0.03255	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.78	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.094320	0.06993	N	0.821942	T	0.80839	0.4700	L	0.28014	0.82	0.09310	N	1	B;B	0.31125	0.309;0.027	B;B	0.31946	0.138;0.055	T	0.66689	-0.5860	10	0.23302	T	0.38	.	4.0404	0.09748	0.1518:0.1636:0.0:0.6846	.	323;326	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	G	322;326;323;290	ENSP00000426911:D322G;ENSP00000334611:D326G;ENSP00000379491:D323G;ENSP00000427621:D290G	ENSP00000334611:D326G	D	-	2	0	TMPRSS11A	68463028	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.873000	0.28052	0.476000	0.27440	-0.353000	0.07706	GAT		0.378	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3		NM_182606	
TNIK	23043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170945979	170945979	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:170945979G>A	ENST00000436636.2	-	3	499	c.155C>T	c.(154-156)gCc>gTc	p.A52V	TNIK_ENST00000460047.1_Missense_Mutation_p.A52V|TNIK_ENST00000475336.1_Missense_Mutation_p.A52V|TNIK_ENST00000470834.1_Missense_Mutation_p.A52V|TNIK_ENST00000538048.1_Missense_Mutation_p.A52V|TNIK_ENST00000341852.6_Missense_Mutation_p.A52V|TNIK_ENST00000488470.1_Missense_Mutation_p.A52V|TNIK_ENST00000284483.8_Missense_Mutation_p.A52V|TNIK_ENST00000369326.5_Missense_Mutation_p.A52V|TNIK_ENST00000357327.5_Missense_Mutation_p.A52V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A52V(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AACCTTGATGGCTGCAAGCTG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											120.0	117.0	118.0					3																	170945979		1921	4121	6042	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.155C>T	3.37:g.170945979G>A	ENSP00000399511:p.Ala52Val	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416135	0.96092	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114507	0.64402	D	0.000015	T	0.79661	0.4484	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;0.999;1.0;1.0	D;D;D;P;D;D;D;D	0.87578	0.955;0.959;0.998;0.84;0.959;0.959;0.998;0.976	T	0.81863	-0.0737	10	0.87932	D	0	.	17.8186	0.88643	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52;52;52	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	52	ENSP00000399511:A52V;ENSP00000358332:A52V;ENSP00000443278:A52V;ENSP00000345352:A52V;ENSP00000284483:A52V;ENSP00000418156:A52V;ENSP00000349880:A52V;ENSP00000418916:A52V;ENSP00000418378:A52V;ENSP00000419990:A52V	ENSP00000284483:A52V	A	-	2	0	TNIK	172428673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.339000	0.90041	2.818000	0.97014	0.655000	0.94253	GCC		0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2		XM_039796	
TPI1	7167	broad.mit.edu;hgsc.bcm.edu	37	12	6979622	6979622	+	3'UTR	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:6979622C>T	ENST00000229270.4	+	0	1273				TPI1_ENST00000396705.5_3'UTR|TPI1_ENST00000535434.1_3'UTR|RPL13P5_ENST00000412023.1_RNA	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CTGCCCTTTCCCTGCATATGC	0.498											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51.0	49.0	50.0					12																	6979622		876	1991	2867	SO:0001624	3_prime_UTR_variant	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.*75C>T	12.37:g.6979622C>T		Somatic	638	WXS	Illumina HiSeq	Phase_I	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	RNA	SNP	ENST00000229270.4	37	CCDS53740.1																																																																																				0.498	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1		NM_000365	
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112572550	112572550	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:112572550A>G	ENST00000257604.5	+	3	673	c.56A>G	c.(55-57)gAa>gGa	p.E19G	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E19G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	19					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.E19G(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGCAAAAAAGAAATTCCTGTG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											156.0	149.0	151.0					12																	112572550		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.56A>G	12.37:g.112572550A>G	ENSP00000257604:p.Glu19Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989453	0.74589	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	5.37	5.37	0.77165	.	0.216684	0.44285	D	0.000462	T	0.10465	0.0256	M	0.74881	2.28	0.41952	D	0.990664	P;P	0.44044	0.825;0.825	P;B	0.46585	0.521;0.364	T	0.00847	-1.1542	10	0.62326	D	0.03	-10.0938	14.3769	0.66884	1.0:0.0:0.0:0.0	.	19;19	F8VNX8;O14545	.;TRAD1_HUMAN	G	19	ENSP00000396526:E19G;ENSP00000449319:E19G;ENSP00000257604:E19G;ENSP00000450357:E19G	ENSP00000257604:E19G	E	+	2	0	TRAFD1	111056933	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.236000	0.72339	2.042000	0.60477	0.454000	0.30748	GAA		0.408	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1		NM_006700	
TSC2	7249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2134519	2134519	+	Silent	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:2134519C>G	ENST00000219476.3	+	34	4926	c.4296C>G	c.(4294-4296)gcC>gcG	p.A1432A	TSC2_ENST00000568454.1_Silent_p.A1376A|TSC2_ENST00000382538.6_Silent_p.A1317A|TSC2_ENST00000439673.2_Silent_p.A1329A|TSC2_ENST00000350773.4_Silent_p.A1409A|TSC2_ENST00000353929.4_Silent_p.A1389A|TSC2_ENST00000401874.2_Silent_p.A1365A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1432					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A1432A(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGGTCGGCCTCGGGCGAAG	0.706			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	2	Substitution - coding silent(2)	kidney(2)											15.0	16.0	16.0					16																	2134519		2167	4283	6450	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4296C>G	16.37:g.2134519C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																				0.706	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548	
TUT1	64852	broad.mit.edu;hgsc.bcm.edu	37	11	62348882	62348882	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:62348882C>G	ENST00000476907.1	-	3	1256	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	TUT1_ENST00000308436.7_Missense_Mutation_p.E227Q|MIR3654_ENST00000496634.2_Missense_Mutation_p.E189Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	189					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.E227Q(1)|p.E189Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAAGACCTCCTGCATCAGG	0.587																																																	2	Substitution - Missense(2)	kidney(2)											39.0	37.0	38.0					11																	62348882		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.565G>C	11.37:g.62348882C>G	ENSP00000419607:p.Glu189Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37		.	.	.	.	.	.	.	.	.	.	C	31	5.077471	0.94000	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	T;T;T	0.42513	0.97;0.97;0.97	5.38	5.38	0.77491	.	0.494197	0.22706	N	0.056638	T	0.50752	0.1634	N	0.25380	0.74	0.39511	D	0.968368	D	0.89917	1.0	D	0.87578	0.998	T	0.40869	-0.9540	10	0.20046	T	0.44	-16.1393	16.681	0.85291	0.0:1.0:0.0:0.0	.	227	F5H0R1	.	Q	227;189;103	ENSP00000308000:E227Q;ENSP00000419607:E189Q;ENSP00000420739:E103Q	ENSP00000441670:E189Q	E	-	1	0	TUT1	62105458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.983000	0.76180	2.516000	0.84829	0.555000	0.69702	GAG		0.587	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2		NM_022830	
VTN	7448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26696549	26696549	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:26696549C>G	ENST00000226218.4	-	3	1126	c.508G>C	c.(508-510)Ggt>Cgt	p.G170R	SARM1_ENST00000457710.3_5'Flank|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	170					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G170R(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	AAGAGGGAACCGTTCTTGAGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											60.0	58.0	58.0					17																	26696549		2203	4300	6503	SO:0001583	missense	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.508G>C	17.37:g.26696549C>G	ENSP00000226218:p.Gly170Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872637	0.91587	.	.	ENSG00000255604	ENST00000226218	T	0.04015	3.73	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01266	-1.1401	10	0.87932	D	0	-24.1631	20.0212	0.97504	0.0:1.0:0.0:0.0	.	170	P04004	VTNC_HUMAN	R	170	ENSP00000226218:G170R	ENSP00000226218:G170R	G	-	1	0	AC002094.1	23720676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.486000	0.66856	2.735000	0.93741	0.561000	0.74099	GGT		0.622	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2		NM_000638	
WDR5B	54554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122133533	122133533	+	Silent	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:122133533A>T	ENST00000330689.4	-	1	1349	c.843T>A	c.(841-843)atT>atA	p.I281I	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	281								p.I281I(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAAGGTTCCAAATGTAAACCA	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	137.0	140.0					3																	122133533		2203	4300	6503	SO:0001819	synonymous_variant	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.843T>A	3.37:g.122133533A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCM9|Q9NUL4	Silent	SNP	ENST00000330689.4	37	CCDS3012.1																																																																																				0.403	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1		NM_019069	
WDR70	55100	broad.mit.edu;hgsc.bcm.edu	37	5	37379472	37379472	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:37379472G>A	ENST00000265107.4	+	1	159	c.3G>A	c.(1-3)atG>atA	p.M1I	WDR70_ENST00000504564.1_Start_Codon_SNP_p.M1I	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	1							enzyme binding (GO:0019899)	p.M1I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCAGCCATGGAGCGCTCTG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											76.0	90.0	85.0					5																	37379472		2203	4300	6503	SO:0001582	initiator_codon_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.3G>A	5.37:g.37379472G>A	ENSP00000265107:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235803	0.39498	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.85955	-0.16;-2.05	4.07	4.07	0.47477	.	0.593826	0.14025	U	0.346541	D	0.89873	0.6841	.	.	.	0.58432	D	0.999993	P;B	0.45126	0.851;0.273	P;B	0.55391	0.775;0.38	D	0.90238	0.4284	9	0.87932	D	0	6.8245	13.61	0.62071	0.0:0.0:1.0:0.0	.	1;1	D6RIW8;Q9NW82	.;WDR70_HUMAN	I	1	ENSP00000265107:M1I;ENSP00000425841:M1I	ENSP00000265107:M1I	M	+	3	0	WDR70	37415229	1.000000	0.71417	0.995000	0.50966	0.213000	0.24496	4.575000	0.60908	2.273000	0.75805	0.557000	0.71058	ATG		0.657	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034	Missense_Mutation
ZBTB48	3104	hgsc.bcm.edu;ucsc.edu	37	1	6647268	6647280	+	Frame_Shift_Del	DEL	TCCTCCTGCTCCC	TCCTCCTGCTCCC	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TCCTCCTGCTCCC	TCCTCCTGCTCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:6647268_6647280delTCCTCCTGCTCCC	ENST00000377674.4	+	6	1299_1311	c.1141_1153delTCCTCCTGCTCCC	c.(1141-1155)tcctcctgctcccagfs	p.SSCSQ381fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	381					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TTTTCAGTGTTCCTCCTGCTCCCAGCAGTTCAT	0.587																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0																																										SO:0001589	frameshift_variant	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1141_1153delTCCTCCTGCTCCC	1.37:g.6647268_6647280delTCCTCCTGCTCCC	ENSP00000366902:p.Ser381fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SY19	Frame_Shift_Del	DEL	ENST00000377674.4	37	CCDS84.1																																																																																				0.587	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1		NM_005341	
ZIC4	84107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	147114035	147114035	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:147114035A>G	ENST00000383075.3	-	3	804	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	ZIC4_ENST00000425731.3_Missense_Mutation_p.Y136H|ZIC4_ENST00000484399.1_Missense_Mutation_p.Y98H|ZIC4_ENST00000473123.1_Missense_Mutation_p.Y98H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.Y148H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	98						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y98H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATGCCCCCGTAGCCATGCAGG	0.687																																																	1	Substitution - Missense(1)	kidney(1)											16.0	20.0	19.0					3																	147114035		2121	4255	6376	SO:0001583	missense	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.292T>C	3.37:g.147114035A>G	ENSP00000372553:p.Tyr98His	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547486	0.86022	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	4.98	4.98	0.66077	.	0.162858	0.29080	N	0.013205	T	0.65196	0.2668	L	0.49778	1.585	0.80722	D	1	D;B	0.69078	0.997;0.032	D;B	0.66847	0.947;0.032	T	0.65051	-0.6262	10	0.42905	T	0.14	.	14.6674	0.68918	1.0:0.0:0.0:0.0	.	148;98	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	98;136;148;98;98;98	ENSP00000372553:Y98H;ENSP00000397695:Y136H;ENSP00000435509:Y148H;ENSP00000417855:Y98H;ENSP00000420775:Y98H;ENSP00000420627:Y98H	ENSP00000372553:Y98H	Y	-	1	0	ZIC4	148596725	1.000000	0.71417	0.930000	0.37139	0.926000	0.56050	8.962000	0.93254	1.864000	0.54056	0.459000	0.35465	TAC		0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			
ZNF556	80032	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2877284	2877284	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:2877284G>A	ENST00000307635.2	+	4	415	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	ZNF556_ENST00000586426.1_Missense_Mutation_p.V109M	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V110M(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCCAAGGGTGGAGAGACC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											66.0	61.0	63.0					19																	2877284		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.328G>A	19.37:g.2877284G>A	ENSP00000302603:p.Val110Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230282	0.22542	.	.	ENSG00000172000	ENST00000307635	T	0.05855	3.38	1.97	-3.54	0.04653	.	.	.	.	.	T	0.04952	0.0133	L	0.43152	1.355	0.09310	N	1	B	0.25486	0.127	B	0.23275	0.045	T	0.38564	-0.9655	9	0.42905	T	0.14	.	4.0326	0.09716	0.4094:0.1872:0.4033:0.0	.	110	Q9HAH1	ZN556_HUMAN	M	110	ENSP00000302603:V110M	ENSP00000302603:V110M	V	+	1	0	ZNF556	2828284	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.826000	0.04429	-0.721000	0.04929	0.407000	0.27541	GTG		0.363	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2		NM_024967	
ZNF606	80095	broad.mit.edu;hgsc.bcm.edu	37	19	58512737	58512737	+	5'UTR	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:58512737A>C	ENST00000341164.4	-	0	571				ZNF606_ENST00000547828.1_5'UTR|CTD-2368P22.1_ENST00000550135.1_5'Flank|ZNF606_ENST00000547121.1_5'UTR|ZNF606_ENST00000536132.1_5'UTR|ZNF606_ENST00000546715.1_5'UTR|ZNF606_ENST00000552579.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCAAATCCCAACCTAGTGACA	0.493																																																	0													41.0	37.0	38.0					19																	58512737		2203	4300	6503	SO:0001623	5_prime_UTR_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.-50T>G	19.37:g.58512737A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAN2|Q8NE04|Q96JH5	Splice_Site	SNP	ENST00000341164.4	37	CCDS12968.1																																																																																				0.493	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3945851	3945851	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:3945851delA	ENST00000381638.2	-	39	6302	c.6178delT	c.(6178-6180)tcafs	p.S2060fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2060							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACACTTCTGAATCTTCAGCA	0.448																																																	0													104.0	99.0	101.0					17																	3945851		2203	4300	6503	SO:0001589	frameshift_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6178delT	17.37:g.3945851delA	ENSP00000371051:p.Ser2060fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	CCDS11043.1																																																																																				0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
IGHD3-10	28499	broad.mit.edu	37	14	106368500	106368500	+	RNA	SNP	C	C	T	rs541617501		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr14:106368500C>T	ENST00000390583.1	-	0	31				IGHD4-11_ENST00000431440.2_RNA|IGHD1-14_ENST00000451044.1_RNA|IGHD6-13_ENST00000390580.1_RNA|IGHD3-9_ENST00000390584.1_RNA|IGHD5-12_ENST00000390581.1_RNA					immunoglobulin heavy diversity 3-10																		TGGGCGGCACCACTGTGGTAA	0.602																																																	0													94.0	104.0	101.0					14																	106368500		1966	4100	6066			8755			X13972		14q32.33	2012-02-08			ENSG00000211923	ENSG00000211923		"""Immunoglobulins / IGH locus"""	5495	other	immunoglobulin gene						3243276	Standard	NG_001019		Approved	IGHD310, DXP'1			OTTHUMG00000152354		14.37:g.106368500C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	SNP	ENST00000390583.1	37																																																																																					0.602	IGHD3-10-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000325960.3		NG_001019	
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001																2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											13.0	10.0	11.0					10																	37478443		386	1018	1404	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997	
SOWAHD	347454	broad.mit.edu	37	X	118893385	118893385	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:118893385G>T	ENST00000343905.3	+	1	810	c.755G>T	c.(754-756)gGg>gTg	p.G252V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	252								p.G328V(1)									AGCGGCAGCGGGTGCACCAAC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											7.0	10.0	9.0					X																	118893385		2062	4060	6122	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.755G>T	X.37:g.118893385G>T	ENSP00000340975:p.Gly252Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000343905.3	37	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578450	0.28180	.	.	ENSG00000187808	ENST00000343905	T	0.14144	2.53	3.67	-0.359	0.12571	.	.	.	.	.	T	0.10165	0.0249	L	0.50333	1.59	0.09310	N	1	B	0.25904	0.137	B	0.18263	0.021	T	0.33650	-0.9860	9	0.28530	T	0.3	-0.1428	3.7872	0.08705	0.5836:0.1873:0.2291:0.0	.	252	A6NJG2	ANR58_HUMAN	V	252	ENSP00000340975:G252V	ENSP00000340975:G252V	G	+	2	0	ANKRD58	118777413	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.451000	0.06795	-0.257000	0.09459	-0.527000	0.04329	GGG		0.692	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1		NM_001105576	
DOCK2	1794	broad.mit.edu	37	5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:169494626T>A	ENST00000256935.8	+	45	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1527	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1527H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											178.0	163.0	168.0					5																	169494626		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4580T>A	5.37:g.169494626T>A	ENSP00000256935:p.Leu1527His	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354110	0.82243	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.37411	1.2;1.2;1.2	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	H	0.94542	3.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	1019;83;1527	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1527;1019;588	ENSP00000256935:L1527H;ENSP00000429283:L1019H;ENSP00000438827:L588H	ENSP00000256935:L1527H	L	+	2	0	DOCK2	169427204	1.000000	0.71417	0.151000	0.22473	0.863000	0.49368	7.993000	0.88291	1.933000	0.56026	0.460000	0.39030	CTC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946	
ENPP7	339221	broad.mit.edu	37	17	77707422	77707422	+	Missense_Mutation	SNP	G	G	A	rs145931726		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:77707422G>A	ENST00000328313.5	+	2	591	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.V124M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAACGGCAGCGTGCCCATCTG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	61.0	44.0	49.0		370	-9.6	0.0	17	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ENPP7	NM_178543.3	21	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	benign	124/459	77707422	6,13000	2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.370G>A	17.37:g.77707422G>A	ENSP00000332656:p.Val124Met	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.61	2.885963	0.51908	9.08E-4	2.33E-4	ENSG00000182156	ENST00000328313	T	0.74632	-0.86	4.78	-9.56	0.00566	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.415210	0.22119	N	0.064366	T	0.50274	0.1606	N	0.25485	0.75	0.25781	N	0.984728	B	0.31209	0.313	B	0.32805	0.153	T	0.38866	-0.9641	10	0.39692	T	0.17	-11.4596	7.7023	0.28630	0.146:0.5996:0.1089:0.1454	.	124	Q6UWV6	ENPP7_HUMAN	M	124	ENSP00000332656:V124M	ENSP00000332656:V124M	V	+	1	0	ENPP7	75322017	0.000000	0.05858	0.017000	0.16124	0.973000	0.67179	-0.316000	0.08071	-1.934000	0.01051	0.591000	0.81541	GTG		0.622	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1		NM_178543	
DENND6A	201627	broad.mit.edu	37	3	57678668	57678668	+	Silent	SNP	G	G	A	rs539723065	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:57678668G>A	ENST00000311128.5	-	1	148	c.78C>T	c.(76-78)ggC>ggT	p.G26G	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	26					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G26G(1)									GCGCCTCGCGGCCCTCGGCCC	0.751													C|||	14	0.00279553	0.0	0.0	5008	,	,		12349	0.0		0.0	False		,,,				2504	0.0143																1	Substitution - coding silent(1)	kidney(1)											6.0	8.0	7.0					3																	57678668		1912	3767	5679	SO:0001819	synonymous_variant	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.78C>T	3.37:g.57678668G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	CCDS33773.1																																																																																				0.751	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		NM_152678	
FAM120A	23196	broad.mit.edu	37	9	96320221	96320221	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:96320221A>C	ENST00000277165.6	+	14	2791	c.2597A>C	c.(2596-2598)tAc>tCc	p.Y866S	FAM120A_ENST00000340893.4_Missense_Mutation_p.Y866S|FAM120A_ENST00000333936.5_Missense_Mutation_p.Y894S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	866	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Y866S(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGCCCTTCTACCCTGCCTCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											45.0	36.0	39.0					9																	96320221		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2597A>C	9.37:g.96320221A>C	ENSP00000277165:p.Tyr866Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264104	0.59431	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.44482	1.38;1.4;1.45;0.92	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000004	T	0.58779	0.2146	L	0.46157	1.445	0.48511	D	0.999664	P;D;B	0.76494	0.592;0.999;0.119	B;D;B	0.80764	0.099;0.994;0.099	T	0.60291	-0.7292	10	0.62326	D	0.03	-15.0554	16.0487	0.80740	1.0:0.0:0.0:0.0	.	866;894;866	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	S	866;894;866;288	ENSP00000277165:Y866S;ENSP00000334918:Y894S;ENSP00000344698:Y866S;ENSP00000412440:Y288S	ENSP00000277165:Y866S	Y	+	2	0	FAM120A	95360042	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.616000	0.54174	2.189000	0.69895	0.533000	0.62120	TAC		0.647	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612	
HSP90AB2P	391634	broad.mit.edu	37	4	13338959	13338960	+	RNA	DNP	GC	GC	AT			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:13338959_13338960GC>AT	ENST00000602906.1	+	0	747_748							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K91K(1)|p.P92S(1)		kidney(3)|lung(1)	4						ACAAGACCAAGCCTATTTGGAC	0.416																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																										391634			AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8		Exception_encountered	4.37:g.13338959_13338960delinsAT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000602906.1	37																																																																																					0.416	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			
GON4L	54856	broad.mit.edu	37	1	155718444	155718444	+	IGR	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:155718444T>C	ENST00000368331.1	-	0	7640					NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCAGGCCAGTCCCTTCCTGA	0.537																																																	0																																										SO:0001628	intergenic_variant	100129405			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106		1.37:g.155718444T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	ENST00000368331.1	37																																																																																					0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	GACGGG	GACGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035																1	Deletion - In frame(1)	prostate(1)							,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del	Somatic		WXS	Illumina GAIIx	Phase_I	B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			
SPINK8	646424	broad.mit.edu	37	3	48362546	48362546	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:48362546G>T	ENST00000434006.1	-	2	85	c.86C>A	c.(85-87)gCc>gAc	p.A29D		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	29						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A29D(1)		autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCTTTCAGAGGCCATAGGAAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											51.0	46.0	48.0					3																	48362546		1859	4108	5967	SO:0001583	missense	646424				CCDS46822.1	3p21.31	2011-08-31			ENSG00000229453	ENSG00000229453		"""Serine peptidase inhibitors, Kazal type"""	33160	protein-coding gene	gene with protein product						16930550	Standard	NM_001080525		Approved		uc003csq.1	P0C7L1	OTTHUMG00000156832	ENST00000434006.1:c.86C>A	3.37:g.48362546G>T	ENSP00000407497:p.Ala29Asp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000434006.1	37	CCDS46822.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.500572	0.01001	.	.	ENSG00000229453	ENST00000434006	T	0.25414	1.8	3.31	-2.35	0.06684	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	8	0.14656	T	0.56	.	5.8596	0.18738	0.0:0.3534:0.2491:0.3975	.	29	P0C7L1	ISK8_HUMAN	D	29	ENSP00000407497:A29D	ENSP00000407497:A29D	A	-	2	0	SPINK8	48337550	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.814000	0.04486	-0.548000	0.06199	0.650000	0.86243	GCC		0.483	SPINK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346123.1		NM_001080525	
MSN	4478	broad.mit.edu	37	X	64844726	64844727	+	3'UTR	DEL	AG	AG	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:64844726_64844727delAG	ENST00000609205.1	+	0	743_744							P26038	MOES_HUMAN	moesin						cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						agaaagaaaaagagaaagaaaa	0.386			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0																																										SO:0001624	3_prime_UTR_variant	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000609205.1:c.*741AG>-	X.37:g.64844728_64844729delAG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000609205.1	37																																																																																					0.386	MSN-005	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000471683.1		NM_002444	
WBP11P1	441818	broad.mit.edu	37	18	30091829	30091829	+	RNA	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr18:30091829A>T	ENST00000567636.1	+	0	204					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CAACATGGGAAGGAGATCTGC	0.408																																																	0																																												441818			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091829A>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000567636.1	37																																																																																					0.408	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			
HEPH	9843	broad.mit.edu	37	X	65474914	65474914	+	Missense_Mutation	SNP	G	G	T	rs146719428		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:65474914G>T	ENST00000343002.2	+	15	3265	c.2601G>T	c.(2599-2601)agG>agT	p.R867S	HEPH_ENST00000441993.2_Missense_Mutation_p.R870S|HEPH_ENST00000519389.1_Missense_Mutation_p.R921S|HEPH_ENST00000336279.5_Missense_Mutation_p.R600S|HEPH_ENST00000419594.1_Missense_Mutation_p.R678S|HEPH_ENST00000374727.3_Missense_Mutation_p.R870S			Q9BQS7	HEPH_HUMAN	hephaestin	867	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.R867S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCAGAGAGGTCTGGCCCTG	0.502																																						.											1	Substitution - Missense(1)	kidney(1)											126.0	107.0	114.0					X																	65474914		2203	4300	6503	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2601G>T	X.37:g.65474914G>T	ENSP00000343939:p.Arg867Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034436	0.35893	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.54	-1.24	0.09435	Cupredoxin (2);	0.107276	0.64402	N	0.000011	D	0.94192	0.8136	N	0.21583	0.68	0.28091	N	0.931804	B;P;D;B	0.53745	0.224;0.603;0.962;0.044	B;P;B;B	0.49637	0.126;0.617;0.381;0.034	D	0.89852	0.4010	10	0.36615	T	0.2	.	1.4427	0.02357	0.5448:0.143:0.1714:0.1408	.	921;267;678;867	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	S	921;870;600;870;678;867	ENSP00000430620:R921S;ENSP00000363859:R870S;ENSP00000337418:R600S;ENSP00000411687:R870S;ENSP00000413211:R678S;ENSP00000343939:R867S	ENSP00000337418:R600S	R	+	3	2	HEPH	65391639	0.933000	0.31639	0.998000	0.56505	0.967000	0.64934	0.041000	0.13927	-0.140000	0.11394	-0.366000	0.07423	AGG		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1		NM_138737	
TTN	7273	broad.mit.edu	37	2	179434729	179434729	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:179434729A>C	ENST00000591111.1	-	276	71431	c.71207T>G	c.(71206-71208)tTc>tGc	p.F23736C	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F16504C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F25377C|TTN_ENST00000460472.2_Missense_Mutation_p.F16312C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F16437C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F22809C|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23736	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F16312C(1)|p.F22807C(1)|p.F16504C(1)|p.F16437C(1)|p.F22809C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACTCTGAACTCATAATC	0.453																																						.											5	Substitution - Missense(5)	kidney(5)											99.0	94.0	95.0					2																	179434729		1932	4129	6061	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71207T>G	2.37:g.179434729A>C	ENSP00000465570:p.Phe23736Cys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	11.37	1.618648	0.28801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87529	0.6200	H	0.99609	4.655	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	D	0.91743	0.5406	9	0.87932	D	0	.	11.3793	0.49748	0.8334:0.0:0.0:0.1666	.	16312;16437;16504;23736	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22809;16312;16504;16437;16310	ENSP00000343764:F22809C;ENSP00000434586:F16312C;ENSP00000340554:F16504C;ENSP00000352154:F16437C	ENSP00000340554:F16504C	F	-	2	0	TTN	179142975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.302000	0.77476	0.533000	0.62120	TTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
