#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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
IGHV3-22	28443	broad.mit.edu	37	14	106714625	106714625	+	IGR	SNP	G	G	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr14:106714625G>T								IGHV3-21 (22422 upstream) : IGHV3-23 (10575 downstream)																							CCCCCAGGCTGTACCAAGCCT	0.582																																																	0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106714625G>T				RNA	SNP		37																																																																																				0	0.582									
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56246350	56246350	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr18:56246350A>G	ENST00000361673.3	-	4	1871	c.1658T>C	c.(1657-1659)cTg>cCg	p.L553P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	553						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L553P(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTTTCTCTCAGGTTGGCATT	0.517											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											138.0	131.0	134.0					18																	56246350		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1658T>C	18.37:g.56246350A>G	ENSP00000354991:p.Leu553Pro	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452823	0.26074	.	.	ENSG00000198796	ENST00000361673	T	0.70045	-0.45	5.22	0.0747	0.14396	.	2.117220	0.03092	N	0.159986	T	0.59770	0.2218	L	0.61218	1.895	0.19575	N	0.999968	B	0.29508	0.246	B	0.26094	0.066	T	0.34378	-0.9831	10	0.46703	T	0.11	-0.1648	1.3949	0.02258	0.5132:0.1362:0.2196:0.131	.	553	Q86TB3	ALPK2_HUMAN	P	553	ENSP00000354991:L553P	ENSP00000354991:L553P	L	-	2	0	ALPK2	54397330	0.003000	0.15002	0.000000	0.03702	0.011000	0.07611	0.694000	0.25512	-0.215000	0.10063	-0.250000	0.11733	CTG		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947	
PRRC2C	23215	broad.mit.edu	37	1	171526993	171526993	+	Silent	SNP	A	A	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:171526993A>C	ENST00000338920.4	+	19	5973	c.5736A>C	c.(5734-5736)ccA>ccC	p.P1912P	PRRC2C_ENST00000426496.2_Silent_p.P1912P|PRRC2C_ENST00000367742.3_Silent_p.P1914P|PRRC2C_ENST00000392078.3_Silent_p.P1914P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1912	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P1914P(2)									cttcagccccagccccagccc	0.632																																																	2	Substitution - coding silent(2)	kidney(2)											27.0	23.0	24.0					1																	171526993		1862	3591	5453	SO:0001819	synonymous_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5736A>C	1.37:g.171526993A>C			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	3.435	-0.115375	0.06881	.	.	ENSG00000117523	ENST00000495585	.	.	.	0.418	0.418	0.16429	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.19775	N	0.999957	.	.	.	.	.	.	T	0.27971	-1.0058	3	.	.	.	.	.	.	.	.	.	.	.	P	460	.	.	Q	+	2	0	PRRC2C	169793617	0.031000	0.19500	0.029000	0.17559	0.197000	0.23852	0.488000	0.22371	0.402000	0.25451	0.392000	0.25879	CAG		0.632	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
BCORL1	63035	broad.mit.edu	37	X	129150165	129150165	+	Silent	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chrX:129150165G>A	ENST00000218147.7	+	4	3614	c.3417G>A	c.(3415-3417)gtG>gtA	p.V1139V	BCORL1_ENST00000359304.2_Silent_p.V1139V|BCORL1_ENST00000303743.5_Silent_p.V1139V|BCORL1_ENST00000540052.1_Silent_p.V1139V			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1139					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1139V(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAAGGCCGTGGTCCGGAGTT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	18.0	20.0					X																	129150165		2202	4299	6501	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3417G>A	X.37:g.129150165G>A			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.966310	0.02232	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.45	-6.71	0.01760	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	11.6523	6.0023	0.19527	0.2101:0.1966:0.4953:0.098	.	.	.	.	S	575	.	.	G	+	1	0	BCORL1	128977846	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	-0.103000	0.10940	-1.662000	0.01482	-1.067000	0.02272	GGT		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	
C8orf31	286122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144124475	144124475	+	Silent	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr8:144124475C>G	ENST00000395172.1	+	2	409	c.57C>G	c.(55-57)acC>acG	p.T19T	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	19								p.T19T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTCAAAACCAAGCAGCTGG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	79.0	78.0					8																	144124475		2203	4300	6503	SO:0001819	synonymous_variant	286122				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.57C>G	8.37:g.144124475C>G			Q6GMU7	Silent	SNP	ENST00000395172.1	37	CCDS6395.1																																																																																				0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1		NM_173687	
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24437602	24437602	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr22:24437602G>A	ENST00000398319.2	+	5	611	c.226G>A	c.(226-228)Gat>Aat	p.D76N	CABIN1_ENST00000405822.2_Missense_Mutation_p.D76N|CABIN1_ENST00000263119.5_Missense_Mutation_p.D76N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	76					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.D76N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCATCCGGTGATGAGAAAGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											104.0	96.0	99.0					22																	24437602		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.226G>A	22.37:g.24437602G>A	ENSP00000381364:p.Asp76Asn		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448613	0.63178	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000536026	T;T;T	0.64085	0.08;-0.08;0.08	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	N	0.24115	0.695	0.80722	D	1	B;B	0.22851	0.076;0.046	B;B	0.23018	0.043;0.019	T	0.39941	-0.9589	10	0.20046	T	0.44	.	19.0638	0.93101	0.0:0.0:1.0:0.0	.	76;76	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	N	76	ENSP00000263119:D76N;ENSP00000384694:D76N;ENSP00000381364:D76N	ENSP00000263119:D76N	D	+	1	0	CABIN1	22767602	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.411000	0.97342	2.833000	0.97629	0.650000	0.86243	GAT		0.522	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295	
CDK15	65061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202687539	202687539	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr2:202687539C>T	ENST00000374598.4	+	5	456	c.456C>T	c.(454-456)ctC>ctT	p.L152L	CDK15_ENST00000410091.3_Silent_p.L101L|CDK15_ENST00000450471.2_Silent_p.L152L|CDK15_ENST00000260967.2_Silent_p.L101L|CDK15_ENST00000434439.1_Silent_p.L152L|CDK15_ENST00000488419.1_3'UTR			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.L101L(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TAGCTTCTCTCCTGAAGGGTT	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	134.0	135.0					2																	202687539		2203	4300	6503	SO:0001819	synonymous_variant	65061			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.456C>T	2.37:g.202687539C>T			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37																																																																																					0.343	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			
CENPF	1063	broad.mit.edu;ucsc.edu	37	1	214830403	214830403	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:214830403T>C	ENST00000366955.3	+	18	8781	c.8613T>C	c.(8611-8613)caT>caC	p.H2871H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2967	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.H2871H(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATAAGCCATGAAAAGTTAG	0.393																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - coding silent(1)	kidney(1)											145.0	138.0	141.0					1																	214830403		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8613T>C	1.37:g.214830403T>C			Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343	
CLDN18	51208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	137717737	137717737	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:137717737G>T	ENST00000343735.4	+	1	161	c.27G>T	c.(25-27)ttG>ttT	p.L9F		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	9					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GTCAGGGCTTGGGGTTCGTGG	0.567																																																	0													119.0	97.0	104.0					3																	137717737		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.27G>T	3.37:g.137717737G>T	ENSP00000340939:p.Leu9Phe		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326425	0.41197	.	.	ENSG00000066405	ENST00000343735	D	0.90955	-2.76	4.48	2.68	0.31781	.	0.306075	0.27792	N	0.017824	D	0.86024	0.5834	.	.	.	0.80722	D	1	B	0.31383	0.321	B	0.31245	0.126	T	0.82228	-0.0561	9	0.51188	T	0.08	.	10.4446	0.44486	0.1585:0.0:0.8415:0.0	.	9	P56856-2	.	F	9	ENSP00000340939:L9F	ENSP00000340939:L9F	L	+	3	2	CLDN18	139200427	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.640000	0.37186	0.622000	0.30249	0.563000	0.77884	TTG		0.567	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2		NM_001002026	
CLPX	10845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65449219	65449219	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:65449219T>C	ENST00000300107.3	-	9	1297	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	370					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)	p.H370R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCGTAATTGATGAATGCCTGG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											161.0	135.0	144.0					15																	65449219		2202	4299	6501	SO:0001583	missense	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1109A>G	15.37:g.65449219T>C	ENSP00000300107:p.His370Arg		A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728419	0.89390	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.39997	1.05	5.65	5.65	0.86999	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.80764	0.994;0.942	T	0.58999	-0.7536	10	0.59425	D	0.04	.	15.8694	0.79101	0.0:0.0:0.0:1.0	.	370;370	Q9H072;O76031	.;CLPX_HUMAN	R	370	ENSP00000300107:H370R	ENSP00000300107:H370R	H	-	2	0	CLPX	63236272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.143000	0.66587	0.455000	0.32223	CAT		0.378	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2		NM_006660	
COL19A1	1310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	70916883	70916883	+	Missense_Mutation	SNP	G	G	T	rs141812196	byFrequency	TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:70916883G>T	ENST00000322773.4	+	51	3436	c.3334G>T	c.(3334-3336)Ggc>Tgc	p.G1112C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G734C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1112					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G1112C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGTGCCCCAGGCCCACAGGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											130.0	153.0	145.0					6																	70916883		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3334G>T	6.37:g.70916883G>T	ENSP00000316030:p.Gly1112Cys		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001510	0.54254	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99637	-6.29;-6.29	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.98559	4.265	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.96799	0.9588	10	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	1112	Q14993	COJA1_HUMAN	C	1112;734	ENSP00000316030:G1112C;ENSP00000377013:G734C	ENSP00000316030:G1112C	G	+	1	0	COL19A1	70973604	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	6.685000	0.74543	2.793000	0.96121	0.563000	0.77884	GGC		0.537	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			
CT62	196993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	71403498	71403498	+	Silent	SNP	T	T	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:71403498T>G	ENST00000449977.2	-	4	909	c.403A>C	c.(403-405)Agg>Cgg	p.R135R	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	135								p.R135R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCCTATCTCCTCTGACCAGAT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	92.0	91.0					15																	71403498		1909	4118	6027	SO:0001819	synonymous_variant	196993			BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.403A>C	15.37:g.71403498T>G				Silent	SNP	ENST00000449977.2	37	CCDS45295.1																																																																																				0.438	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1		NM_001102658	
DDX18	8886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	118583851	118583851	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr2:118583851A>G	ENST00000263239.2	+	11	1656	c.1528A>G	c.(1528-1530)Att>Gtt	p.I510V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	510	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.I510V(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGAATATATTCATCGTGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											69.0	58.0	62.0					2																	118583851		2203	4300	6503	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1528A>G	2.37:g.118583851A>G	ENSP00000263239:p.Ile510Val		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999092	0.74818	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.78003	-1.14;-1.14	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.048358	0.85682	D	0.000000	T	0.70701	0.3254	N	0.05078	-0.115	0.80722	D	1	P	0.46578	0.88	P	0.53809	0.735	T	0.77197	-0.2676	10	0.56958	D	0.05	0.0088	14.6937	0.69103	1.0:0.0:0.0:0.0	.	510	Q9NVP1	DDX18_HUMAN	V	510;249;174	ENSP00000263239:I510V;ENSP00000415604:I174V	ENSP00000263239:I510V	I	+	1	0	DDX18	118300321	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.918000	0.92759	2.130000	0.65690	0.454000	0.30748	ATT		0.458	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3		NM_006773	
DENND4A	10260	broad.mit.edu;ucsc.edu	37	15	65957694	65957694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:65957694C>T	ENST00000431932.2	-	29	5424	c.5216G>A	c.(5215-5217)tGg>tAg	p.W1739*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1782*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1739					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.W1741*(1)|p.W1782*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTGCATTCCAGAGAATGTA	0.368																																																	2	Substitution - Nonsense(2)	kidney(2)											140.0	139.0	139.0					15																	65957694		1902	4118	6020	SO:0001587	stop_gained	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5216G>A	15.37:g.65957694C>T	ENSP00000396830:p.Trp1739*		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	47	13.493637	0.99745	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.7	5.7	0.88788	.	0.114988	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	.	.	.	X	1782;1739	.	ENSP00000396830:W1739X	W	-	2	0	DENND4A	63744748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.726000	0.84824	2.684000	0.91462	0.650000	0.86243	TGG		0.368	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848	
DHX29	54505	broad.mit.edu;ucsc.edu	37	5	54579287	54579287	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:54579287T>C	ENST00000251636.5	-	11	1857	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	570						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.Q570R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGGTAGCTGTTGTCTTTCCTT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											137.0	145.0	142.0					5																	54579287		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1709A>G	5.37:g.54579287T>C	ENSP00000251636:p.Gln570Arg		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028726	0.35797	.	.	ENSG00000067248	ENST00000251636	T	0.08193	3.12	5.52	5.52	0.82312	DEAD-like helicase (1);	0.113614	0.64402	D	0.000007	T	0.06234	0.0161	N	0.11789	0.175	0.45261	D	0.998261	B	0.18610	0.029	B	0.15484	0.013	T	0.39860	-0.9593	10	0.35671	T	0.21	.	15.6471	0.77063	0.0:0.0:0.0:1.0	.	570	Q7Z478	DHX29_HUMAN	R	570	ENSP00000251636:Q570R	ENSP00000251636:Q570R	Q	-	2	0	DHX29	54615044	1.000000	0.71417	0.995000	0.50966	0.668000	0.39293	7.665000	0.83852	2.101000	0.63845	0.482000	0.46254	CAA		0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030	
DIAPH3	81624	hgsc.bcm.edu	37	13	60385029	60385030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr13:60385029_60385030insT	ENST00000400324.4	-	25	3275_3276	c.3055_3056insA	c.(3055-3057)agafs	p.R1019fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.R973fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.R949fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.R1019fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.R1019fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.R1008fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1019	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTGCTTCTCTTTTTTTGATA	0.317																																																	0																																										SO:0001589	frameshift_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3056dupA	13.37:g.60385036_60385036dupT	ENSP00000383178:p.Arg1019fs		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	CCDS41898.1																																																																																				0.317	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517	
DSP	1832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7583844	7583844	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:7583844G>T	ENST00000379802.3	+	24	6690	c.6349G>T	c.(6349-6351)Gat>Tat	p.D2117Y	DSP_ENST00000418664.2_Missense_Mutation_p.D1518Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2117	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2117Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATTTGATTGATAGAGAAAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											69.0	77.0	74.0					6																	7583844		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6349G>T	6.37:g.7583844G>T	ENSP00000369129:p.Asp2117Tyr		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119960	0.56613	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72725	-0.68;-0.68	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000010	T	0.64382	0.2593	N	0.22421	0.69	0.23966	N	0.996321	D;D	0.71674	0.998;0.991	D;P	0.66196	0.942;0.77	T	0.62305	-0.6882	10	0.62326	D	0.03	.	13.9753	0.64268	0.0:0.0:0.8485:0.1515	.	1565;2117	Q4LE79;P15924	.;DESP_HUMAN	Y	2117;1518	ENSP00000369129:D2117Y;ENSP00000396591:D1518Y	ENSP00000369129:D2117Y	D	+	1	0	DSP	7528843	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	4.555000	0.60767	2.595000	0.87683	0.655000	0.94253	GAT		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56394387	56394388	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C|T	C|T	C|T	A	C|T	C|T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:56394387_56394388CT>AA	ENST00000244364.6	-	47	9791_9792	c.9584_9585AG>TT	c.(9583-9585)cAG>cTT	p.Q3195L	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q5283L|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.Q5787L|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Missense_Mutation_p.Q3521L|DST_ENST00000370769.4_Missense_Mutation_p.Q5609L	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5607					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5609H(1)|p.Q3195H(1)|p.Q5609L(1)|p.Q3195L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACATAAGGCCTGCTGGAGGAG	0.426																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9584_9585delinsAA	6.37:g.56394387_56394388delinsAA	ENSP00000244364:p.Gln3195Leu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1																																																																																				0.426	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4		NM_001723	
FIBCD1	84929	broad.mit.edu	37	9	133799697	133799697	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:133799697C>T	ENST00000372338.4	-	3	881	c.639G>A	c.(637-639)ctG>ctA	p.L213L	FIBCD1_ENST00000448616.1_Silent_p.L213L|FIBCD1_ENST00000372337.2_Silent_p.L55L|FIBCD1_ENST00000253018.4_Silent_p.L55L	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	213						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.L213L(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGGGCCGGCCCAGCCCCCGGT	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											10.0	13.0	12.0					9																	133799697		2191	4284	6475	SO:0001819	synonymous_variant	84929			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.639G>A	9.37:g.133799697C>T			A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170135	0.09339	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.14	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2401	0.06778	0.1243:0.4953:0.2234:0.157	.	.	.	.	X	167	.	.	W	-	2	0	FIBCD1	132789518	0.000000	0.05858	0.998000	0.56505	0.426000	0.31534	-1.105000	0.03323	0.633000	0.30452	0.462000	0.41574	TGG		0.701	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2		NM_032843	
GNA13	10672	hgsc.bcm.edu;ucsc.edu	37	17	63052574	63052574	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr17:63052574C>G	ENST00000439174.2	-	1	383	c.138G>C	c.(136-138)aaG>aaC	p.K46N	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	46					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCACCAGCCGCTTCACATAGG	0.622																																																	0													120.0	116.0	117.0					17																	63052574		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.138G>C	17.37:g.63052574C>G	ENSP00000400717:p.Lys46Asn		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140874	0.37825	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.90444	-2.67	4.06	4.06	0.47325	.	0.060679	0.64402	U	0.000005	D	0.91784	0.7401	L	0.55103	1.725	0.80722	D	1	P	0.45634	0.863	P	0.51833	0.681	D	0.92663	0.6143	10	0.59425	D	0.04	.	16.2163	0.82224	0.0:1.0:0.0:0.0	.	46	Q14344	GNA13_HUMAN	N	46	ENSP00000400717:K46N	ENSP00000239138:K46N	K	-	3	2	GNA13	60483036	1.000000	0.71417	0.553000	0.28255	0.006000	0.05464	0.862000	0.27899	1.796000	0.52611	0.462000	0.41574	AAG		0.622	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572	
HDAC1	3065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32782361	32782361	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:32782361G>C	ENST00000373548.3	+	3	342	c.258G>C	c.(256-258)gaG>gaC	p.E86D	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	86	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E86D(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ACATGTCGGAGTACAGCAAGC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											180.0	159.0	166.0					1																	32782361		2203	4300	6503	SO:0001583	missense	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.258G>C	1.37:g.32782361G>C	ENSP00000362649:p.Glu86Asp		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488584	0.26686	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	T;T	0.70516	-0.49;-0.49	5.17	-1.25	0.09405	Histone deacetylase domain (2);	0.130049	0.26460	U	0.024247	T	0.48295	0.1492	N	0.20807	0.61	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.14023	0.0;0.01	T	0.15321	-1.0441	10	0.16420	T	0.52	-24.2623	9.8982	0.41331	0.5051:0.0:0.4949:0.0	.	86;86	B4DSK9;Q13547	.;HDAC1_HUMAN	D	86	ENSP00000362649:E86D;ENSP00000407859:E86D	ENSP00000362649:E86D	E	+	3	2	HDAC1	32554948	1.000000	0.71417	0.864000	0.33941	0.975000	0.68041	1.297000	0.33400	-0.438000	0.07232	-0.218000	0.12543	GAG		0.507	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3		NM_004964	
HOXC6	3223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54422514	54422514	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr12:54422514A>G	ENST00000243108.4	+	1	373	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_5'UTR	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	70					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y70C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGGGGCCGTATGACTATGGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											99.0	94.0	96.0					12																	54422514		2203	4300	6503	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.209A>G	12.37:g.54422514A>G	ENSP00000243108:p.Tyr70Cys		B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310218	0.40895	.	.	ENSG00000197757	ENST00000243108	D	0.92699	-3.09	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	L	0.37507	1.11	0.80722	D	1	B	0.22414	0.069	B	0.25140	0.058	D	0.84403	0.0561	10	0.33141	T	0.24	.	14.7997	0.69906	1.0:0.0:0.0:0.0	.	70	P09630	HXC6_HUMAN	C	70	ENSP00000243108:Y70C	ENSP00000243108:Y70C	Y	+	2	0	HOXC6	52708781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.735000	0.91549	2.326000	0.78906	0.533000	0.62120	TAT		0.498	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62228715	62228715	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:62228715G>A	ENST00000371158.2	+	3	167	c.53G>A	c.(52-54)cGc>cAc	p.R18H	INADL_ENST00000316485.6_Missense_Mutation_p.R18H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	18	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R18H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTACTTGATCGCCTGAAAATG	0.373																																																	1	Substitution - Missense(1)	kidney(1)											81.0	75.0	77.0					1																	62228715		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.53G>A	1.37:g.62228715G>A	ENSP00000360200:p.Arg18His		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833392	0.50951	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.20332	2.11;2.08	5.37	5.37	0.77165	L27 (2);L27-2 (1);	0.000000	0.64402	D	0.000002	T	0.44222	0.1283	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.995	P;D;P	0.91635	0.576;0.999;0.678	T	0.31420	-0.9944	10	0.59425	D	0.04	.	13.4064	0.60915	0.0755:0.0:0.9245:0.0	.	18;18;18	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	H	18	ENSP00000360200:R18H;ENSP00000326199:R18H	ENSP00000255202:R18H	R	+	2	0	INADL	62001303	1.000000	0.71417	0.685000	0.30070	0.158000	0.22134	6.546000	0.73887	2.491000	0.84063	0.585000	0.79938	CGC		0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	
KCP	375616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128519646	128519646	+	RNA	SNP	A	A	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr7:128519646A>T	ENST00000476647.2	-	0	4118							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)		p.L125Q(1)		central_nervous_system(1)|endometrium(3)	4						CGGCTCCTGCAGGAAGGGCAA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											19.0	27.0	24.0					7																	128519646		692	1588	2280			375616			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128519646A>T			Q8NBE0	Missense_Mutation	SNP	ENST00000476647.2	37																																																																																					0.657	KCP-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000403051.1		NM_199349	
KIAA0355	9710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34832722	34832722	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:34832722A>G	ENST00000299505.6	+	10	2756	c.1883A>G	c.(1882-1884)cAt>cGt	p.H628R		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	628								p.H628R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACTTCCTGCATGGAGATGAC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											64.0	60.0	61.0					19																	34832722		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1883A>G	19.37:g.34832722A>G	ENSP00000299505:p.His628Arg		Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	7.290	0.610778	0.14066	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.43	0.56	0.17279	.	0.571680	0.17498	N	0.172084	T	0.26882	0.0658	N	0.14661	0.345	0.25318	N	0.989142	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	9	0.87932	D	0	-26.3771	13.9201	0.63926	0.4916:0.5084:0.0:0.0	.	628	O15063	K0355_HUMAN	R	628	.	ENSP00000299505:H628R	H	+	2	0	KIAA0355	39524562	0.899000	0.30636	0.743000	0.31040	0.812000	0.45895	1.437000	0.34991	-0.188000	0.10499	-0.316000	0.08728	CAT		0.478	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686	
KL	9365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33635592	33635592	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr13:33635592T>C	ENST00000380099.3	+	4	2384	c.2376T>C	c.(2374-2376)gaT>gaC	p.D792D	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	792	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.D792D(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCACTGAAGATGAAAAAAAGC	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	66.0	65.0					13																	33635592		2203	4300	6503	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2376T>C	13.37:g.33635592T>C			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			
LRBA	987	broad.mit.edu	37	4	151604748	151604748	+	Missense_Mutation	SNP	T	T	C	rs369187914		TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr4:151604748T>C	ENST00000357115.3	-	37	6119	c.5876A>G	c.(5875-5877)aAc>aGc	p.N1959S	LRBA_ENST00000510413.1_Missense_Mutation_p.N1959S|LRBA_ENST00000507224.1_Missense_Mutation_p.N1959S|LRBA_ENST00000535741.1_Missense_Mutation_p.N1959S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1959						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.N1959S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGAGAATGTTGATAATTTT	0.418																																																	1	Substitution - Missense(1)	kidney(1)						T	SER/ASN,SER/ASN	0,4406		0,0,2203	256.0	229.0	238.0		5876,5876	5.2	1.0	4		238	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRBA	NM_001199282.2,NM_006726.4	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1959/2864,1959/2864	151604748	1,13005	2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5876A>G	4.37:g.151604748T>C	ENSP00000349629:p.Asn1959Ser		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.679289|4.679289	0.88542|0.88542	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Domain of unknown function DUF1088 (1);|.	0.099931|.	0.64402|.	D|.	0.000002|.	T|T	0.61248|0.61248	0.2332|0.2332	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	D;B|.	0.56746|.	0.977;0.306|.	P;B|.	0.48488|.	0.579;0.125|.	T|T	0.58561|0.58561	-0.7615|-0.7615	10|5	0.30078|.	T|.	0.28|.	.|.	15.3358|15.3358	0.74250|0.74250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1959;1959|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	S|A	1959|612	ENSP00000446299:N1959S;ENSP00000421552:N1959S;ENSP00000349629:N1959S;ENSP00000422180:N1959S|.	ENSP00000349629:N1959S|.	N|T	-|-	2|1	0|0	LRBA|LRBA	151824198|151824198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.093000|2.093000	0.63338|0.63338	0.477000|0.477000	0.44152|0.44152	AAC|ACA		0.418	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116422132	116422132	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr7:116422132T>G	ENST00000318493.6	+	18	3854	c.3667T>G	c.(3667-3669)Ttg>Gtg	p.L1223V	MET_ENST00000539704.1_Missense_Mutation_p.L75V|MET_ENST00000397752.3_Missense_Mutation_p.L1205V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1223V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCACAGAGACTTGGCTGCAAG	0.393			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											52.0	51.0	51.0					7																	116422132		1849	4100	5949	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3667T>G	7.37:g.116422132T>G	ENSP00000317272:p.Leu1223Val		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105926	0.56291	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.54279	0.58;0.58;0.58	5.87	2.16	0.27623	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133374	0.50627	D	0.000101	T	0.64627	0.2615	M	0.68593	2.085	0.54753	D	0.999985	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.996	T	0.61936	-0.6960	10	0.87932	D	0	.	6.0004	0.19517	0.0:0.261:0.1248:0.6142	.	1223;1205	P08581-2;P08581	.;MET_HUMAN	V	1205;1223;75	ENSP00000380860:L1205V;ENSP00000317272:L1223V;ENSP00000445020:L75V	ENSP00000317272:L1223V	L	+	1	2	MET	116209368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.021000	0.41020	0.192000	0.20272	0.533000	0.62120	TTG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			
NEFM	4741	broad.mit.edu	37	8	24775663	24775663	+	Silent	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr8:24775663G>A	ENST00000221166.5	+	3	3077	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.G726G|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Silent_p.G389G			P07197	NFM_HUMAN	neurofilament, medium polypeptide	765	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.G765G(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagaagaggggaagccactgc	0.532																																																	3	Substitution - coding silent(3)	kidney(3)											31.0	20.0	24.0					8																	24775663		2058	4009	6067	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2295G>A	8.37:g.24775663G>A			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																				0.532	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382	
NOL12	79159	broad.mit.edu;ucsc.edu	37	22	38084989	38084989	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr22:38084989C>G	ENST00000359114.4	+	4	441	c.371C>G	c.(370-372)aCc>aGc	p.T124S	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	124						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.T124S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CTCGGGCTGACCCCACCTGAG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											78.0	82.0	81.0					22																	38084989		2203	4300	6503	SO:0001583	missense	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.371C>G	22.37:g.38084989C>G	ENSP00000352021:p.Thr124Ser			Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960316	0.18507	.	.	ENSG00000256872	ENST00000359114	D	0.83163	-1.69	5.66	4.64	0.57946	.	0.307772	0.35903	N	0.002901	T	0.70465	0.3227	L	0.40543	1.245	0.26677	N	0.971618	B	0.02656	0.0	B	0.08055	0.003	T	0.53337	-0.8453	10	0.02654	T	1	-9.38	8.8606	0.35256	0.1476:0.7771:0.0:0.0753	.	124	Q9UGY1	NOL12_HUMAN	S	124	ENSP00000352021:T124S	ENSP00000352021:T124S	T	+	2	0	Z83844.2	36414935	0.001000	0.12720	0.087000	0.20705	0.236000	0.25371	0.698000	0.25571	1.397000	0.46682	0.655000	0.94253	ACC		0.647	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1		NM_024313	
PAM	5066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	102326008	102326008	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:102326008G>A	ENST00000438793.3	+	15	1986	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	PAM_ENST00000348126.2_Missense_Mutation_p.G399R|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.G409R|PAM_ENST00000304400.7_Missense_Mutation_p.G506R|PAM_ENST00000346918.2_Missense_Mutation_p.G506R|PAM_ENST00000455264.2_Missense_Mutation_p.G506R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	506	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.G506R(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGATTGGCCTGGAGTATACTT	0.438																																																	2	Substitution - Missense(2)	kidney(2)											68.0	67.0	67.0					5																	102326008		2203	4300	6503	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1516G>A	5.37:g.102326008G>A	ENSP00000396493:p.Gly506Arg		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.277814|4.277814	0.80692|0.80692	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T;T|.	0.59906|.	1.13;0.96;0.95;1.13;0.23;0.96|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.156761|.	0.56097|.	D|.	0.000026|.	T|.	0.70386|.	0.3218|.	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;B;D;D;D;D;D|.	0.76494|.	0.999;0.216;0.998;0.999;0.988;0.999;0.993|.	D;B;D;D;P;D;D|.	0.75020|.	0.985;0.135;0.967;0.98;0.84;0.985;0.927|.	T|.	0.66685|.	-0.5861|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.88|18.88	0.92352|0.92352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	409;79;506;506;506;506;399|.	F8WE90;Q13749;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	R|X	506;506;399;506;409;506|278	ENSP00000396493:G506R;ENSP00000282992:G506R;ENSP00000314638:G399R;ENSP00000306100:G506R;ENSP00000274392:G409R;ENSP00000403461:G506R|.	ENSP00000274392:G409R|.	G|W	+|+	1|2	0|0	PAM|PAM	102353907|102353907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	6.200000|6.200000	0.72118|0.72118	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.438	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2		NM_000919	
PDE7B	27115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136500189	136500189	+	Silent	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:136500189G>A	ENST00000308191.6	+	10	1161	c.858G>A	c.(856-858)agG>agA	p.R286R	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	286	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.R286R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	ACATCAACAGGCAGAATGAAT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											178.0	163.0	168.0					6																	136500189		2203	4300	6503	SO:0001819	synonymous_variant	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.858G>A	6.37:g.136500189G>A			Q5W154	Silent	SNP	ENST00000308191.6	37	CCDS5175.1																																																																																				0.428	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			
PIGZ	80235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196674754	196674755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:196674754_196674755insT	ENST00000412723.1	-	3	1159_1160	c.1013_1014insA	c.(1012-1014)tggfs	p.W338fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	338					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCAGCCGTTGCCACGCAGCCTG	0.668																																																	0																																										SO:0001589	frameshift_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1013_1014insA	3.37:g.196674754_196674755insT	ENSP00000413405:p.Trp338fs		Q9H9G6	Frame_Shift_Del	INS	ENST00000412723.1	37	CCDS3324.1																																																																																				0.668	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2		NM_025163	
PIGZ	80235	hgsc.bcm.edu	37	3	196674755	196674755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:196674755C>T	ENST00000412723.1	-	3	1159	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	338					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGCCGTTGCCACGCAGCCTG	0.667																																																	0													61.0	70.0	67.0					3																	196674755		2203	4298	6501	SO:0001587	stop_gained	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1013G>A	3.37:g.196674755C>T	ENSP00000413405:p.Trp338*		Q9H9G6	Nonsense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308463	0.60305	.	.	ENSG00000119227	ENST00000412723	.	.	.	5.17	5.17	0.71159	.	0.253705	0.28760	N	0.014232	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.1716	7.251	0.26150	0.1812:0.7325:0.0:0.0863	.	.	.	.	X	338	.	ENSP00000413405:W338X	W	-	2	0	PIGZ	198159152	0.974000	0.33945	0.976000	0.42696	0.239000	0.25481	1.802000	0.38853	2.581000	0.87130	0.561000	0.74099	TGG		0.667	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2		NM_025163	
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu	37	19	55713578	55713578	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:55713578C>T	ENST00000376350.3	-	6	1021	c.999G>A	c.(997-999)gaG>gaA	p.E333E	PTPRH_ENST00000263434.5_Silent_p.E155E|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	333	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E333E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCCAGTGTACTCAACCCCGT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	121.0	128.0					19																	55713578		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.999G>A	19.37:g.55713578C>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			
RELT	84957	broad.mit.edu;ucsc.edu	37	11	73105299	73105299	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:73105299A>G	ENST00000064780.2	+	8	986	c.725A>G	c.(724-726)gAg>gGg	p.E242G	RELT_ENST00000393580.2_Missense_Mutation_p.E242G|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	242						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E242G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCGGCCCTGGAGGAGCTGCTG	0.612											OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											63.0	62.0	62.0					11																	73105299		2199	4293	6492	SO:0001583	missense	84957			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.725A>G	11.37:g.73105299A>G	ENSP00000064780:p.Glu242Gly	1142	Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903310	0.72754	.	.	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	T;T	0.78364	-1.17;-1.17	5.47	5.47	0.80525	.	0.057391	0.64402	D	0.000002	D	0.85252	0.5654	L	0.60455	1.87	0.47476	D	0.999432	D	0.89917	1.0	D	0.85130	0.997	D	0.86513	0.1811	10	0.72032	D	0.01	-22.0804	12.9259	0.58260	1.0:0.0:0.0:0.0	.	242	Q969Z4	TR19L_HUMAN	G	242;242;110	ENSP00000064780:E242G;ENSP00000377207:E242G	ENSP00000064780:E242G	E	+	2	0	RELT	72782947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.884000	0.69729	2.071000	0.62044	0.533000	0.62120	GAG		0.612	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2		NM_032871	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237796991	237796991	+	Silent	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:237796991A>G	ENST00000366574.2	+	43	6986	c.6669A>G	c.(6667-6669)gaA>gaG	p.E2223E	RYR2_ENST00000360064.6_Silent_p.E2221E|RYR2_ENST00000542537.1_Silent_p.E2207E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2223	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2221E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTACTGGAAAACAGCAGTG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	119.0	121.0					1																	237796991		1827	4085	5912	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6669A>G	1.37:g.237796991A>G			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SERPINB4	6318	hgsc.bcm.edu;ucsc.edu	37	18	61305037	61305038	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr18:61305037_61305038insAA	ENST00000341074.5	-	8	1203_1204	c.1088_1089insTT	c.(1087-1089)ttcfs	p.F363fs	SERPINB4_ENST00000356424.6_Frame_Shift_Ins_p.F311fs	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	363					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GATTACAACAGAACTCTTCATT	0.45																																																	0																																										SO:0001589	frameshift_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1087_1088dupTT	18.37:g.61305038_61305039dupAA	ENSP00000343445:p.Phe363fs		A8K847	Frame_Shift_Ins	INS	ENST00000341074.5	37	CCDS11986.1																																																																																				0.450	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2		NM_175041	
SLC37A4	2542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118899051	118899051	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:118899051C>G	ENST00000545985.1	-	4	990	c.234G>C	c.(232-234)tgG>tgC	p.W78C	SLC37A4_ENST00000330775.7_Missense_Mutation_p.W78C|SLC37A4_ENST00000357590.5_Missense_Mutation_p.W78C|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.W5C	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	78					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.W78C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGAGAAGAGCCAGCGAGCAC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											46.0	55.0	52.0					11																	118899051		2081	4208	6289	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.234G>C	11.37:g.118899051C>G	ENSP00000475241:p.Trp78Cys		O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37																																																																																					0.542	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001467	
SPATA5L1	79029	broad.mit.edu	37	15	45695555	45695555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:45695555delC	ENST00000305560.6	+	1	1027	c.928delC	c.(928-930)cccfs	p.P310fs	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Frame_Shift_Del_p.P310fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	310						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGCCTTGTGTCCCCAGCGGGG	0.706																																																	0													11.0	14.0	13.0					15																	45695555		2186	4278	6464	SO:0001589	frameshift_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.928delC	15.37:g.45695555delC	ENSP00000305494:p.Pro310fs		C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Del	DEL	ENST00000305560.6	37	CCDS10123.1																																																																																				0.706	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1		NM_024063	
ST14	6768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130058115	130058115	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:130058115T>C	ENST00000278742.5	+	2	606	c.188T>C	c.(187-189)aTc>aCc	p.I63T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	63					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I63T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCGTGCTGATCGGCCTCCTC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											70.0	67.0	68.0					11																	130058115		2201	4297	6498	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.188T>C	11.37:g.130058115T>C	ENSP00000278742:p.Ile63Thr		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	T	9.819	1.185354	0.21870	.	.	ENSG00000149418	ENST00000278742	D	0.88664	-2.41	4.95	-9.89	0.00464	.	2.127440	0.03049	N	0.154329	T	0.76976	0.4063	N	0.14661	0.345	0.09310	N	0.999995	B	0.12013	0.005	B	0.09377	0.004	T	0.65492	-0.6155	10	0.46703	T	0.11	.	10.0178	0.42024	0.0:0.5571:0.1901:0.2528	.	63	Q9Y5Y6	ST14_HUMAN	T	63	ENSP00000278742:I63T	ENSP00000278742:I63T	I	+	2	0	ST14	129563325	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.595000	0.05727	-2.184000	0.00762	-0.242000	0.12053	ATC		0.617	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			
TNRC18	84629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5396761	5396761	+	Silent	SNP	C	C	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr7:5396761C>A	ENST00000430969.1	-	16	5328	c.4980G>T	c.(4978-4980)ggG>ggT	p.G1660G	TNRC18_ENST00000399537.4_Silent_p.G1660G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1660							chromatin binding (GO:0003682)	p.G1660G(2)|p.G715G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCCGCAGCCCCCGCTAGTTT	0.582																																																	3	Substitution - coding silent(3)	kidney(3)											44.0	41.0	42.0					7																	5396761		692	1591	2283	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4980G>T	7.37:g.5396761C>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.582	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
LINC01410	103352539	broad.mit.edu	37	9	66466172	66466172	+	lincRNA	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:66466172T>C	ENST00000424345.1	+	0	805																											GAATTGTACATGGTCCtgtga	0.418																																																	0																																												0																															9.37:g.66466172T>C				RNA	SNP	ENST00000424345.1	37																																																																																					0.418	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			
MIR4477B	100616194	broad.mit.edu	37	9	68414462	68414462	+	RNA	SNP	A	A	G	rs149255248		TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:68414462A>G	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		ctcattgaccactctgaaaat	0.438																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68414462A>G				RNA	SNP	ENST00000581659.1	37																																																																																					0.438	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
TUBB4B	10383	broad.mit.edu	37	9	140137360	140137360	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:140137360T>C	ENST00000340384.4	+	4	838	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	230					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.S230S(1)								Albendazole(DB00518)|Mebendazole(DB00643)	ACCTGGTGTCTGCTACCATGA	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	40.0	40.0					9																	140137360		2202	4297	6499	SO:0001819	synonymous_variant	0			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.690T>C	9.37:g.140137360T>C			A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	CCDS7039.1																																																																																				0.572	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1		NM_006088	
WDR36	134430	broad.mit.edu	37	5	110428209	110428209	+	Missense_Mutation	SNP	G	G	T	rs369810645		TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:110428209G>T	ENST00000513710.2	+	1	227	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	WDR36_ENST00000505303.1_Missense_Mutation_p.A19S|WDR36_ENST00000506538.2_Missense_Mutation_p.A75S|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	75					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A75S(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGGGTTCCGGGCCTTGGGACT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											35.0	40.0	39.0					5																	110428209		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.223G>T	5.37:g.110428209G>T	ENSP00000424628:p.Ala75Ser		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911016	0.72983	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.69175	-0.38;-0.38;0.15	5.98	5.98	0.97165	.	0.108661	0.64402	D	0.000007	T	0.62060	0.2397	L	0.52573	1.65	0.51482	D	0.999926	B	0.26902	0.163	B	0.24394	0.053	T	0.61739	-0.7001	10	0.87932	D	0	-11.121	14.1106	0.65120	0.0:0.0:0.8496:0.1504	.	75	Q8NI36	WDR36_HUMAN	S	75;75;19	ENSP00000423067:A75S;ENSP00000424628:A75S;ENSP00000422158:A19S	ENSP00000422158:A19S	A	+	1	0	WDR36	110456108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.382000	0.66213	2.835000	0.97688	0.650000	0.86243	GCC		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281	
WDR87	83889	broad.mit.edu	37	19	38385920	38385920	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:38385920T>G	ENST00000303868.5	-	4	530	c.306A>C	c.(304-306)aaA>aaC	p.K102N	WDR87_ENST00000447313.2_Missense_Mutation_p.K141N	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	102								p.K102N(4)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TACCCAGGGGTTTGAATGCCC	0.557																																																	4	Substitution - Missense(4)	endometrium(3)|kidney(1)											110.0	98.0	102.0					19																	38385920		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.306A>C	19.37:g.38385920T>G	ENSP00000368025:p.Lys102Asn		Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197268	0.38806	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	D;D	0.81659	-1.52;-1.52	5.77	-1.69	0.08186	WD40/YVTN repeat-like-containing domain (1);	0.103382	0.41823	D	0.000801	T	0.81446	0.4824	L	0.50333	1.59	0.20563	N	0.999886	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.70219	-0.4932	10	0.49607	T	0.09	-14.9335	5.8193	0.18518	0.0:0.4772:0.1566:0.3662	.	102;141	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	N	141;102	ENSP00000405012:K141N;ENSP00000368025:K102N	ENSP00000368025:K102N	K	-	3	2	WDR87	43077760	0.409000	0.25368	0.860000	0.33809	0.790000	0.44656	0.143000	0.16115	0.077000	0.16863	-0.263000	0.10527	AAA		0.557	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2		XM_940478	
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167000259	167000259	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:167000259G>C	ENST00000392766.2	-	19	2244	c.1904C>G	c.(1903-1905)aCa>aGa	p.T635R	ZBBX_ENST00000307529.5_Missense_Mutation_p.T674R|ZBBX_ENST00000455345.2_Missense_Mutation_p.T674R|ZBBX_ENST00000392767.2_Missense_Mutation_p.T635R|ZBBX_ENST00000392764.1_Missense_Mutation_p.T606R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	635						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T674R(1)|p.T635R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAATTTGCTGTTGAAGGTCT	0.338																																																	2	Substitution - Missense(2)	kidney(2)											122.0	117.0	119.0					3																	167000259		1816	4066	5882	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1904C>G	3.37:g.167000259G>C	ENSP00000376519:p.Thr635Arg		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771226	0.31320	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12039	2.89;2.89;2.77;2.77;2.72	5.28	4.41	0.53225	.	0.395966	0.22197	N	0.063289	T	0.23410	0.0566	L	0.50333	1.59	0.27465	N	0.953043	D;D	0.61080	0.989;0.982	P;P	0.56042	0.79;0.621	T	0.03761	-1.1006	10	0.72032	D	0.01	-3.1007	9.925	0.41487	0.0938:0.0:0.9062:0.0	.	674;635	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	635;635;674;674;606	ENSP00000376519:T635R;ENSP00000376520:T635R;ENSP00000390232:T674R;ENSP00000305065:T674R;ENSP00000376517:T606R	ENSP00000305065:T674R	T	-	2	0	ZBBX	168482953	1.000000	0.71417	0.987000	0.45799	0.024000	0.10985	3.965000	0.56788	1.231000	0.43661	0.650000	0.86243	ACA		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3		NM_024687	
ZBTB33	10009	hgsc.bcm.edu	37	X	119387854	119387854	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chrX:119387854T>A	ENST00000326624.2	+	2	812	c.584T>A	c.(583-585)gTc>gAc	p.V195D	ZBTB33_ENST00000557385.1_Missense_Mutation_p.V195D	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	195					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						gatgatgatgTCATTTTTTGC	0.388																																																	0													48.0	42.0	44.0					X																	119387854		2203	4299	6502	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.584T>A	X.37:g.119387854T>A	ENSP00000314153:p.Val195Asp		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207952	0.58343	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.20738	2.05;2.05	5.96	5.96	0.96718	.	0.060174	0.64402	D	0.000003	T	0.41949	0.1181	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.62955	0.909	T	0.30504	-0.9976	10	0.72032	D	0.01	-4.5841	14.4615	0.67453	0.0:0.0:0.0:1.0	.	195	Q86T24	KAISO_HUMAN	D	195	ENSP00000314153:V195D;ENSP00000450969:V195D	ENSP00000314153:V195D	V	+	2	0	ZBTB33;AC002086.1	119271882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.567000	0.82357	2.014000	0.59158	0.481000	0.45027	GTC		0.388	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2		NM_006777	
ZNF700	90592	broad.mit.edu;hgsc.bcm.edu	37	19	12060408	12060408	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:12060408T>C	ENST00000254321.5	+	4	1712	c.1569T>C	c.(1567-1569)ttT>ttC	p.F523F	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.F505F|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	523					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.F523F(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCAAGTCATTTCAAACACATG	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	64.0	64.0					19																	12060408		2203	4300	6503	SO:0001819	synonymous_variant	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1569T>C	19.37:g.12060408T>C			B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																				0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2		NM_144566	
ZNF7	7553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146067912	146067912	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr8:146067912T>C	ENST00000528372.1	+	5	1660	c.1420T>C	c.(1420-1422)Tgt>Cgt	p.C474R	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.C485R|ZNF7_ENST00000544249.1_Missense_Mutation_p.C378R|ZNF7_ENST00000325241.6_Missense_Mutation_p.C474R|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	474					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C474R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		ATGTGATGAGTGTGGCAAAGG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											78.0	70.0	73.0					8																	146067912		2203	4300	6503	SO:0001583	missense	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1420T>C	8.37:g.146067912T>C	ENSP00000432724:p.Cys474Arg		B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918080	0.73098	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000096	D	0.95645	0.8584	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97207	0.9868	9	.	.	.	-14.576	13.691	0.62547	0.0:0.0:0.0:1.0	.	485;474	B4DT08;P17097	.;ZNF7_HUMAN	R	474;485;378;474	ENSP00000320627:C474R;ENSP00000393260:C485R;ENSP00000439424:C378R;ENSP00000432724:C474R	.	C	+	1	0	ZNF7	146038716	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.455000	0.66658	2.073000	0.62155	0.533000	0.62120	TGT		0.428	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1		NM_003416	
