#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAM23	8745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207413075	207413075	+	Silent	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:207413075G>T	ENST00000264377.3	+	8	1192	c.864G>T	c.(862-864)gtG>gtT	p.V288V	ADAM23_ENST00000374415.3_Silent_p.V288V|ADAM23_ENST00000374416.1_Silent_p.V288V	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	288					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V288V(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGAGAGCAGTGAATGTGAGTG	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)												2	Substitution - coding silent(2)	kidney(2)											124.0	122.0	122.0					2																	207413075		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.864G>T	2.37:g.207413075G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU59	Silent	SNP	ENST00000264377.3	37	CCDS2369.1																																																																																				0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812	
ADH5	128	broad.mit.edu;hgsc.bcm.edu	37	4	99997942	99997942	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:99997942T>A	ENST00000296412.8	-	5	527	c.477A>T	c.(475-477)aaA>aaT	p.K159N	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.K159N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		AAGGATCTATTTTAGCAACAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											68.0	62.0	64.0					4																	99997942		1880	4117	5997	SO:0001583	missense	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.477A>T	4.37:g.99997942T>A	ENSP00000296412:p.Lys159Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000296412.8	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855337	0.71719	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.04317	3.65;3.65	5.1	2.64	0.31445	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	M	0.87180	2.865	0.80722	D	1	P;P;P	0.38148	0.62;0.62;0.62	P;P;P	0.44921	0.464;0.464;0.464	T	0.00735	-1.1588	9	.	.	.	.	8.7039	0.34343	0.0:0.2394:0.0:0.7605	.	159;159;159	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	N	159;146	ENSP00000296412:K159N;ENSP00000427049:K146N	.	K	-	3	2	ADH5	100216965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.279000	0.51670	0.497000	0.27926	-0.297000	0.09499	AAA		0.423	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1		NM_000671	
AGAP7P	653268	hgsc.bcm.edu	37	10	51485991	51485991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:51485991delC	ENST00000374095.5	-	1	336	c.211delG	c.(211-213)gagfs	p.E71fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		71					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCAGGCATCTCCCGGTCACGA	0.592																																																	0													1.0	1.0	1.0					10																	51485991		7	1	8	SO:0001589	frameshift_variant	653268																														ENST00000374095.5:c.211delG	10.37:g.51485991delC	ENSP00000363208:p.Glu71fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGH4	Frame_Shift_Del	DEL	ENST00000374095.5	37	CCDS41524.1																																																																																				0.592	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			
LVRN	206338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115327884	115327884	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:115327884T>A	ENST00000357872.4	+	5	1294	c.1170T>A	c.(1168-1170)gaT>gaA	p.D390E	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		390						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D390E(1)									TGATATTTGATGAATCAGGAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											131.0	139.0	136.0					5																	115327884		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.1170T>A	5.37:g.115327884T>A	ENSP00000350541:p.Asp390Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	4.038	0.004544	0.07866	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02369	4.32	5.81	3.45	0.39498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.195330	0.35495	N	0.003180	T	0.02610	0.0079	N	0.24115	0.695	0.80722	D	1	B	0.30563	0.285	B	0.38921	0.285	T	0.58272	-0.7665	10	0.20046	T	0.44	.	5.605	0.17374	0.0:0.1576:0.145:0.6975	.	390	Q6Q4G3	AMPQ_HUMAN	E	390;379	ENSP00000350541:D390E	ENSP00000350541:D390E	D	+	3	2	AC010282.1	115355783	0.911000	0.30947	0.996000	0.52242	0.886000	0.51366	-0.112000	0.10791	0.477000	0.27464	0.533000	0.62120	GAT		0.373	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			
ARHGAP26	23092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142150382	142150382	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:142150382G>T	ENST00000274498.4	+	1	434	c.56G>T	c.(55-57)cGa>cTa	p.R19L	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.R19L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	19					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R19L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCACTTCCGAGAGACGCTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											50.0	44.0	46.0					5																	142150382		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.56G>T	5.37:g.142150382G>T	ENSP00000274498:p.Arg19Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295911	0.95574	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.14640	2.49;2.49	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.50101	-0.8867	10	0.87932	D	0	.	13.4173	0.60976	0.0768:0.0:0.9232:0.0	.	19;19	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	L	19	ENSP00000274498:R19L;ENSP00000367243:R19L	ENSP00000274498:R19L	R	+	2	0	ARHGAP26	142130566	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.450000	0.97607	1.370000	0.46153	-0.251000	0.11542	CGA		0.642	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071	
ARID1B	57492	broad.mit.edu;hgsc.bcm.edu	37	6	157469827	157469827	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:157469827T>A	ENST00000350026.5	+	8	2583	c.2582T>A	c.(2581-2583)aTg>aAg	p.M861K	ARID1B_ENST00000367148.1_Missense_Mutation_p.M861K|ARID1B_ENST00000346085.5_Missense_Mutation_p.M874K|ARID1B_ENST00000275248.4_Missense_Mutation_p.M803K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	861					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M874K(1)|p.M803K(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCCCGGTATGGGTATCAGT	0.557																																																	2	Substitution - Missense(2)	kidney(2)											89.0	85.0	86.0					6																	157469827		2203	4296	6499	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2582T>A	6.37:g.157469827T>A	ENSP00000055163:p.Met861Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812275	0.90707	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	6.17	6.17	0.99709	.	0.171861	0.64402	D	0.000008	T	0.19446	0.0467	N	0.19112	0.55	0.58432	D	0.999999	B;D;P;P;P	0.63880	0.437;0.993;0.627;0.744;0.744	B;P;B;B;B	0.53062	0.189;0.717;0.196;0.359;0.359	T	0.02275	-1.1184	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	111;245;861;874;803	Q8NFD5-4;F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;.;ARI1B_HUMAN;.;.	K	874;861;861;803;278;245;330;283	ENSP00000344546:M874K;ENSP00000055163:M861K;ENSP00000356116:M861K;ENSP00000275248:M803K;ENSP00000412835:M330K;ENSP00000313006:M283K	ENSP00000275248:M803K	M	+	2	0	ARID1B	157511519	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.177000	0.77650	2.371000	0.80710	0.533000	0.62120	ATG		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732	
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76875909	76875909	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chrX:76875909C>A	ENST00000373344.5	-	20	5440	c.5226G>T	c.(5224-5226)agG>agT	p.R1742S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1704S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1742	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth). {ECO:0000269|PubMed:10417298}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1742S(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAATAATCCTCCTCCTTGATC	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											85.0	72.0	76.0					X																	76875909		2202	4293	6495	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5226G>T	X.37:g.76875909C>A	ENSP00000362441:p.Arg1742Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394317|3.394317	0.62066|0.62066	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.92965	.|-3.14;-3.14	4.57|4.57	3.7|3.7	0.42460|0.42460	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94414|0.94414	0.8203|0.8203	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.996;1.0	.|D;D	.|0.91635	.|0.99;0.999	D|D	0.93112|0.93112	0.6517|0.6517	5|10	.|0.87932	.|D	.|0	-8.0158|-8.0158	6.9983|6.9983	0.24795|0.24795	0.0:0.6856:0.0:0.3144|0.0:0.6856:0.0:0.3144	.|.	.|1704;1742	.|P46100-4;P46100	.|.;ATRX_HUMAN	V|S	31|1742;1704	.|ENSP00000362441:R1742S;ENSP00000378967:R1704S	.|ENSP00000362441:R1742S	G|R	-|-	2|3	0|2	ATRX|ATRX	76762565|76762565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.348000|2.348000	0.44045|0.44045	0.710000|0.710000	0.31997|0.31997	0.600000|0.600000	0.82982|0.82982	GGA|AGG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489	
BCL2A1	597	broad.mit.edu;hgsc.bcm.edu	37	15	80253460	80253460	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:80253460T>A	ENST00000267953.3	-	2	803	c.477A>T	c.(475-477)gaA>gaT	p.E159D	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	159					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E159D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTCCTGTAACTTCTAGAAAAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											93.0	90.0	91.0					15																	80253460		2203	4300	6503	SO:0001583	missense	597				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.477A>T	15.37:g.80253460T>A	ENSP00000267953:p.Glu159Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	T	3.425	-0.117290	0.06838	.	.	ENSG00000140379	ENST00000267953	T	0.08370	3.1	4.13	1.26	0.21427	.	0.761453	0.12106	N	0.499051	T	0.03477	0.0100	N	0.12746	0.255	0.25742	N	0.985149	B	0.06786	0.001	B	0.06405	0.002	T	0.46400	-0.9194	10	0.12103	T	0.63	-26.16	2.6027	0.04870	0.2993:0.1323:0.0:0.5684	.	159	Q16548	B2LA1_HUMAN	D	159	ENSP00000267953:E159D	ENSP00000267953:E159D	E	-	3	2	BCL2A1	78040515	0.590000	0.26815	0.647000	0.29507	0.348000	0.29142	0.476000	0.22180	0.571000	0.29365	0.454000	0.30748	GAA		0.348	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1		NM_004049	
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2675675	2675675	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:2675675C>G	ENST00000347598.4	+	12	1596	c.1596C>G	c.(1594-1596)ttC>ttG	p.F532L	CACNA1C_ENST00000399617.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.F532L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F532L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.F557L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.F532L|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000406454.3_Missense_Mutation_p.F532L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.F532L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	532					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F532L(3)|p.F67L(1)|p.F562L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGATTTTCCTGGTGTTCC	0.587																																																	5	Substitution - Missense(5)	kidney(5)											43.0	50.0	48.0					12																	2675675		1999	4175	6174	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1596C>G	12.37:g.2675675C>G	ENSP00000266376:p.Phe532Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.898002	0.33535	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	N	0.04686	-0.185	0.58432	D	0.999999	B;D;B;B;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.64830	0.001;0.993;0.394;0.001;0.987;0.993;0.99;0.993;0.003;0.003;0.993;0.99;0.001;0.988;0.982;0.989;0.982;0.005;0.994;0.005;0.982;0.993;0.993;0.982;0.982;0.99	B;D;B;B;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.79108	0.001;0.981;0.255;0.001;0.974;0.99;0.979;0.99;0.006;0.009;0.99;0.979;0.006;0.992;0.952;0.977;0.961;0.006;0.981;0.006;0.961;0.99;0.99;0.961;0.961;0.979	D	0.90828	0.4714	10	0.08179	T	0.78	.	12.4932	0.55912	0.0:0.9241:0.0:0.0759	.	201;532;529;532;532;532;532;532;532;532;532;532;503;532;532;532;532;532;532;532;532;532;532;532;532;532	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	557;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;373	ENSP00000336982:F557L;ENSP00000382563:F532L;ENSP00000437936:F532L;ENSP00000382552:F532L;ENSP00000382547:F532L;ENSP00000382506:F532L;ENSP00000382530:F532L;ENSP00000382546:F532L;ENSP00000382500:F532L;ENSP00000382549:F532L;ENSP00000266376:F532L;ENSP00000382515:F532L;ENSP00000382510:F532L;ENSP00000341092:F532L;ENSP00000382537:F532L;ENSP00000329877:F532L;ENSP00000382557:F532L;ENSP00000385724:F532L;ENSP00000382512:F532L;ENSP00000382542:F532L;ENSP00000382526:F532L;ENSP00000385896:F532L;ENSP00000382504:F532L	ENSP00000323129:F373L	F	+	3	2	CACNA1C	2545936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.548000	0.45794	2.769000	0.95229	0.563000	0.77884	TTC		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CD300LB	124599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72522164	72522164	+	Silent	SNP	G	G	T	rs111972938		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:72522164G>T	ENST00000392621.1	-	2	208	c.204C>A	c.(202-204)tcC>tcA	p.S68S	CD300LB_ENST00000314401.3_Silent_p.S68S	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	31	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S68S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAACCGTCAGGGACCCCTGCT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	126.0	128.0					17																	72522164		2203	4300	6503	SO:0001819	synonymous_variant	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.204C>A	17.37:g.72522164G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	CCDS11700.1																																																																																				0.542	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2		NM_174892	
CDH3	1001	broad.mit.edu;hgsc.bcm.edu	37	16	68721619	68721619	+	Missense_Mutation	SNP	C	C	T	rs145851551		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:68721619C>T	ENST00000264012.4	+	12	2319	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	CDH3_ENST00000429102.2_Missense_Mutation_p.T592M|CDH3_ENST00000581171.1_Missense_Mutation_p.T537M	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.T592M(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATCTACTGGACGGCAGAGGTC	0.617																																																	3	Unknown(2)|Substitution - Missense(1)	breast(2)|kidney(1)						C	MET/THR	1,4395	2.1+/-5.4	0,1,2197	98.0	72.0	81.0		1775	-1.3	0.4	16	dbSNP_134	81	0,8600		0,0,4300	yes	missense	CDH3	NM_001793.4	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	592/830	68721619	1,12995	2198	4300	6498	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1775C>T	16.37:g.68721619C>T	ENSP00000264012:p.Thr592Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	2.927	-0.221796	0.06061	2.27E-4	0.0	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61040	0.14;0.14	5.05	-1.26	0.09376	Cadherin (1);Cadherin-like (1);	0.837651	0.10049	N	0.722465	T	0.37758	0.1015	L	0.43152	1.355	0.18873	N	0.999986	P	0.35872	0.525	B	0.21708	0.036	T	0.21109	-1.0255	10	0.52906	T	0.07	.	3.4242	0.07405	0.2784:0.3137:0.0:0.4079	.	592	P22223	CADH3_HUMAN	M	592;592;537	ENSP00000398485:T592M;ENSP00000264012:T592M	ENSP00000264012:T592M	T	+	2	0	CDH3	67279120	0.000000	0.05858	0.430000	0.26722	0.115000	0.19883	-0.527000	0.06200	-0.147000	0.11254	-0.217000	0.12591	ACG		0.617	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		NM_001793	
CELF3	11189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151688472	151688472	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:151688472G>A	ENST00000290583.4	-	1	818	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	AL589765.1_ENST00000442233.2_Intron|CELF3_ENST00000290585.4_Silent_p.L9L|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	9	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L9L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCCACAAACAGCTTGATGGCA	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	70.0	72.0					1																	151688472		2203	4300	6503	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.25C>T	1.37:g.151688472G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1																																																																																				0.597	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2		NM_007185	
CES2	8824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66973125	66973125	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:66973125T>C	ENST00000317091.4	+	3	1463	c.479T>C	c.(478-480)cTa>cCa	p.L160P	CES2_ENST00000417689.1_Missense_Mutation_p.L160P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	96					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.L160P(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ACCAGGTGTCTACAGGACCTC	0.562																																					Ovarian(70;1230 1691 37888 38351)												1	Substitution - Missense(1)	kidney(1)											119.0	110.0	113.0					16																	66973125		2200	4300	6500	SO:0001583	missense	8824			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.479T>C	16.37:g.66973125T>C	ENSP00000317842:p.Leu160Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	T	9.067	0.995875	0.19043	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66638	-0.22;-0.22	5.36	1.93	0.25924	Carboxylesterase, type B (1);	0.503112	0.16698	N	0.203273	T	0.51126	0.1656	N	0.13043	0.29	0.52501	D	0.99995	B;B	0.33212	0.19;0.402	B;B	0.40375	0.327;0.168	T	0.42430	-0.9452	10	0.49607	T	0.09	.	7.9538	0.30029	0.0:0.2435:0.0:0.7565	.	96;160	O00748;A8K367	EST2_HUMAN;.	P	160	ENSP00000394452:L160P;ENSP00000317842:L160P	ENSP00000317842:L160P	L	+	2	0	CES2	65530626	0.303000	0.24463	0.605000	0.28930	0.013000	0.08279	1.585000	0.36600	0.140000	0.18849	-0.256000	0.11100	CTA		0.562	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2		NM_003869	
CHEK2	11200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	29121349	29121349	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr22:29121349A>C	ENST00000405598.1	-	4	517	c.326T>G	c.(325-327)gTg>gGg	p.V109G	CHEK2_ENST00000328354.6_Missense_Mutation_p.V109G|CHEK2_ENST00000402731.1_Missense_Mutation_p.V109G|CHEK2_ENST00000404276.1_Missense_Mutation_p.V109G|CHEK2_ENST00000348295.3_Missense_Mutation_p.V109G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.V152G|CHEK2_ENST00000382566.1_Missense_Mutation_p.V109G|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	109					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V109G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTGTCATTCACACATTCTGT	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	kidney(1)											138.0	129.0	132.0					22																	29121349		2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.326T>G	22.37:g.29121349A>C	ENSP00000386087:p.Val109Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371713	0.61624	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.71	5.71	0.89125	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.397572	0.29225	N	0.012768	D	0.85261	0.5656	L	0.50333	1.59	0.58432	D	0.999998	P;P;P;B;P	0.48764	0.915;0.839;0.893;0.415;0.823	B;B;B;B;B	0.41088	0.275;0.205;0.347;0.184;0.333	T	0.83308	-0.0024	10	0.15952	T	0.53	-4.8565	15.1629	0.72798	1.0:0.0:0.0:0.0	.	109;109;109;109;152	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	G	109;109;109;109;109;152;109;109;140;119	ENSP00000329012:V109G;ENSP00000372007:V109G;ENSP00000329178:V109G;ENSP00000385747:V109G;ENSP00000386087:V109G;ENSP00000372023:V152G;ENSP00000384835:V109G;ENSP00000397478:V109G;ENSP00000408065:V140G;ENSP00000381099:V119G	ENSP00000329178:V109G	V	-	2	0	CHEK2	27451349	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	3.822000	0.55708	2.180000	0.69256	0.377000	0.23210	GTG		0.353	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735	
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48388230	48388230	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:48388230C>T	ENST00000380518.3	-	12	957	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E196K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	265	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E265K(1)|p.E196K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGACCCCTTTCACCAGCTTTT	0.577																																																	2	Substitution - Missense(2)	kidney(2)											116.0	98.0	104.0					12																	48388230		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.793G>A	12.37:g.48388230C>T	ENSP00000369889:p.Glu265Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385322	0.82792	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93189	-3.18;-3.18	3.91	3.91	0.45181	.	0.059570	0.64402	D	0.000005	D	0.95993	0.8695	M	0.72576	2.205	0.80722	D	1	P;P	0.51351	0.931;0.944	D;D	0.72982	0.964;0.979	D	0.95576	0.8642	10	0.48119	T	0.1	.	15.8912	0.79299	0.0:1.0:0.0:0.0	.	196;265	P02458-1;P02458	.;CO2A1_HUMAN	K	265;196;196	ENSP00000369889:E265K;ENSP00000338213:E196K	ENSP00000338213:E196K	E	-	1	0	COL2A1	46674497	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	5.692000	0.68256	2.478000	0.83669	0.561000	0.74099	GAA		0.577	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844	
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225360600	225360600	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:225360600G>T	ENST00000264414.4	-	13	2129	c.1791C>A	c.(1789-1791)ttC>ttA	p.F597L	CUL3_ENST00000344951.4_Missense_Mutation_p.F531L|CUL3_ENST00000409096.1_Missense_Mutation_p.F573L|CUL3_ENST00000409777.1_Missense_Mutation_p.F573L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	597					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.F597L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGTCATCTGGAAAGTGGAAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											143.0	134.0	137.0					2																	225360600		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1791C>A	2.37:g.225360600G>T	ENSP00000264414:p.Phe597Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816074|2.816074	0.50527|0.50527	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000451538	T;T;T;T|.	0.74002|.	-0.8;-0.8;-0.8;-0.8|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26902|.	0.061;0.163;0.134;0.163|.	B;B;B;B|.	0.30105|.	0.045;0.111;0.067;0.111|.	T|T	0.68187|0.68187	-0.5475|-0.5475	10|5	0.66056|.	D|.	0.02|.	.|.	19.5255|19.5255	0.95203|0.95203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	531;575;573;597|.	Q13618-3;Q53S54;Q13618-2;Q13618|.	.;.;.;CUL3_HUMAN|.	L|T	597;531;573;573|51	ENSP00000264414:F597L;ENSP00000343601:F531L;ENSP00000387200:F573L;ENSP00000386525:F573L|.	ENSP00000264414:F597L|.	F|P	-|-	3|1	2|0	CUL3|CUL3	225068844|225068844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.814000|4.814000	0.62627|0.62627	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	TTC|CCA		0.343	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43188337	43188337	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:43188337G>A	ENST00000252050.4	+	32	6507	c.6423G>A	c.(6421-6423)aaG>aaA	p.K2141K	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Splice_Site_p.K2113K|CUL9_ENST00000354495.3_Splice_Site_p.K2031K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2141					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.K2141K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCATCTCCAAGGTATCCCCTC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	94.0	93.0					6																	43188337		2203	4300	6503	SO:0001630	splice_region_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6423+1G>A	6.37:g.43188337G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089	Silent
DAO	1610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109290797	109290797	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:109290797A>G	ENST00000228476.3	+	8	832	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	DAO_ENST00000551281.1_Missense_Mutation_p.M144V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	210					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.M210V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CGCCCCTTGGATGAAGCACTT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											146.0	114.0	125.0					12																	109290797		2203	4300	6503	SO:0001583	missense	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.628A>G	12.37:g.109290797A>G	ENSP00000228476:p.Met210Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.209146	0.01568	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.80738	-1.41;-1.41;-1.41	5.74	-2.83	0.05769	FAD dependent oxidoreductase (1);	0.648939	0.18295	N	0.145602	T	0.41789	0.1174	N	0.02379	-0.575	0.24703	N	0.993244	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47114	-0.9142	10	0.02654	T	1	-29.5459	0.6303	0.00793	0.4238:0.1217:0.2181:0.2364	.	210;193	P14920;Q7Z312	OXDA_HUMAN;.	V	144;210;87	ENSP00000446853:M144V;ENSP00000228476:M210V;ENSP00000449967:M87V	ENSP00000228476:M210V	M	+	1	0	DAO	107814926	0.995000	0.38212	0.528000	0.27938	0.193000	0.23685	0.348000	0.20031	-0.113000	0.11958	0.459000	0.35465	ATG		0.542	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			
DDX20	11218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112308358	112308358	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:112308358G>A	ENST00000369702.4	+	11	1932		c.e11-1		DDX20_ENST00000536167.1_Splice_Site|DDX20_ENST00000475700.1_Splice_Site	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.?(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTATGTAGATCCCATTCC	0.348																																																	1	Unknown(1)	kidney(1)											111.0	116.0	114.0					1																	112308358		2203	4300	6503	SO:0001630	splice_region_variant	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1313-1G>A	1.37:g.112308358G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Splice_Site	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621029	0.46736	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX20	112109881	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	7.891000	0.87319	2.669000	0.90835	0.655000	0.94253	.		0.348	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204	Intron
DLX3	1747	broad.mit.edu;hgsc.bcm.edu	37	17	48069215	48069215	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:48069215A>T	ENST00000434704.2	-	3	755	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	DLX3_ENST00000512495.2_Missense_Mutation_p.F57Y	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	177					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F177Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCGGTTCTGGAACCAGATTTT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											70.0	68.0	69.0					17																	48069215		2203	4300	6503	SO:0001583	missense	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.530T>A	17.37:g.48069215A>T	ENSP00000389870:p.Phe177Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068337	0.76301	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.99719	-6.52;-6.52	4.38	4.38	0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98168	1.0450	10	0.56958	D	0.05	-30.4528	11.6118	0.51064	1.0:0.0:0.0:0.0	.	177	O60479	DLX3_HUMAN	Y	177;57	ENSP00000389870:F177Y;ENSP00000449976:F57Y	ENSP00000389870:F177Y	F	-	2	0	DLX3	45424214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	1.850000	0.53721	0.459000	0.35465	TTC		0.502	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			
DNAJC11	55735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6704634	6704634	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:6704634C>T	ENST00000377577.5	-	10	1204	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I	DNAJC11_ENST00000542246.1_Missense_Mutation_p.V323I|DNAJC11_ENST00000377573.5_Missense_Mutation_p.V271I|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.V361I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	361						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V361I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAGAGAAACACCCTGTGGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											86.0	79.0	81.0					1																	6704634		2203	4300	6503	SO:0001583	missense	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1081G>A	1.37:g.6704634C>T	ENSP00000366800:p.Val361Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229161	0.58777	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.28454	2.31;2.36;1.98;1.61	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	L	0.46947	1.48	0.80722	D	1	B;B;B	0.30727	0.016;0.29;0.292	B;B;B	0.34418	0.02;0.182;0.166	T	0.04870	-1.0921	10	0.17369	T	0.5	-15.2857	17.5893	0.87991	0.0:1.0:0.0:0.0	.	271;361;361	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	I	361;361;323;271	ENSP00000366800:V361I;ENSP00000294401:V361I;ENSP00000444020:V323I;ENSP00000366796:V271I	ENSP00000294401:V361I	V	-	1	0	DNAJC11	6627221	1.000000	0.71417	0.984000	0.44739	0.874000	0.50279	7.081000	0.76844	2.624000	0.88883	0.585000	0.79938	GTT		0.512	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198	
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169145692	169145692	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:169145692G>C	ENST00000256935.8	+	22	2244	c.2164G>C	c.(2164-2166)Gat>Cat	p.D722H	DOCK2_ENST00000520908.1_Missense_Mutation_p.D214H|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	722					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D722H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACTTACTTGGATACCTCCAG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											122.0	105.0	111.0					5																	169145692		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2164G>C	5.37:g.169145692G>C	ENSP00000256935:p.Asp722His	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711136	0.89112	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.19938	2.11;2.11	5.58	5.58	0.84498	.	0.047476	0.85682	D	0.000000	T	0.47525	0.1450	M	0.76727	2.345	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.87	T	0.40308	-0.9570	10	0.52906	T	0.07	.	19.6412	0.95758	0.0:0.0:1.0:0.0	.	214;722	E7ERW7;Q92608	.;DOCK2_HUMAN	H	722;214	ENSP00000256935:D722H;ENSP00000429283:D214H	ENSP00000256935:D722H	D	+	1	0	DOCK2	169078270	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.985000	0.88162	2.661000	0.90470	0.644000	0.83932	GAT		0.378	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946	
DPT	1805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168698362	168698362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:168698362C>T	ENST00000367817.3	-	1	140	c.51G>A	c.(49-51)tgG>tgA	p.W17*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	17					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.W17*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CATACTGGCCCCAGGCCATGG	0.517																																																	1	Substitution - Nonsense(1)	kidney(1)											51.0	45.0	47.0					1																	168698362		2203	4300	6503	SO:0001587	stop_gained	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.51G>A	1.37:g.168698362C>T	ENSP00000356791:p.Trp17*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K981|Q8N4R2|Q9UIX8	Nonsense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	37	6.291522	0.97449	.	.	ENSG00000143196	ENST00000367817	.	.	.	5.08	5.08	0.68730	.	0.626869	0.16760	N	0.200657	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8304	18.0564	0.89365	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000356791:W17X	W	-	3	0	DPT	166964986	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.251000	0.65438	2.338000	0.79540	0.655000	0.94253	TGG		0.517	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1		NM_001937	
EIF4G2	1982	broad.mit.edu;hgsc.bcm.edu	37	11	10820873	10820873	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:10820873A>G	ENST00000526148.1	-	20	2933	c.2423T>C	c.(2422-2424)cTa>cCa	p.L808P	EIF4G2_ENST00000396525.2_Missense_Mutation_p.L770P|EIF4G2_ENST00000339995.5_Missense_Mutation_p.L808P|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.L808P|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L808P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGATAGTAGTAGTTGTTTTTC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											139.0	129.0	132.0					11																	10820873		2201	4294	6495	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2423T>C	11.37:g.10820873A>G	ENSP00000433664:p.Leu808Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860202	0.71834	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.21932	1.99;1.99;1.99;1.98	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.81802	2.56	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.56902	-0.7902	9	0.87932	D	0	-4.2444	16.6406	0.85098	1.0:0.0:0.0:0.0	.	808;881	P78344;B4DZF2	IF4G2_HUMAN;.	P	808;808;808;770;881;156;190	ENSP00000433664:L808P;ENSP00000433371:L808P;ENSP00000340281:L808P;ENSP00000379778:L770P	ENSP00000340281:L808P	L	-	2	0	EIF4G2	10777449	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.936000	0.70153	2.326000	0.78906	0.533000	0.62120	CTA		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418	
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212576841	212576841	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:212576841A>T	ENST00000342788.4	-	9	1368	c.1058T>A	c.(1057-1059)aTt>aAt	p.I353N	ERBB4_ENST00000402597.1_Missense_Mutation_p.I353N|ERBB4_ENST00000436443.1_Missense_Mutation_p.I353N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	353					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I353N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAATTTGTCAATGTTACTGGA	0.373										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	kidney(1)											106.0	98.0	101.0					2																	212576841		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1058T>A	2.37:g.212576841A>T	ENSP00000342235:p.Ile353Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378663|4.378663	0.82682|0.82682	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.113955|.	0.64402|.	D|.	0.000005|.	D|D	0.84642|0.84642	0.5517|0.5517	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;0.996|.	D;D;D;D;P|.	0.97110|.	1.0;0.999;0.986;0.996;0.825|.	D|D	0.88652|0.88652	0.3183|0.3183	10|5	0.87932|.	D|.	0|.	.|.	14.7699|14.7699	0.69668|0.69668	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	353;353;212;353;353|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	N|M	353|353	ENSP00000342235:I353N;ENSP00000403204:I353N;ENSP00000385565:I353N|.	ENSP00000342235:I353N|.	I|L	-|-	2|1	0|2	ERBB4|ERBB4	212285086|212285086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	1.891000|1.891000	0.54761|0.54761	0.383000|0.383000	0.25322|0.25322	ATT|TTG		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599	
ERI2	112479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20810063	20810063	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:20810063C>T	ENST00000357967.4	-	9	1101	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	ERI2_ENST00000569729.1_Intron|ERI2_ENST00000389345.5_Missense_Mutation_p.M88I|ERI2_ENST00000564349.1_Missense_Mutation_p.M260I|ERI2_ENST00000563117.1_Missense_Mutation_p.M260I|ERI2_ENST00000300005.3_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	353							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M353I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTGCTTTTGCATATAGATAG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											102.0	88.0	92.0					16																	20810063		692	1591	2283	SO:0001583	missense	112479			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1059G>A	16.37:g.20810063C>T	ENSP00000350651:p.Met353Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374930	0.11409	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.15834	2.43;2.39	5.86	-0.61	0.11604	.	1.586550	0.03135	N	0.165841	T	0.14013	0.0339	L	0.48362	1.52	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	10	0.26408	T	0.33	0.1762	1.7231	0.02916	0.3179:0.3293:0.2057:0.1471	.	353	A8K979	ERI2_HUMAN	I	353;88	ENSP00000350651:M353I;ENSP00000373996:M88I	ENSP00000350651:M353I	M	-	3	0	ERI2	20717564	0.179000	0.23135	0.818000	0.32626	0.737000	0.42083	-0.119000	0.10676	0.292000	0.22492	0.655000	0.94253	ATG		0.383	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_080663	
ERP27	121506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15087884	15087884	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:15087884T>C	ENST00000266397.2	-	3	812	c.239A>G	c.(238-240)cAa>cGa	p.Q80R		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	80	Thioredoxin.					endoplasmic reticulum (GO:0005783)		p.Q80R(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGGGAATTTTTGCACCATGCT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											98.0	83.0	88.0					12																	15087884		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.239A>G	12.37:g.15087884T>C	ENSP00000266397:p.Gln80Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000266397.2	37	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	3.955	-0.011435	0.07727	.	.	ENSG00000139055	ENST00000266397	T	0.28666	1.6	4.99	0.861	0.19048	Thioredoxin-like fold (2);	0.818368	0.11316	N	0.576527	T	0.15305	0.0369	N	0.25144	0.715	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27191	-1.0081	10	0.21014	T	0.42	-11.462	1.769	0.03008	0.1662:0.0927:0.1725:0.5686	.	80	Q96DN0	ERP27_HUMAN	R	80	ENSP00000266397:Q80R	ENSP00000266397:Q80R	Q	-	2	0	ERP27	14979151	0.001000	0.12720	0.003000	0.11579	0.058000	0.15608	0.309000	0.19332	0.402000	0.25451	0.533000	0.62120	CAA		0.438	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1		NM_152321	
FIGN	55137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	164468066	164468066	+	Silent	SNP	C	C	T	rs371120062		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:164468066C>T	ENST00000333129.3	-	3	590	c.276G>A	c.(274-276)tcG>tcA	p.S92S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	92					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.S92S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGGTGTGTCCGAATAGTTGC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											182.0	167.0	172.0					2																	164468066		1904	4117	6021	SO:0001819	synonymous_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.276G>A	2.37:g.164468066C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	CCDS2221.2																																																																																				0.468	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2		NM_018086	
HCN1	348980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	45262062	45262062	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:45262062G>C	ENST00000303230.4	-	8	2691	c.2634C>G	c.(2632-2634)gaC>gaG	p.D878E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	878					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D878E(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCGTCTGGGTCTGTGTTTA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											91.0	106.0	101.0					5																	45262062		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2634C>G	5.37:g.45262062G>C	ENSP00000307342:p.Asp878Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114047	0.06881	.	.	ENSG00000164588	ENST00000303230	D	0.97553	-4.43	5.01	4.07	0.47477	.	0.169582	0.39985	N	0.001203	D	0.89068	0.6610	N	0.04880	-0.145	0.32511	N	0.537526	B	0.06786	0.001	B	0.04013	0.001	T	0.83041	-0.0157	10	0.06365	T	0.9	.	10.4753	0.44661	0.0:0.2118:0.6641:0.1241	.	878	O60741	HCN1_HUMAN	E	878	ENSP00000307342:D878E	ENSP00000307342:D878E	D	-	3	2	HCN1	45297819	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.424000	0.21330	2.487000	0.83934	0.651000	0.88453	GAC		0.493	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072	
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79652641	79652641	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:79652641C>T	ENST00000329138.4	+	2	179	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000573392.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	15	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A15V(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCAGACAAGGCGACCAGCCAG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											80.0	73.0	75.0					17																	79652641		2201	4300	6501	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.44C>T	17.37:g.79652641C>T	ENSP00000331201:p.Ala15Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630852	0.96682	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.45668	0.89	5.48	5.48	0.80851	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.097268	0.64402	D	0.000001	T	0.70272	0.3205	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75889	-0.3158	10	0.87932	D	0	-31.8148	18.3475	0.90327	0.0:1.0:0.0:0.0	.	15	O14964	HGS_HUMAN	V	15	ENSP00000331201:A15V	ENSP00000331201:A15V	A	+	2	0	HGS	77263046	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	7.025000	0.76449	2.573000	0.86826	0.655000	0.94253	GCG		0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1		NM_004712	
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1616280	1616280	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:1616280G>A	ENST00000426508.2	-	16	2146	c.1783C>T	c.(1783-1785)Cct>Tct	p.P595S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	595					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.P595S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTGGAATCAGGGCTGTTGTCA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											111.0	104.0	106.0					16																	1616280		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1783C>T	16.37:g.1616280G>A	ENSP00000406012:p.Pro595Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337812	0.41398	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.67345	-0.26	5.29	5.29	0.74685	.	0.125171	0.53938	D	0.000041	T	0.77644	0.4161	M	0.77103	2.36	0.34077	D	0.659123	P;D	0.55385	0.916;0.971	P;P	0.56700	0.448;0.804	D	0.84160	0.0428	10	0.41790	T	0.15	.	14.5395	0.67982	0.0:0.0:0.8529:0.1471	.	595;320	Q96RY7;B4DR58	IF140_HUMAN;.	S	595	ENSP00000406012:P595S	ENSP00000380562:P595S	P	-	1	0	IFT140	1556281	1.000000	0.71417	0.498000	0.27564	0.592000	0.36648	4.740000	0.62087	2.477000	0.83638	0.591000	0.81541	CCT		0.507	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714	
ILDR2	387597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166944470	166944470	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:166944470G>A	ENST00000271417.3	-	1	91	c.36C>T	c.(34-36)ttC>ttT	p.F12F	ILDR2_ENST00000529071.1_Silent_p.F12F|ILDR2_ENST00000529387.1_Silent_p.F12F|ILDR2_ENST00000528703.1_Silent_p.F12F|ILDR2_ENST00000469934.2_Silent_p.F12F|ILDR2_ENST00000525740.1_Silent_p.F12F|ILDR2_ENST00000526687.1_Silent_p.F12F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	12					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F12F(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTGTTAGCCAGAAGAGAGAAA	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	113.0	116.0					1																	166944470		2203	4300	6503	SO:0001819	synonymous_variant	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.36C>T	1.37:g.166944470G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000271417.3	37	CCDS1256.1																																																																																				0.498	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351	
JUNB	3726	broad.mit.edu;hgsc.bcm.edu	37	19	12903494	12903494	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:12903494C>T	ENST00000302754.4	+	1	1185	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	303	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L303L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGAAGACGCTCAAGGCCGAGA	0.672																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	21.0	20.0					19																	12903494		2193	4293	6486	SO:0001819	synonymous_variant	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.909C>T	19.37:g.12903494C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96GH3	Silent	SNP	ENST00000302754.4	37	CCDS12280.1																																																																																				0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1		NM_002229	
KCNA4	3739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30033589	30033589	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:30033589C>A	ENST00000328224.6	-	2	1870	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	213					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.D213Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGCAAAGGGTCAAAGTACTGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											69.0	65.0	66.0					11																	30033589		1873	4106	5979	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.637G>T	11.37:g.30033589C>A	ENSP00000328511:p.Asp213Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906444	0.72868	.	.	ENSG00000182255	ENST00000328224	T	0.78481	-1.18	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052911	0.64402	D	0.000001	D	0.93504	0.7927	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96614	0.9454	10	0.87932	D	0	.	17.8942	0.88881	0.0:1.0:0.0:0.0	.	213	P22459	KCNA4_HUMAN	Y	213	ENSP00000328511:D213Y	ENSP00000328511:D213Y	D	-	1	0	KCNA4	29990165	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.787000	0.85759	2.227000	0.72691	0.561000	0.74099	GAC		0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2		NM_002233	
KCTD2	23510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73058235	73058235	+	Silent	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:73058235C>G	ENST00000322444.6	+	5	663	c.657C>G	c.(655-657)tcC>tcG	p.S219S	KCTD2_ENST00000581589.1_Silent_p.S20S	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	219					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)	p.S219S(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					TCGGATCTTCCTATAACTACG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											148.0	131.0	137.0					17																	73058235		2203	4300	6503	SO:0001819	synonymous_variant	23510			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.657C>G	17.37:g.73058235C>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000322444.6	37	CCDS32728.1																																																																																				0.428	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55956163	55956163	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:55956163C>T	ENST00000263923.4	-	23	3447	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1051	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1051Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATATCCCGGGCCAAGCC	0.408			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	kidney(1)											80.0	82.0	81.0					4																	55956163		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3152G>A	4.37:g.55956163C>T	ENSP00000263923:p.Arg1051Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710324	0.96821	.	.	ENSG00000128052	ENST00000263923	D	0.84873	-1.91	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92118	0.5701	10	0.87932	D	0	.	20.0835	0.97793	0.0:1.0:0.0:0.0	.	1051	P35968	VGFR2_HUMAN	Q	1051	ENSP00000263923:R1051Q	ENSP00000263923:R1051Q	R	-	2	0	KDR	55650920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.822000	0.97130	0.563000	0.77884	CGG		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587322	200587322	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:200587322G>C	ENST00000367350.4	-	2	968	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	177	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S177C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGGTACAGAAGAGGCAACAAA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											104.0	107.0	106.0					1																	200587322		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.530C>G	1.37:g.200587322G>C	ENSP00000356319:p.Ser177Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345766	0.61073	.	.	ENSG00000118193	ENST00000367350	T	0.80393	-1.37	5.59	4.66	0.58398	.	0.100048	0.44902	N	0.000403	T	0.73753	0.3627	L	0.32530	0.975	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.66752	-0.5844	10	0.66056	D	0.02	.	16.3812	0.83461	0.0:0.1319:0.8681:0.0	.	177	Q15058	KIF14_HUMAN	C	177	ENSP00000356319:S177C	ENSP00000356319:S177C	S	-	2	0	KIF14	198853945	0.606000	0.26949	0.003000	0.11579	0.046000	0.14306	4.385000	0.59613	1.317000	0.45149	0.591000	0.81541	TCT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875	
LINS	55180	hgsc.bcm.edu;ucsc.edu	37	15	101112168	101112168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:101112168delA	ENST00000314742.8	-	6	1547	c.1325delT	c.(1324-1326)ttcfs	p.F442fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	442										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGTTCTATGAAAACCCGAGA	0.443																																																	0													97.0	94.0	95.0					15																	101112168		2203	4300	6503	SO:0001589	frameshift_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1325delT	15.37:g.101112168delA	ENSP00000318423:p.Phe442fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96FW2|Q9NVQ3	Frame_Shift_Del	DEL	ENST00000314742.8	37	CCDS10385.1																																																																																				0.443	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148	
LTB4R	1241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24785139	24785139	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr14:24785139C>T	ENST00000396789.4	+	2	2007	c.282C>T	c.(280-282)caC>caT	p.H94H	LTB4R_ENST00000345363.3_Silent_p.H94H|LTB4R_ENST00000396782.2_Silent_p.H94H	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	94					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)	p.H94H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCCTGTGTCACTATGTCTGCG	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	96.0	99.0					14																	24785139		2203	4300	6503	SO:0001819	synonymous_variant	1241			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.282C>T	14.37:g.24785139C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	CCDS9626.1																																																																																				0.607	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			
METTL16	79066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2323880	2323880	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:2323880T>G	ENST00000263092.6	-	10	1200	c.1073A>C	c.(1072-1074)aAa>aCa	p.K358T	METTL16_ENST00000538844.1_Missense_Mutation_p.K140T|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	358							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.K358T(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGGAACTCGTTTATGCTGGAC	0.393																																																	2	Substitution - Missense(2)	kidney(2)											57.0	57.0	57.0					17																	2323880		1837	4087	5924	SO:0001583	missense	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1073A>C	17.37:g.2323880T>G	ENSP00000263092:p.Lys358Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253367	0.59212	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.51325	0.8;0.71	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.70275	2.135	0.80722	D	1	P	0.39044	0.656	B	0.39339	0.297	T	0.53865	-0.8378	10	0.46703	T	0.11	.	13.8075	0.63243	0.0:0.0:0.0:1.0	.	358	Q86W50	MET16_HUMAN	T	358;38;140	ENSP00000263092:K358T;ENSP00000443633:K140T	ENSP00000263092:K358T	K	-	2	0	METTL16	2270630	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.675000	0.84002	2.139000	0.66308	0.533000	0.62120	AAA		0.393	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2		NM_024086	
MKL2	57496	broad.mit.edu;ucsc.edu	37	16	14355166	14355166	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:14355166C>G	ENST00000341243.5	+	15	3132	c.3132C>G	c.(3130-3132)aaC>aaG	p.N1044K	MKL2_ENST00000574045.1_Missense_Mutation_p.N1005K|MKL2_ENST00000318282.5_Missense_Mutation_p.N1005K|MKL2_ENST00000571589.1_Missense_Mutation_p.N1055K			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1044					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.N1005K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGACTCAAACTTGGACAACA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											116.0	91.0	100.0					16																	14355166		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3132C>G	16.37:g.14355166C>G	ENSP00000345841:p.Asn1044Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.993428	0.74703	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	5.72	0.89469	.	0.284520	0.44902	D	0.000416	T	0.70072	0.3182	L	0.60455	1.87	0.46586	D	0.999116	B;D	0.71674	0.201;0.998	B;D	0.80764	0.036;0.994	T	0.67488	-0.5658	9	0.36615	T	0.2	-11.6701	12.1299	0.53936	0.0:0.9133:0.0:0.0867	.	1055;1005	B4DGT8;Q9ULH7-4	.;.	K	1005;1044	.	ENSP00000339086:N1005K	N	+	3	2	MKL2	14262667	1.000000	0.71417	0.846000	0.33378	0.996000	0.88848	5.513000	0.67037	2.698000	0.92095	0.591000	0.81541	AAC		0.537	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49436587	49436587	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:49436587G>C	ENST00000301067.7	-	26	5718	c.5719C>G	c.(5719-5721)Ctg>Gtg	p.L1907V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1907					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L1637V(1)|p.L1907V(1)									CCACAACCCAGATGCTGTTCT	0.537																																																	2	Substitution - Missense(2)	kidney(2)											107.0	105.0	105.0					12																	49436587		2042	4197	6239	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5719C>G	12.37:g.49436587G>C	ENSP00000301067:p.Leu1907Val	Somatic		WXS	Illumina HiSeq	Phase_I	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516071	0.12944	.	.	ENSG00000167548	ENST00000301067	T	0.79845	-1.31	5.51	3.46	0.39613	.	0.000000	0.29565	N	0.011791	T	0.54532	0.1864	N	0.08118	0	0.09310	N	0.999998	P	0.40083	0.702	B	0.26517	0.07	T	0.55328	-0.8158	10	0.87932	D	0	.	6.9707	0.24646	0.1716:0.0:0.6757:0.1527	.	1907	O14686	MLL2_HUMAN	V	1907	ENSP00000301067:L1907V	ENSP00000301067:L1907V	L	-	1	2	MLL2	47722854	0.998000	0.40836	0.876000	0.34364	0.827000	0.46813	2.548000	0.45794	1.293000	0.44690	0.561000	0.74099	CTG		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MSH3	4437	hgsc.bcm.edu	37	5	80057496	80057496	+	Splice_Site	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:80057496A>C	ENST00000265081.6	+	13	1975	c.1895A>C	c.(1894-1896)aAa>aCa	p.K632T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	632					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TATCACAAAAAAGTAAGTGTG	0.333								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													67.0	66.0	66.0					5																	80057496		2203	4300	6503	SO:0001630	splice_region_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1896+1A>C	5.37:g.80057496A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518840	0.64634	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90563	-2.69	5.41	4.25	0.50352	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	L	0.45581	1.43	0.37772	D	0.926702	D	0.89917	1.0	D	0.79108	0.992	D	0.91926	0.5551	9	.	.	.	-20.441	11.1864	0.48660	0.927:0.0:0.073:0.0	.	632	P20585	MSH3_HUMAN	T	632;623	ENSP00000265081:K632T	.	K	+	2	0	MSH3	80093252	1.000000	0.71417	0.992000	0.48379	0.692000	0.40212	5.957000	0.70323	0.992000	0.38840	0.459000	0.35465	AAA		0.333	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439	Missense_Mutation
MUC4	4585	hgsc.bcm.edu	37	3	195506550	195506597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	-	rs532272297|rs370049807|rs71291866|rs200317787|rs199907090|rs201177106|rs570854088|rs189628384|rs540229983|rs78035451|rs368695884|rs371889626|rs201481290|rs112574652|rs199621200|rs572850344|rs200685331|rs566845926|rs200845871|rs530312336|rs377184618|rs201891747|rs368854101|rs564784853	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr3:195506550_195506597delGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	12313_12360	c.11854_11901delCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACC	c.(11854-11901)cctcttcctgtcaccgacacttcctcagtatccacaggtcacgccaccdel	p.PLPVTDTSSVSTGHAT3952del	MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDTSSVSTGHAT3952del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3952S(8)|p.A3966T(2)|p.D3957N(2)|p.P3954L(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCA	0.601																																																	14	Substitution - Missense(14)	stomach(5)|kidney(5)|endometrium(2)|skin(2)							,,	129,2745		33,63,1341					,,		0.0			11	382,5000		84,214,2393	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	117,277,3734	A1A1,A1R,RR		7.0977,4.4885,6.1894	,,	,,		511,7745				SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11854_11901delCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACC	3.37:g.195506550_195506597delGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro3952_Thr3967del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.601	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8595162	8595162	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:8595162C>T	ENST00000338257.8	-	21	2513	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	749	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R749Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGCTCGGGCCGCTCCTCCAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											134.0	146.0	142.0					19																	8595162		2098	4200	6298	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2246G>A	19.37:g.8595162C>T	ENSP00000344871:p.Arg749Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671537	0.47781	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.34275	1.37	5.45	4.42	0.53409	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.45228	1.405	0.53005	D	0.999969	B	0.32829	0.386	B	0.25884	0.064	T	0.04165	-1.0972	10	0.07482	T	0.82	.	13.3514	0.60603	0.0:0.9239:0.0:0.0761	.	749	O00160	MYO1F_HUMAN	Q	794;749	ENSP00000344871:R749Q	ENSP00000304899:R794Q	R	-	2	0	MYO1F	8501162	0.936000	0.31750	1.000000	0.80357	0.956000	0.61745	2.662000	0.46766	1.317000	0.45149	0.456000	0.33151	CGG		0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			
N4BP1	9683	hgsc.bcm.edu;ucsc.edu	37	16	48595382	48595382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:48595382delA	ENST00000262384.3	-	2	1408	c.1172delT	c.(1171-1173)ttcfs	p.F391fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	391					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCTTCTTGGAATCTTTTATT	0.358																																																	0													46.0	45.0	45.0					16																	48595382		1817	4072	5889	SO:0001589	frameshift_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1172delT	16.37:g.48595382delA	ENSP00000262384:p.Phe391fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD49|Q2YDX1	Frame_Shift_Del	DEL	ENST00000262384.3	37	CCDS45479.1																																																																																				0.358	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1		NM_014664	
NEUROD1	4760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182542705	182542705	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:182542705T>C	ENST00000295108.3	-	2	1340	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	295					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.K295E(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCATAATTTTTCTCAAACTCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											85.0	85.0	85.0					2																	182542705		2203	4300	6503	SO:0001583	missense	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.883A>G	2.37:g.182542705T>C	ENSP00000295108:p.Lys295Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721232	0.68959	.	.	ENSG00000162992	ENST00000295108	D	0.97089	-4.24	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.76838	2.35	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.99201	1.0873	10	0.87932	D	0	2.0933	16.2108	0.82158	0.0:0.0:0.0:1.0	.	295	Q13562	NDF1_HUMAN	E	295	ENSP00000295108:K295E	ENSP00000295108:K295E	K	-	1	0	NEUROD1	182250950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	AAA		0.557	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2		NM_002500	
NPHS1	4868	hgsc.bcm.edu	37	19	36330419	36330420	+	Frame_Shift_Ins	INS	-	-	G	rs368639377|rs369410355		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:36330419_36330420insG	ENST00000378910.5	-	21	2904_2905	c.2905_2906insC	c.(2905-2907)ctgfs	p.L969fs	NPHS1_ENST00000353632.6_Frame_Shift_Ins_p.L969fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	969	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTGTGGCAGGCCCCCATCA	0.594																																																	0																																										SO:0001589	frameshift_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2906dupC	19.37:g.36330421_36330421dupG	ENSP00000368190:p.Leu969fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDH2|C3RX61	Frame_Shift_Ins	INS	ENST00000378910.5	37	CCDS32996.1																																																																																				0.594	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			
NUFIP2	57532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27613674	27613674	+	Silent	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:27613674G>T	ENST00000225388.4	-	2	1396	c.1338C>A	c.(1336-1338)atC>atA	p.I446I	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	446						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I446I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCCCAGAAGAGATGGGTGTTA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	82.0	82.0					17																	27613674		2203	4300	6503	SO:0001819	synonymous_variant	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1338C>A	17.37:g.27613674G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	CCDS32600.1																																																																																				0.423	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		NM_020772	
NUP214	8021	hgsc.bcm.edu;ucsc.edu	37	9	134067639	134067640	+	Frame_Shift_Del	DEL	TC	TC	-	rs199693388		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:134067639_134067640delTC	ENST00000359428.5	+	27	3763_3764	c.3619_3620delTC	c.(3619-3621)tctfs	p.S1207fs	NUP214_ENST00000483497.2_Frame_Shift_Del_p.S33fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.S1208fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Frame_Shift_Del_p.S1197fs|RP11-544A12.8_ENST00000502188.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	1207	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCATCTGCTTCTGGGCAGTTC	0.347			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0																																										SO:0001589	frameshift_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3619_3620delTC	9.37:g.134067639_134067640delTC	ENSP00000352400:p.Ser1207fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	ENST00000359428.5	37	CCDS6940.1																																																																																				0.347	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085	
NUP37	79023	hgsc.bcm.edu;ucsc.edu	37	12	102471203	102471203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:102471203delC	ENST00000552283.1	-	7	758	c.619delG	c.(619-621)gaafs	p.E207fs	NUP37_ENST00000543021.1_5'Flank|RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Frame_Shift_Del_p.E207fs			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	207					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GGCACTTGTTCTGATTCAAGA	0.383																																																	0													145.0	147.0	146.0					12																	102471203		2203	4300	6503	SO:0001589	frameshift_variant	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.619delG	12.37:g.102471203delC	ENSP00000448054:p.Glu207fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H644	Frame_Shift_Del	DEL	ENST00000552283.1	37	CCDS9089.1																																																																																				0.383	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1		NM_024057	
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu	37	9	107367525	107367525	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:107367525G>A	ENST00000542196.1	-	1	426	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N128N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTCAGAGGGTTGCAGATAG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	92.0	90.0					9																	107367525		2202	4297	6499	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.384C>T	9.37:g.107367525G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	CCDS35092.1																																																																																				0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2		NM_001004481	
OR5M10	390167	hgsc.bcm.edu	37	11	56344846	56344847	+	Missense_Mutation	DNP	TT	TT	AG	rs148438199	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:56344846_56344847TT>AG	ENST00000526812.2	-	1	416_417	c.351_352AA>CT	c.(349-354)tcAAtg>tcCTtg	p.M118L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCAATGCCATTGAAGCAAGGA	0.45																																																	0																																										SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.351_352delinsAG	11.37:g.56344846_56344847delinsAG	ENSP00000436004:p.Met118Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EIL9	Missense_Mutation|Silent	SNP	ENST00000526812.2	37	CCDS53630.1																																																																																				0.450	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741	
P2RX4	5025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121660766	121660766	+	Silent	SNP	G	G	A	rs140643624		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:121660766G>A	ENST00000337233.4	+	5	752	c.444G>A	c.(442-444)agG>agA	p.R148R	P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000359949.7_Silent_p.R164R|P2RX4_ENST00000543171.1_Silent_p.R47R	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	148				R -> W (in Ref. 8; AAB66834). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R148R(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACAGGCAGGTGCGTAGCTT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)						A		1,4405	825.2+/-416.5	0,1,2202	134.0	98.0	110.0		444	-5.1	0.0	12	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	P2RX4	NM_002560.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		148/389	121660766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.444G>A	12.37:g.121660766G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	A	5.243	0.230333	0.09969	2.27E-4	0.0	ENSG00000135124	ENST00000542067	.	.	.	5.17	-5.08	0.02929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3401	0.90302	0.3179:0.0:0.6821:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	P2RX4	120145149	0.000000	0.05858	0.015000	0.15790	0.094000	0.18550	-0.437000	0.06914	-1.666000	0.01475	-0.254000	0.11334	.		0.587	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1		NM_175567	
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57325755	57325755	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:57325755T>C	ENST00000326441.9	-	10	4418	c.4055A>G	c.(4054-4056)gAg>gGg	p.E1352G	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1226G|PEG3_ENST00000598410.1_Missense_Mutation_p.E1228G|PEG3_ENST00000423103.2_Missense_Mutation_p.E1352G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1352	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E1352G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGATGAAGCTCCTTATGTTT	0.448																																																	2	Substitution - Missense(2)	kidney(2)											56.0	55.0	55.0					19																	57325755		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4055A>G	19.37:g.57325755T>C	ENSP00000326581:p.Glu1352Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006708	0.35415	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.51817	0.69;0.69	4.26	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.479266	0.17691	N	0.165262	T	0.22627	0.0546	N	0.02802	-0.49	.	.	.	B;B;B	0.28820	0.224;0.002;0.002	B;B;B	0.28011	0.085;0.011;0.007	T	0.22661	-1.0210	9	0.56958	D	0.05	-17.6772	8.0218	0.30415	0.2212:0.0:0.0:0.7788	.	1228;1352;1287	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	1352	ENSP00000326581:E1352G;ENSP00000403051:E1352G	ENSP00000326581:E1352G	E	-	2	0	ZIM2	62017567	0.001000	0.12720	0.584000	0.28653	0.990000	0.78478	0.968000	0.29357	0.934000	0.37316	0.533000	0.62120	GAG		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
BACE2	25825	hgsc.bcm.edu	37	21	42551433	42551433	+	Intron	DEL	G	G	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr21:42551433delG	ENST00000330333.6	+	1	775				BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000430327.2_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACGGTGTCTGGGGTGAGTGA	0.607																																																	0													124.0	109.0	114.0					21																	42551433		2196	4275	6471	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10931G>-	21.37:g.42551433delG		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	DEL	ENST00000330333.6	37	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			
C10orf55	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75676303	75676303	+	5'UTR	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:75676303G>C	ENST00000409178.1	-	0	241				PLAU_ENST00000446342.1_Missense_Mutation_p.E409Q|PLAU_ENST00000372762.4_Missense_Mutation_p.E390Q|PLAU_ENST00000372764.3_Missense_Mutation_p.E426Q|C10orf55_ENST00000412307.2_5'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.E426Q(1)		endometrium(1)	1	Prostate(51;0.0112)					CACCAAGGAAGAGAATGGCCT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											47.0	39.0	42.0					10																	75676303		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.-100C>G	10.37:g.75676303G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102203	0.06967	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.87650	-2.28;-2.28;-2.28	4.9	2.01	0.26516	Peptidase cysteine/serine, trypsin-like (1);	0.524033	0.22054	N	0.065267	T	0.72028	0.3410	N	0.12663	0.25	0.19300	N	0.999978	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.60291	-0.7292	10	0.38643	T	0.18	.	6.702	0.23230	0.096:0.3842:0.5197:0.0	.	409;390;426;426	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	Q	409;426;390;390	ENSP00000388474:E409Q;ENSP00000361850:E426Q;ENSP00000361848:E390Q	ENSP00000361847:E390Q	E	+	1	0	PLAU	75346309	.	.	0.363000	0.25875	0.019000	0.09904	.	.	0.736000	0.32559	-0.226000	0.12346	GAG		0.562	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1		NM_001001791	
PLEKHJ1	55111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2234235	2234235	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:2234235G>T	ENST00000589097.1	-	5	1347	c.234C>A	c.(232-234)ttC>ttA	p.F78L	PLEKHJ1_ENST00000591099.2_Intron|PLEKHJ1_ENST00000587394.2_Missense_Mutation_p.F78L|PLEKHJ1_ENST00000586608.2_Intron|PLEKHJ1_ENST00000589791.1_5'UTR|MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.F78L|PLEKHJ1_ENST00000587962.2_Missense_Mutation_p.F78L|SF3A2_ENST00000221494.5_5'Flank			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	78	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.F78L(1)		endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCTCAATGAAGCCTGGGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											60.0	48.0	52.0					19																	2234235		2202	4300	6502	SO:0001583	missense	55111			AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"""Pleckstrin homology (PH) domain containing"""	18211	protein-coding gene	gene with protein product	"""guanine nucleotide releasing protein x"""					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.234C>A	19.37:g.2234235G>T	ENSP00000465391:p.Phe78Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUQ9|D6W604	Missense_Mutation	SNP	ENST00000589097.1	37	CCDS12083.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031120	0.35797	.	.	ENSG00000104886	ENST00000326631	T	0.77098	-1.07	4.05	3.0	0.34707	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.64404	1.975	0.54753	D	0.999988	B	0.33171	0.4	B	0.34873	0.191	T	0.64892	-0.6300	10	0.33940	T	0.23	-14.9065	7.4744	0.27368	0.2012:0.0:0.7988:0.0	.	78	Q9NW61	PKHJ1_HUMAN	L	78	ENSP00000318075:F78L	ENSP00000318075:F78L	F	-	3	2	PLEKHJ1	2185235	0.982000	0.34865	0.548000	0.28192	0.607000	0.37147	2.041000	0.41213	0.664000	0.31047	0.561000	0.74099	TTC		0.597	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1		NM_018049	
PRKD3	23683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37501595	37501595	+	Silent	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:37501595A>C	ENST00000379066.1	-	11	2382	c.1620T>G	c.(1618-1620)gtT>gtG	p.V540V	PRKD3_ENST00000234179.2_Silent_p.V540V			O94806	KPCD3_HUMAN	protein kinase D3	540					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.V540V(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAGAAGTGCAAACACTTGCTT	0.448																																					Melanoma(80;621 1355 8613 11814 51767)												2	Substitution - coding silent(2)	kidney(2)											130.0	120.0	124.0					2																	37501595		2203	4300	6503	SO:0001819	synonymous_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1620T>G	2.37:g.37501595A>C		Somatic		WXS	Illumina HiSeq	Phase_I	D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	CCDS1789.1																																																																																				0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813	
REN	5972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204128614	204128614	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:204128614T>A	ENST00000272190.8	-	5	630	c.602A>T	c.(601-603)cAg>cTg	p.Q201L	REN_ENST00000367195.2_Missense_Mutation_p.Q201L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	201					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.Q201L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCCAATGGCCTGTTCAATGAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											143.0	125.0	131.0					1																	204128614		2203	4300	6503	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.602A>T	1.37:g.204128614T>A	ENSP00000272190:p.Gln201Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.538424	0.00942	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.51574	0.7;0.7	5.22	4.08	0.47627	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.399972	0.28859	N	0.013913	T	0.27489	0.0675	N	0.11000	0.08	0.44309	D	0.997189	B	0.06786	0.001	B	0.09377	0.004	T	0.04400	-1.0954	10	0.44086	T	0.13	.	9.2954	0.37813	0.2877:0.0:0.0:0.7123	.	201	P00797	RENI_HUMAN	L	201;120;201	ENSP00000356163:Q201L;ENSP00000272190:Q201L	ENSP00000272190:Q201L	Q	-	2	0	REN	202395237	0.995000	0.38212	0.978000	0.43139	0.002000	0.02628	1.652000	0.37313	0.809000	0.34255	-0.714000	0.03626	CAG		0.537	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537	
RHBDF2	79651	broad.mit.edu;ucsc.edu	37	17	74468019	74468019	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:74468019A>T	ENST00000313080.4	-	19	2540	c.2267T>A	c.(2266-2268)gTg>gAg	p.V756E	RHBDF2_ENST00000389760.4_Missense_Mutation_p.V727E|RHBDF2_ENST00000591885.1_Missense_Mutation_p.V727E	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	756					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V756E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGGAAGAGCACGATGGCCGA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											102.0	71.0	82.0					17																	74468019		2198	4287	6485	SO:0001583	missense	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2267T>A	17.37:g.74468019A>T	ENSP00000322775:p.Val756Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810542	0.70797	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.16597	2.33;2.33	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.219126	0.37219	N	0.002195	T	0.40119	0.1104	M	0.75264	2.295	0.58432	D	0.999993	D;D	0.63046	0.992;0.958	D;P	0.65684	0.937;0.823	T	0.36841	-0.9731	10	0.72032	D	0.01	-13.1691	14.0152	0.64519	1.0:0.0:0.0:0.0	.	756;727	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	E	756;727	ENSP00000322775:V756E;ENSP00000374410:V727E	ENSP00000322775:V756E	V	-	2	0	RHBDF2	71979614	1.000000	0.71417	0.991000	0.47740	0.446000	0.32137	7.304000	0.78882	1.924000	0.55735	0.383000	0.25322	GTG		0.632	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1		NM_024599	
RPS19BP1	91582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39928457	39928457	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr22:39928457T>C	ENST00000334678.3	-	2	240	c.124A>G	c.(124-126)Att>Gtt	p.I42V		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	42						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)	p.I42V(1)		endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					TGGGCCTGAATTGCCTTCGTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											70.0	64.0	66.0					22																	39928457		2203	4300	6503	SO:0001583	missense	91582			BC037573	CCDS13997.1	22q13.1	2006-03-17			ENSG00000187051	ENSG00000187051			28749	protein-coding gene	gene with protein product		610225				16289379	Standard	NM_194326		Approved	MGC52010, FLJ21770	uc003ayb.3	Q86WX3	OTTHUMG00000151101	ENST00000334678.3:c.124A>G	22.37:g.39928457T>C	ENSP00000333948:p.Ile42Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0QY96|Q5JZA1	Missense_Mutation	SNP	ENST00000334678.3	37	CCDS13997.1	.	.	.	.	.	.	.	.	.	.	T	4.483	0.089540	0.08632	.	.	ENSG00000187051	ENST00000334678	T	0.40225	1.04	5.44	-2.42	0.06542	.	0.988254	0.08248	N	0.975025	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.15925	-1.0420	10	0.46703	T	0.11	-17.2928	1.8998	0.03265	0.1261:0.3063:0.1299:0.4377	.	42	Q86WX3	AROS_HUMAN	V	42	ENSP00000333948:I42V	ENSP00000333948:I42V	I	-	1	0	RPS19BP1	38258403	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.053000	0.11846	-0.562000	0.06086	0.459000	0.35465	ATT		0.642	RPS19BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321307.1		NM_194326	
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39034251	39034251	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:39034251C>A	ENST00000359596.3	+	86	11858	c.11858C>A	c.(11857-11859)gCc>gAc	p.A3953D	RYR1_ENST00000360985.3_Missense_Mutation_p.A3948D|RYR1_ENST00000355481.4_Missense_Mutation_p.A3948D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3953					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A3953D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCTCCAAAGCCATGTCGGTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											94.0	89.0	90.0					19																	39034251		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11858C>A	19.37:g.39034251C>A	ENSP00000352608:p.Ala3953Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055990	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95377	-3.69;-3.69;-3.69	4.3	4.3	0.51218	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000005	D	0.97284	0.9112	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98083	1.0405	10	0.87932	D	0	.	16.5433	0.84407	0.0:1.0:0.0:0.0	.	3948;3948;3953	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3953;3948;3948	ENSP00000352608:A3953D;ENSP00000347667:A3948D;ENSP00000354254:A3948D	ENSP00000347667:A3948D	A	+	2	0	RYR1	43726091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.348000	0.79366	2.240000	0.73641	0.486000	0.48141	GCC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
SAMHD1	25939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35547877	35547877	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr20:35547877T>C	ENST00000262878.4	-	7	941	c.742A>G	c.(742-744)Aat>Gat	p.N248D	SAMHD1_ENST00000373694.5_Missense_Mutation_p.N33D	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	248	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N248D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTAATTCCATTAGAATTAATA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											97.0	91.0	93.0					20																	35547877		2203	4300	6503	SO:0001583	missense	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.742A>G	20.37:g.35547877T>C	ENSP00000262878:p.Asn248Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825347	0.90955	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90385	-2.66;-2.63	5.82	5.82	0.92795	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.63208	1.945	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	D	0.94140	0.7396	10	0.62326	D	0.03	-36.2618	15.86	0.79014	0.0:0.0:0.0:1.0	.	248	Q9Y3Z3	SAMH1_HUMAN	D	248;33	ENSP00000262878:N248D;ENSP00000362798:N33D	ENSP00000262878:N248D	N	-	1	0	SAMHD1	34981291	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.614000	0.82996	2.227000	0.72691	0.455000	0.32223	AAT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474	
SLC25A23	79085	broad.mit.edu;hgsc.bcm.edu	37	19	6444201	6444201	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:6444201A>T	ENST00000301454.4	-	9	1289	c.1183T>A	c.(1183-1185)Tac>Aac	p.Y395N	SLC25A23_ENST00000334510.5_Missense_Mutation_p.Y395N|SLC25A23_ENST00000414491.2_Missense_Mutation_p.Y156N|SLC25A23_ENST00000601760.1_5'UTR	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	395					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.Y395N(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GCCAGCGGGTAACTGGCTATC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											29.0	27.0	28.0					19																	6444201		2203	4300	6503	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1183T>A	19.37:g.6444201A>T	ENSP00000301454:p.Tyr395Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807314	0.90623	.	.	ENSG00000125648	ENST00000264088;ENST00000422102;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93106	0.6512	10	0.87932	D	0	-19.6809	13.7553	0.62933	1.0:0.0:0.0:0.0	.	156;395	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	N	442;96;395;156;395	ENSP00000264088:Y442N;ENSP00000301454:Y395N;ENSP00000408814:Y156N;ENSP00000334537:Y395N	ENSP00000264088:Y442N	Y	-	1	0	SLC25A23	6395201	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.848000	0.92172	1.900000	0.55004	0.379000	0.24179	TAC		0.667	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1		NM_024103	
SLC9C2	284525	hgsc.bcm.edu	37	1	173517587	173517587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:173517587delT	ENST00000367714.3	-	12	1824	c.1402delA	c.(1402-1404)attfs	p.I468fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.I366fs|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	468					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTTGTCAAAATTTTTTCTGTT	0.363																																																	0													128.0	128.0	128.0					1																	173517587		2203	4300	6503	SO:0001589	frameshift_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1402delA	1.37:g.173517587delT	ENSP00000356687:p.Ile468fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	CCDS1308.1																																																																																				0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527	
NPR2	4882	hgsc.bcm.edu	37	9	35811508	35811509	+	IGR	DNP	AG	AG	GA	rs28409023		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:35811508_35811509AG>GA	ENST00000342694.2	+	0	3686				TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.S179P|SPAG8_ENST00000484764.1_Missense_Mutation_p.S177P|SPAG8_ENST00000479751.1_5'Flank|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.S179P|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G178>?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ccaggaccagagccaggaccag	0.644																																																	2	Complex(2)	large_intestine(2)																																								SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	Exception_encountered	9.37:g.35811508_35811509delinsGA		Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation|Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																				0.644	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			
SPCS1	28972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52741704	52741704	+	Splice_Site	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr3:52741704T>G	ENST00000602728.1	+	4	354	c.185T>G	c.(184-186)cTg>cGg	p.L62R	GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000423431.1_Splice_Site_p.L40R|GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000233025.7_Splice_Site_p.L129R			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	62					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.L129R(1)|p.L62R(1)		kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CTGGCCCAGCTGACACTTCCT	0.423																																																	2	Substitution - Missense(2)	kidney(2)											90.0	93.0	92.0					3																	52741704		2203	4300	6503	SO:0001630	splice_region_variant	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.184-1T>G	3.37:g.52741704T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.406689	0.83230	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	D;D	0.83673	-1.75;-1.75	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94070	0.7334	10	0.87932	D	0	-8.3632	15.7316	0.77810	0.0:0.0:0.0:1.0	.	129	Q9Y6A9	SPCS1_HUMAN	R	40;129	ENSP00000391610:L40R;ENSP00000233025:L129R	ENSP00000233025:L129R	L	+	2	0	SPCS1	52716744	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.169000	0.77578	2.109000	0.64355	0.482000	0.46254	CTG		0.423	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1		NM_014041	Missense_Mutation
SPEG	10290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220333895	220333895	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:220333895T>G	ENST00000312358.7	+	13	3641	c.3509T>G	c.(3508-3510)aTg>aGg	p.M1170R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1170					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M1170R(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGGAGAAGATGCCATCCATT	0.672																																																	1	Substitution - Missense(1)	kidney(1)											37.0	44.0	42.0					2																	220333895		2173	4275	6448	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3509T>G	2.37:g.220333895T>G	ENSP00000311684:p.Met1170Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978901	0.53827	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64803	-0.12	4.77	4.77	0.60923	.	0.000000	0.51477	D	0.000098	T	0.68072	0.2961	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.72221	-0.4356	10	0.66056	D	0.02	.	14.4658	0.67482	0.0:0.0:0.0:1.0	.	1170	Q15772	SPEG_HUMAN	R	1170	ENSP00000311684:M1170R	ENSP00000265327:M1170R	M	+	2	0	SPEG	220042139	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.829000	0.86735	2.015000	0.59207	0.533000	0.62120	ATG		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876	
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39881491	39881491	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:39881491C>A	ENST00000260356.5	+	12	2027	c.1862C>A	c.(1861-1863)cCc>cAc	p.P621H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	621					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P621H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTGCCCTGCCCCCCACGCTTC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											83.0	88.0	87.0					15																	39881491		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1862C>A	15.37:g.39881491C>A	ENSP00000260356:p.Pro621His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.022093|5.022093	0.93462|0.93462	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000260356|ENST00000397593	D|.	0.92446|.	-3.04|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Epidermal growth factor-like (1);EGF-like calcium-binding (1);|.	0.000000|0.000000	0.35772|0.35772	N|N	0.002998|0.002998	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88133|0.88133	0.2839|0.2839	10|7	0.87932|0.87932	D|D	0|0	-9.7384|-9.7384	19.6845|19.6845	0.95976|0.95976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	536;621|.	B4E3J7;P07996|.	.;TSP1_HUMAN|.	H|T	621|55	ENSP00000260356:P621H|.	ENSP00000260356:P621H|ENSP00000380721:P55T	P|P	+|+	2|1	0|0	THBS1|THBS1	37668783|37668783	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.698000|0.698000	0.40448|0.40448	7.818000|7.818000	0.86416|0.86416	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.577	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2		NM_003246	
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43577100	43577100	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:43577100C>T	ENST00000452443.2	-	7	920	c.916G>A	c.(916-918)Gcg>Acg	p.A306T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	306					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A306T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ACGTTGTGCGCGGAACGGAAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											199.0	163.0	175.0					15																	43577100		2202	4299	6501	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.916G>A	15.37:g.43577100C>T	ENSP00000389466:p.Ala306Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	35	5.568819	0.96540	.	.	ENSG00000159495	ENST00000452443	T	0.54866	0.55	5.63	5.63	0.86233	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.81341	2.54	0.51767	D	0.99993	D	0.89917	1.0	D	0.91635	0.999	T	0.77838	-0.2439	10	0.87932	D	0	-11.8089	17.1875	0.86870	0.0:1.0:0.0:0.0	.	306	Q96PF1	TGM7_HUMAN	T	306	ENSP00000389466:A306T	ENSP00000389466:A306T	A	-	1	0	TGM7	41364392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.778000	0.62368	2.665000	0.90641	0.655000	0.94253	GCG		0.428	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1		NM_052955	
ALYREF	10189	broad.mit.edu;hgsc.bcm.edu	37	17	79846407	79846407	+	Missense_Mutation	SNP	C	C	A	rs150564817		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:79846407C>A	ENST00000331204.4	-	4	596	c.570G>T	c.(568-570)agG>agT	p.R190S	ALYREF_ENST00000512673.1_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.R197S	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	190	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R190S(1)									TCTGTGCAGGCCTCCGCTGTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											39.0	40.0	40.0					17																	79846407		2203	4300	6503	SO:0001583	missense	0			AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.570G>T	17.37:g.79846407C>A	ENSP00000331817:p.Arg190Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O43672	Missense_Mutation	SNP	ENST00000331204.4	37		.	.	.	.	.	.	.	.	.	.	T	19.27	3.794575	0.70452	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.74421	-0.84;-0.84	5.96	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.74467	2.265	0.41790	D	0.989863	P	0.38677	0.642	P	0.48334	0.574	T	0.67692	-0.5605	10	0.08599	T	0.76	.	9.566	0.39398	0.0:0.2589:0.0:0.7411	.	197	E9PB61	.	S	190;197	ENSP00000331817:R190S;ENSP00000421592:R197S	ENSP00000331817:R190S	R	-	3	2	THOC4	77439703	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	0.756000	0.26419	-0.041000	0.13558	-0.254000	0.11334	AGG		0.587	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005782	
TKTL2	84076	broad.mit.edu;ucsc.edu	37	4	164393649	164393649	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:164393649T>G	ENST00000280605.3	-	1	1398	c.1238A>C	c.(1237-1239)aAt>aCt	p.N413T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	413						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.N413T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGTTGATATTGGCTTGAGA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											40.0	43.0	42.0					4																	164393649		2203	4300	6503	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1238A>C	4.37:g.164393649T>G	ENSP00000280605:p.Asn413Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832509	0.50845	.	.	ENSG00000151005	ENST00000280605	T	0.46819	0.86	4.2	0.466	0.16716	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.90309	3.105	0.58432	D	0.999993	D	0.64830	0.994	P	0.61397	0.888	T	0.65768	-0.6088	10	0.72032	D	0.01	-13.9528	7.4138	0.27032	0.0:0.2791:0.0:0.7209	.	413	Q9H0I9	TKTL2_HUMAN	T	413	ENSP00000280605:N413T	ENSP00000280605:N413T	N	-	2	0	TKTL2	164613099	1.000000	0.71417	0.369000	0.25952	0.973000	0.67179	3.858000	0.55979	0.098000	0.17522	-0.250000	0.11733	AAT		0.493	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1		NM_032136	
TNKS2	80351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93604754	93604754	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:93604754T>C	ENST00000371627.4	+	17	2517	c.2138T>C	c.(2137-2139)cTt>cCt	p.L713P		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	713					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L713P(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAGGAGGACTTATTCCTTTA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											97.0	93.0	94.0					10																	93604754		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2138T>C	10.37:g.93604754T>C	ENSP00000360689:p.Leu713Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438751	0.83885	.	.	ENSG00000107854	ENST00000371627	T	0.66638	-0.22	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.000000	0.46442	D	0.000293	T	0.77525	0.4143	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79480	-0.1786	10	0.62326	D	0.03	.	15.1084	0.72336	0.0:0.0:0.0:1.0	.	713	Q9H2K2	TNKS2_HUMAN	P	713	ENSP00000360689:L713P	ENSP00000360689:L713P	L	+	2	0	TNKS2	93594734	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.997000	0.88414	2.022000	0.59522	0.477000	0.44152	CTT		0.343	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1		NM_025235	
TPST1	8460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	65705728	65705728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr7:65705728C>T	ENST00000304842.5	+	2	741	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	106					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.R106R(1)|p.R106*(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTCATTCCCCGAATCCTGGC	0.537																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											94.0	92.0	93.0					7																	65705728		2203	4300	6503	SO:0001587	stop_gained	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.316C>T	7.37:g.65705728C>T	ENSP00000302413:p.Arg106*	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	C	38	6.967402	0.97971	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5558	15.4178	0.74983	0.1394:0.8606:0.0:0.0	.	.	.	.	X	106	.	ENSP00000302413:R106X	R	+	1	2	TPST1	65343163	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	2.723000	0.93209	0.585000	0.79938	CGA		0.537	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2		NM_003596	
TRIO	7204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14485224	14485224	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:14485224A>T	ENST00000344204.4	+	47	6728	c.6704A>T	c.(6703-6705)aAa>aTa	p.K2235I	TRIO_ENST00000537187.1_Missense_Mutation_p.K2235I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2235	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K2235I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCCTGTAAATTTGCTCTG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											138.0	126.0	130.0					5																	14485224		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6704A>T	5.37:g.14485224A>T	ENSP00000339299:p.Lys2235Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366617	0.82463	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.34472	1.36;1.36	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.87547	2.89	0.52501	D	0.999956	P;D	0.61697	0.929;0.99	D;P	0.63703	0.917;0.758	T	0.71537	-0.4563	10	0.87932	D	0	.	15.1658	0.72825	1.0:0.0:0.0:0.0	.	2235;2235	O75962-5;O75962	.;TRIO_HUMAN	I	2235;2235;1922	ENSP00000339299:K2235I;ENSP00000446348:K2235I	ENSP00000339299:K2235I	K	+	2	0	TRIO	14538224	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.576000	0.82467	1.978000	0.57642	0.528000	0.53228	AAA		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118	
TULP4	56995	broad.mit.edu;ucsc.edu	37	6	158924983	158924983	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:158924983T>A	ENST00000367097.3	+	13	5645	c.4288T>A	c.(4288-4290)Tgg>Agg	p.W1430R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1430					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1430R(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGAAAGGGCTGGAAAAGCAA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											37.0	43.0	41.0					6																	158924983		2203	4298	6501	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4288T>A	6.37:g.158924983T>A	ENSP00000356064:p.Trp1430Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297169	0.60086	.	.	ENSG00000130338	ENST00000367097	T	0.61859	0.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65479	-0.6158	10	0.62326	D	0.03	-17.2505	15.9319	0.79668	0.0:0.0:0.0:1.0	.	1430	Q9NRJ4	TULP4_HUMAN	R	1430	ENSP00000356064:W1430R	ENSP00000356064:W1430R	W	+	1	0	TULP4	158844971	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.487000	0.81328	2.225000	0.72522	0.459000	0.35465	TGG		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215955490	215955490	+	Missense_Mutation	SNP	C	C	T	rs375978706		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:215955490C>T	ENST00000307340.3	-	54	11020	c.10634G>A	c.(10633-10635)cGg>cAg	p.R3545Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R3545Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3545	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R3545Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATGTTCCCCGAAAACGTTC	0.383										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4406		0,0,2203	88.0	85.0	86.0		10634	0.0	0.0	1		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3545/5203	215955490	1,13005	2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10634G>A	1.37:g.215955490C>T	ENSP00000305941:p.Arg3545Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137211	0.37728	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.63	0.0242	0.14140	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.381511	0.18301	N	0.145419	T	0.31888	0.0811	L	0.31664	0.95	0.26214	N	0.979259	B	0.23316	0.083	B	0.12156	0.007	T	0.11446	-1.0587	10	0.26408	T	0.33	.	5.2174	0.15350	0.0:0.4556:0.2519:0.2925	.	3545	O75445	USH2A_HUMAN	Q	3545	ENSP00000305941:R3545Q;ENSP00000355910:R3545Q	ENSP00000305941:R3545Q	R	-	2	0	USH2A	214022113	0.905000	0.30787	0.001000	0.08648	0.707000	0.40811	0.949000	0.29109	-0.164000	0.10927	0.557000	0.71058	CGG		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234468567	234468567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:234468567G>A	ENST00000427112.2	-	3	306	c.271C>T	c.(271-273)Cga>Tga	p.R91*	USP40_ENST00000251722.6_Nonsense_Mutation_p.R91*|USP40_ENST00000450966.1_Nonsense_Mutation_p.R103*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	91	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R103*(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GGGATGATTCGAACCTGAATG	0.413																																																	2	Substitution - Nonsense(2)	kidney(2)											72.0	66.0	68.0					2																	234468567		1899	4116	6015	SO:0001587	stop_gained	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.271C>T	2.37:g.234468567G>A	ENSP00000387898:p.Arg91*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796566	0.96952	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	.	.	.	5.74	4.84	0.62591	.	0.121238	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2672	0.66126	0.0:0.0:0.729:0.271	.	.	.	.	X	103;91;91;91	.	ENSP00000251722:R91X	R	-	1	2	USP40	234133306	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.874000	0.48483	1.374000	0.46228	0.650000	0.86243	CGA		0.413	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294	
VHL	7428	hgsc.bcm.edu	37	3	10183800	10183800	+	Missense_Mutation	SNP	A	A	T	rs143985153		TCGA-CZ-5457-01A-01W-1528-10	TCGA-CZ-5457-11A-01W-1528-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		Illumina GAIIx	c1ee1be5-2a5d-44ac-baa2-ccb30e862ae0	699d8dc1-8145-4fa5-b480-c970b5ed6138	g.chr3:10183800A>T	ENST00000256474.2	+	1	1109	c.269A>T	c.(268-270)aAc>aTc	p.N90I	VHL_ENST00000345392.2_Missense_Mutation_p.N90I|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	90					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N90I(4)|p.N90fs*69(2)|p.R60fs*35(1)|p.N90fs*67(1)|p.N90del(1)|p.V84_E94>E(1)|p.L89fs*67(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTATGGCTCAACTTCGACGGC	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	12	Deletion - Frameshift(6)|Substitution - Missense(4)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CI994273|CM004284	VHL	I|M	rs143985153						13.0	15.0	14.0					3																	10183800		2082	4138	6220	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.269A>T	3.37:g.10183800A>T	ENSP00000256474:p.Asn90Ile	Somatic		WXS	PacBio RS	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.015731	0.93404	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99818	-6.92;-6.92	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.100679	0.64402	D	0.000002	D	0.99722	0.9892	M	0.73217	2.22	0.41511	D	0.988349	D;D	0.89917	0.994;1.0	P;D	0.97110	0.906;1.0	D	0.97131	0.9818	10	0.87932	D	0	-7.7147	12.8448	0.57823	1.0:0.0:0.0:0.0	.	90;90	P40337-2;P40337	.;VHL_HUMAN	I	90	ENSP00000256474:N90I;ENSP00000344757:N90I	ENSP00000256474:N90I	N	+	2	0	VHL	10158800	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.660000	0.68018	1.920000	0.55613	0.450000	0.29827	AAC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VIPAS39	63894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77916095	77916095	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr14:77916095C>T	ENST00000553888.1	-	5	854	c.344G>A	c.(343-345)gGt>gAt	p.G115D	VIPAS39_ENST00000327028.4_Intron|VIPAS39_ENST00000448935.2_Splice_Site_p.S66N|VIPAS39_ENST00000557658.1_Splice_Site_p.G115D|VIPAS39_ENST00000556412.1_Splice_Site_p.G141D|VIPAS39_ENST00000343765.2_Splice_Site_p.G115D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	115					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.G115D(1)									TCTAGTTCTACCTAAAGGTAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											109.0	102.0	104.0					14																	77916095		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.344-1G>A	14.37:g.77916095C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.239825|4.239825	0.79912|0.79912	.|.	.|.	ENSG00000151445|ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000557658;ENST00000556412|ENST00000448935	T;T;T;T|T	0.40225|0.50548	1.04;1.04;1.04;1.04|0.74	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.046434|.	0.85682|.	D|.	0.000000|.	T|T	0.63686|0.63686	0.2532|0.2532	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|D	0.76494|0.71674	0.999|0.998	D|D	0.71656|0.71870	0.974|0.975	T|T	0.65948|0.65948	-0.6044|-0.6044	10|9	0.08381|0.72032	T|D	0.77|0.01	.|.	17.0567|17.0567	0.86535|0.86535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|66	Q9H9C1|B4DPI6	VIPAR_HUMAN|.	D|N	115;115;115;141|66	ENSP00000339122:G115D;ENSP00000452181:G115D;ENSP00000452191:G115D;ENSP00000451857:G141D|ENSP00000404815:S66N	ENSP00000339122:G115D|ENSP00000404815:S66N	G|S	-|-	2|2	0|0	VIPAR|VIPAR	76985848|76985848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.719000|3.719000	0.54926|0.54926	2.461000|2.461000	0.83175|0.83175	0.563000|0.563000	0.77884|0.77884	GGT|AGT		0.428	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1		NM_022067	Missense_Mutation
WRAP73	49856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3564112	3564112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:3564112G>A	ENST00000270708.7	-	2	155	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	WRAP73_ENST00000378322.3_Nonsense_Mutation_p.Q28*	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	28						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q28*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AACCGGTACTGGACACAGGAA	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											84.0	76.0	79.0					1																	3564112		2203	4300	6503	SO:0001587	stop_gained	0			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.82C>T	1.37:g.3564112G>A	ENSP00000270708:p.Gln28*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Nonsense_Mutation	SNP	ENST00000270708.7	37	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056703	0.93793	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-38.0353	17.5332	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000270708:Q28X	Q	-	1	0	WRAP73	3553972	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.681000	0.84073	2.410000	0.81850	0.655000	0.94253	CAG		0.537	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56924221	56924221	+	Silent	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:56924221A>C	ENST00000267807.7	-	22	2631	c.2415T>G	c.(2413-2415)gtT>gtG	p.V805V	ZNF280D_ENST00000559237.1_Silent_p.V792V|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	805					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.V805V(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CCTTATCTGAAACTGTTATGC	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	115.0	116.0					15																	56924221		2192	4292	6484	SO:0001819	synonymous_variant	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2415T>G	15.37:g.56924221A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	CCDS32245.1																																																																																				0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867	
EGFL7	51162	broad.mit.edu	37	9	139563044	139563044	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:139563044C>G	ENST00000371699.1	+	4	1027	c.116C>G	c.(115-117)cCt>cGt	p.P39R	EGFL7_ENST00000308874.7_Missense_Mutation_p.P39R|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Missense_Mutation_p.P39R|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000371698.3_Missense_Mutation_p.P39R			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	39	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)	p.P39R(1)		kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CACGGGGACCCTGTCTCCGAG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											72.0	70.0	70.0					9																	139563044		2203	4297	6500	SO:0001583	missense	51162			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.116C>G	9.37:g.139563044C>G	ENSP00000360764:p.Pro39Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460076	0.43736	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.16	3.23	0.37069	EMI domain (2);	0.786286	0.12527	N	0.461133	T	0.34454	0.0898	N	0.16790	0.44	0.09310	N	1	P	0.45634	0.863	P	0.46629	0.522	T	0.14337	-1.0476	10	0.51188	T	0.08	-4.9907	12.0912	0.53728	0.1733:0.8267:0.0:0.0	.	39	Q9UHF1	EGFL7_HUMAN	R	39	ENSP00000360764:P39R;ENSP00000307843:P39R;ENSP00000385639:P39R;ENSP00000360763:P39R	ENSP00000307843:P39R	P	+	2	0	EGFL7	138682865	0.002000	0.14202	0.011000	0.14972	0.030000	0.12068	1.229000	0.32600	0.890000	0.36211	0.462000	0.41574	CCT		0.667	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1		NM_016215	
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs11260921	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:17084510G>A	ENST00000455405.2	-	0	379							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577																																																	4	Substitution - coding silent(4)	endometrium(2)|kidney(2)																																										0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084510G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37																																																																																					0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1		NM_001271733	
MUC4	4585	broad.mit.edu	37	3	195505801	195505801	+	Missense_Mutation	SNP	G	G	T	rs200432267		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr3:195505801G>T	ENST00000463781.3	-	2	13109	c.12650C>A	c.(12649-12651)gCa>gAa	p.A4217E	MUC4_ENST00000475231.1_Missense_Mutation_p.A4217E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4217E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											35.0	29.0	31.0					3																	195505801		692	1582	2274	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12650C>A	3.37:g.195505801G>T	ENSP00000417498:p.Ala4217Glu	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	1.223	-0.626255	0.03610	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.37;1.4	0.93	-1.86	0.07760	.	.	.	.	.	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.23018	0.043	T	0.13899	-1.0492	8	.	.	.	.	6.1781	0.20455	0.43:0.0:0.57:0.0	.	4089	E7ESK3	.	E	4217	ENSP00000417498:A4217E;ENSP00000420243:A4217E	.	A	-	2	0	MUC4	196990580	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.621000	0.01562	-1.862000	0.00560	GCA		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NAT14	57106	broad.mit.edu	37	19	55998035	55998035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:55998035delG	ENST00000205194.4	+	3	636	c.333delG	c.(331-333)ctgfs	p.L111fs	SSC5D_ENST00000587166.1_5'Flank|NAT14_ENST00000587400.1_Intron|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	111	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		GTGGGGTCCTGGCTCTGGCCC	0.771																																																	0													4.0	6.0	6.0					19																	55998035		1865	3706	5571	SO:0001589	frameshift_variant	57106			AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"""K562 cells-derived leucine zipper-like protein 1"""		"""N-acetyltransferase 14"""			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.333delG	19.37:g.55998035delG	ENSP00000205194:p.Leu111fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TDY7|Q9NS72	Frame_Shift_Del	DEL	ENST00000205194.4	37	CCDS12926.1																																																																																				0.771	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453339.1		NM_020378	
SRSF2	6427	broad.mit.edu	37	17	74732524	74732524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:74732524G>A	ENST00000392485.2	-	2	557	c.385C>T	c.(385-387)Cga>Tga	p.R129*	MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.R129*|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.R117*|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000588460.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711			Mis		"""MDS, CLL"""																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	2	Substitution - Nonsense(2)	kidney(2)											34.0	35.0	35.0					17																	74732524		2202	4300	6502	SO:0001587	stop_gained	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.385C>T	17.37:g.74732524G>A	ENSP00000376276:p.Arg129*	Somatic		WXS	Illumina GAIIx	Phase_I	B3KWD5|B4DN89|H0YG49	Nonsense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829177	0.96996	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.	.	.	4.68	1.33	0.21861	.	0.073617	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0558	0.42244	0.0:0.1338:0.589:0.2772	.	.	.	.	X	129;156;117;109	.	ENSP00000350877:R117X	R	-	1	2	SRSF2	72244119	1.000000	0.71417	0.589000	0.28718	0.920000	0.55202	2.703000	0.47110	0.021000	0.15133	0.467000	0.42956	CGA		0.711	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1		NM_003016	
TTYH3	80727	broad.mit.edu	37	7	2698601	2698601	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr7:2698601C>T	ENST00000258796.7	+	13	1657	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	TTYH3_ENST00000407643.1_Silent_p.P452P|TTYH3_ENST00000403167.1_Silent_p.P313P	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	484					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P484P(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCCAGAACCCCCGCTGTGAGA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	138.0	140.0					7																	2698601		2203	4300	6503	SO:0001819	synonymous_variant	80727				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1452C>T	7.37:g.2698601C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	CCDS34588.1																																																																																				0.657	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2		XM_166523	
UBXN11	91544	broad.mit.edu	37	1	26608890	26608891	+	Frame_Shift_Del	DEL	CC	CC	-	rs376181141		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:26608890_26608891delCC	ENST00000374222.1	-	16	1926_1927	c.1462_1463delGG	c.(1462-1464)ggtfs	p.G488fs	UBXN11_ENST00000374223.1_Frame_Shift_Del_p.G245fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.G368fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.G488fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.G455fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggaccgggaccgggacaggga	0.713																																																	0																																										SO:0001589	frameshift_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1462_1463delGG	1.37:g.26608890_26608891delCC	ENSP00000363339:p.Gly488fs	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	ENST00000374222.1	37	CCDS41288.1																																																																																				0.713	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1		NM_145345	
UBXN11	91544	broad.mit.edu	37	1	26608893	26608896	+	Frame_Shift_Del	DEL	GGAC	GGAC	-	rs72872911|rs367932248|rs534102934	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	GGAC	GGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:26608893_26608896delGGAC	ENST00000374222.1	-	16	1921_1924	c.1457_1460delGTCC	c.(1456-1461)tgtcccfs	p.CP486fs	UBXN11_ENST00000374223.1_Frame_Shift_Del_p.CP243fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.CP366fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.CP453fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.CP486fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.CP453fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	486	Pro-rich.		C -> CPGPGPGPS. {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						accgggaccgggacagggaccagg	0.716																																																	0																																										SO:0001589	frameshift_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1457_1460delGTCC	1.37:g.26608893_26608896delGGAC	ENSP00000363339:p.Cys486fs	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	ENST00000374222.1	37	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1		NM_145345	
SMG1P7	100506060	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:70268081G>A	ENST00000459379.1	-	0	0																											TCTTACTGTTGGCTAAAAGGC	0.373																																																	0																																												0																															16.37:g.70268081G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
