#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AASDH	132949	genome.wustl.edu	37	4	57237717	57237717	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:57237717G>A	ENST00000205214.6	-	5	941	c.761C>T	c.(760-762)tCa>tTa	p.S254L	AASDH_ENST00000602986.1_Missense_Mutation_p.S101L|AASDH_ENST00000513376.1_Missense_Mutation_p.S154L|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.S254L|AASDH_ENST00000502617.1_Missense_Mutation_p.S254L|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	254					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGCACCACTTGATAGAGCAAG	0.428																																																	0													117.0	98.0	104.0					4																	57237717		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.761C>T	4.37:g.57237717G>A	ENSP00000205214:p.Ser254Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.S254L	ENST00000205214.6	37	c.761	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650458	0.87958	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.271687	0.36591	N	0.002512	T	0.34890	0.0913	N	0.12920	0.275	0.47949	D	0.99955	P;D;D;P	0.64830	0.824;0.994;0.992;0.951	P;P;P;P	0.58266	0.474;0.836;0.804;0.735	T	0.04885	-1.0920	10	0.05436	T	0.98	-6.1735	18.3527	0.90344	0.0:0.0:1.0:0.0	.	101;254;254;254	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	L	254;154;254;101;254	ENSP00000205214:S254L;ENSP00000423760:S154L;ENSP00000409656:S254L;ENSP00000421171:S254L	ENSP00000205214:S254L	S	-	2	0	AASDH	56932474	1.000000	0.71417	0.972000	0.41901	0.700000	0.40528	6.186000	0.72026	2.424000	0.82194	0.645000	0.84053	TCA	AASDH	-	pfam_AMP-dep_Synth/Lig		0.428	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	G	NM_181806		57237717	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	0.986	A
ABI3	51225	genome.wustl.edu	37	17	47295176	47295176	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:47295176G>A	ENST00000225941.1	+	3	859	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	ABI3_ENST00000419580.2_Missense_Mutation_p.G115S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	121					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GCTGCCCCCCGGCCAGAAGGT	0.597										HNSCC(55;0.14)																																							0													95.0	94.0	95.0					17																	47295176		2203	4300	6503	SO:0001583	missense	51225			AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.361G>A	17.37:g.47295176G>A	ENSP00000225941:p.Gly121Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZN8|Q9H0P6	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G121S	ENST00000225941.1	37	c.361	CCDS11546.1	17	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096191	0.20552	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	T;T	0.08458	3.09;3.1	4.92	-2.18	0.07037	Abl-interactor, homeo-domain homologous domain (1);	0.982410	0.08325	N	0.963251	T	0.03095	0.0091	N	0.05078	-0.115	0.09310	N	0.999999	B;B	0.16396	0.014;0.017	B;B	0.15484	0.008;0.013	T	0.46428	-0.9192	10	0.21014	T	0.42	-10.3686	2.6373	0.04961	0.4967:0.123:0.255:0.1254	.	115;121	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	S	121;115	ENSP00000225941:G121S;ENSP00000406651:G115S	ENSP00000225941:G121S	G	+	1	0	ABI3	44650175	0.052000	0.20516	0.775000	0.31657	0.446000	0.32137	0.430000	0.21428	-0.195000	0.10382	0.555000	0.69702	GGC	ABI3	-	pfam_Abl-interactor_HHR_dom		0.597	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	HGNC	protein_coding	OTTHUMT00000364475.1	G	NM_016428		47295176	+1	no_errors	ENST00000225941	ensembl	human	known	70_37	missense	SNP	0.018	A
ABL2	27	genome.wustl.edu	37	1	179095626	179095626	+	Silent	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:179095626G>A	ENST00000502732.1	-	4	776	c.573C>T	c.(571-573)atC>atT	p.I191I	ABL2_ENST00000344730.3_Silent_p.I176I|ABL2_ENST00000504405.1_Silent_p.I155I|ABL2_ENST00000511413.1_Silent_p.I191I|ABL2_ENST00000512653.1_Silent_p.I176I|ABL2_ENST00000507173.1_Silent_p.I170I|ABL2_ENST00000392043.3_Silent_p.I170I|ABL2_ENST00000367623.4_Silent_p.I170I|ABL2_ENST00000408940.3_Silent_p.I155I	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	191	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCTGCCATTGATTAGACTGC	0.527			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													142.0	124.0	130.0					1																	179095626		2203	4300	6503	SO:0001819	synonymous_variant	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.573C>T	1.37:g.179095626G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.I191	ENST00000502732.1	37	c.573	CCDS30947.1	1																																																																																			ABL2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.527	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	G	NM_005158		179095626	-1	no_errors	ENST00000502732	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33891856	33891856	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:33891856G>A	ENST00000504830.1	-	1	441	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R36C|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R36C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	36					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCGGGAAGCGAACCGGGCCT	0.527										HNSCC(64;0.19)																																							0													108.0	119.0	115.0					5																	33891856		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.106C>T	5.37:g.33891856G>A	ENSP00000422554:p.Arg36Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R36C	ENST00000504830.1	37	c.106	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301176	0.23650	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.60171	0.21;0.22;3.03	5.61	1.0	0.19881	.	0.780519	0.11860	N	0.522484	T	0.42899	0.1223	N	0.19112	0.55	0.09310	N	1	D;P;D	0.60160	0.987;0.853;0.978	P;B;B	0.47705	0.555;0.183;0.249	T	0.26360	-1.0105	10	0.52906	T	0.07	.	4.5032	0.11874	0.0971:0.271:0.494:0.1379	.	36;36;36	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	C	36	ENSP00000422554:R36C;ENSP00000344847:R36C;ENSP00000421638:R36C	ENSP00000344847:R36C	R	-	1	0	ADAMTS12	33927613	0.505000	0.26131	0.012000	0.15200	0.344000	0.29017	1.150000	0.31639	0.263000	0.21812	-0.238000	0.12139	CGC	ADAMTS12	-	NULL		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33891856	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.000	A
AGAP11	119385	genome.wustl.edu	37	10	88760457	88760457	+	RNA	DEL	T	T	-			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr10:88760457delT	ENST00000444431.1	+	0	1587				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CTGTGCATCGTTTTTTTTTTG	0.368																																																	0																																												119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88760457delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIP7|D3DWE4	RNA	DEL	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-		0.368	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	T	NM_133447		88760457	+1	no_errors	ENST00000444431	ensembl	human	known	70_37	rna	DEL	0.003	-
ANKRD13B	124930	genome.wustl.edu	37	17	27936291	27936291	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:27936291G>C	ENST00000394859.3	+	6	907	c.753G>C	c.(751-753)gaG>gaC	p.E251D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	251						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCTTTGAGAGGTGGGTGG	0.617																																																	0													33.0	30.0	31.0					17																	27936291		2203	4300	6503	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.753G>C	17.37:g.27936291G>C	ENSP00000378328:p.Glu251Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.E251D	ENST00000394859.3	37	c.753	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.335293	0.95758	.	.	ENSG00000198720	ENST00000394859	T	0.50001	0.76	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.81590	-0.0863	10	0.72032	D	0.01	-30.273	19.2235	0.93808	0.0:0.0:1.0:0.0	.	251	Q86YJ7	AN13B_HUMAN	D	251	ENSP00000378328:E251D	ENSP00000378328:E251D	E	+	3	2	ANKRD13B	24960417	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.710000	0.61873	2.652000	0.90054	0.561000	0.74099	GAG	ANKRD13B	-	pfam_ANKRD13		0.617	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	G	NM_152345		27936291	+1	no_errors	ENST00000394859	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD20A11P	391267	genome.wustl.edu	37	21	15297553	15297553	+	IGR	SNP	C	C	T	rs185928468	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr21:15297553C>T								CYP4F29P (76868 upstream) : ANKRD20A11P (18536 downstream)																							CCATGGCAATCGAAGTCTTCA	0.269																																																	0																																										SO:0001628	intergenic_variant	391267																															21.37:g.15297553C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		21																																																																																			ANKRD20A11P	-	-	0	0.269					ANKRD20A11P	HGNC			C			15297553	-1	no_errors	ENST00000442192	ensembl	human	known	70_37	rna	SNP	0.000	T
ASUN	55726	genome.wustl.edu	37	12	27089604	27089604	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:27089604C>A	ENST00000261191.7	-	2	669	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|ASUN_ENST00000539625.1_Intron|FGFR1OP2_ENST00000546072.1_5'Flank	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	45					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATATGGGGGCCAAAGGAATG	0.398																																																	0													90.0	93.0	92.0					12																	27089604		2203	4300	6503	SO:0001583	missense	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.133G>T	12.37:g.27089604C>A	ENSP00000261191:p.Ala45Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.A45S	ENST00000261191.7	37	c.133	CCDS8708.1	12	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747554	0.69533	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.43688	0.94;0.94;0.94	5.51	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.39397	1.21	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.10086	-1.0645	10	0.33141	T	0.24	-3.8853	15.9698	0.80004	0.1361:0.8639:0.0:0.0	.	45	Q9NVM9	M89BB_HUMAN	S	45	ENSP00000261191:A45S;ENSP00000446183:A45S;ENSP00000443066:A45S	ENSP00000261191:A45S	A	-	1	0	C12orf11	26980871	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.708000	0.68377	1.431000	0.47355	0.655000	0.94253	GCC	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb		0.398	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	C	NM_018164		27089604	-1	no_errors	ENST00000261191	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKS1B	56899	genome.wustl.edu	37	12	99478734	99478734	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:99478734C>G	ENST00000547776.2	-	16	2593	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T	ANKS1B_ENST00000332712.7_Missense_Mutation_p.R91T|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R91T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R865T|ANKS1B_ENST00000550693.2_Missense_Mutation_p.R91T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R441T|RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R91T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.R91T|ANKS1B_ENST00000547446.1_Missense_Mutation_p.R60T|ANKS1B_ENST00000549025.2_Missense_Mutation_p.R34T|ANKS1B_ENST00000549558.2_Missense_Mutation_p.R91T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	865	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTGTAGAATTCTTTGTCTGTG	0.413																																																	0													91.0	88.0	89.0					12																	99478734		1858	4092	5950	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2594G>C	12.37:g.99478734C>G	ENSP00000449629:p.Arg865Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.R865T	ENST00000547776.2	37	c.2594	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382673|4.382673	0.82792|0.82792	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245	.|T;T;T;T;T;D;T;T;T;T;T	.|0.85013	.|0.53;0.53;0.53;0.53;0.53;-1.93;0.53;0.53;0.53;0.53;0.53	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88683|0.88683	0.6503|0.6503	L|L	0.37800|0.37800	1.135|1.135	0.44719|0.44719	D|D	0.997712|0.997712	.|P;P;P;P;P;P;D;P;P;P;P	.|0.63880	.|0.709;0.832;0.946;0.805;0.703;0.54;0.993;0.846;0.703;0.946;0.544	.|P;P;P;P;P;B;D;P;B;P;B	.|0.77004	.|0.488;0.766;0.752;0.726;0.621;0.389;0.989;0.467;0.285;0.85;0.389	D|D	0.89226|0.89226	0.3574|0.3574	5|10	.|0.56958	.|D	.|0.05	-12.5155|-12.5155	15.8446|15.8446	0.78876|0.78876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;91;91;91;79;91;91;34;441;865;91	.|F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	Q|T	137|91;865;441;865;440;91;34;91;60;91;91;27;91;91	.|ENSP00000448993:R91T;ENSP00000449629:R865T;ENSP00000448512:R441T;ENSP00000331381:R865T;ENSP00000447999:R91T;ENSP00000447312:R34T;ENSP00000448203:R91T;ENSP00000450015:R60T;ENSP00000448205:R91T;ENSP00000332683:R91T;ENSP00000447839:R91T	.|ENSP00000331381:R865T	E|R	-|-	1|2	0|0	ANKS1B|ANKS1B	98002865|98002865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	6.318000|6.318000	0.72866|0.72866	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GAA|AGA	ANKS1B	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	C	NM_020140		99478734	-1	no_errors	ENST00000329257	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP10A	57194	genome.wustl.edu	37	15	25940070	25940070	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:25940070G>T	ENST00000356865.6	-	14	3095	c.2984C>A	c.(2983-2985)gCc>gAc	p.A995D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	995					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACTGCTTGGCAAGGAAGAG	0.612																																																	0													85.0	83.0	83.0					15																	25940070		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2984C>A	15.37:g.25940070G>T	ENSP00000349325:p.Ala995Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A995D	ENST00000356865.6	37	c.2984	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.105364	0.94245	.	.	ENSG00000206190	ENST00000356865	D	0.86366	-2.11	5.43	5.43	0.79202	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	H	0.94925	3.6	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.96313	0.9230	10	0.66056	D	0.02	-30.0304	19.2412	0.93883	0.0:0.0:1.0:0.0	.	995	O60312	AT10A_HUMAN	D	995	ENSP00000349325:A995D	ENSP00000349325:A995D	A	-	2	0	ATP10A	23491163	1.000000	0.71417	0.873000	0.34254	0.836000	0.47400	9.534000	0.98061	2.552000	0.86080	0.563000	0.77884	GCC	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25940070	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD2	6046	genome.wustl.edu	37	6	32943932	32943932	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:32943932G>A	ENST00000374825.4	+	5	2297	c.596G>A	c.(595-597)gGg>gAg	p.G199E	BRD2_ENST00000374831.4_Missense_Mutation_p.G199E|BRD2_ENST00000449085.2_Missense_Mutation_p.G152E|BRD2_ENST00000443797.2_Missense_Mutation_p.G79E|BRD2_ENST00000395287.1_Missense_Mutation_p.G199E|BRD2_ENST00000395289.2_Missense_Mutation_p.G199E	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	199					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CACAAGAAGGGGGCCAAGTTG	0.453																																																	0													67.0	64.0	65.0					6																	32943932		1510	2708	4218	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.596G>A	6.37:g.32943932G>A	ENSP00000363958:p.Gly199Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G199E	ENST00000374825.4	37	c.596	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.319327|2.319327	0.41096|0.41096	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T;T|T;T	0.08458|0.18338	3.25;3.25;3.24;3.09;3.24;3.24|2.22;3.23	5.74|5.74	4.86|4.86	0.63082|0.63082	.|.	0.000000|0.000000	0.51477|0.51477	D|D	0.000088|0.000088	T|T	0.12732|0.12732	0.0309|0.0309	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.45634|.	0.863;0.668|.	B;B|.	0.40009|.	0.316;0.316|.	T|T	0.03728|0.03728	-1.1009|-1.1009	10|8	0.06757|0.07030	T|T	0.87|0.85	-20.5521|-20.5521	9.9941|9.9941	0.41889|0.41889	0.0903:0.0:0.9097:0.0|0.0903:0.0:0.9097:0.0	.|.	199;199|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	E|R	199;199;199;79;199;152|201;205	ENSP00000363958:G199E;ENSP00000363964:G199E;ENSP00000378704:G199E;ENSP00000413495:G79E;ENSP00000378702:G199E;ENSP00000409145:G152E|ENSP00000411195:G201R;ENSP00000409613:G205R	ENSP00000363958:G199E|ENSP00000409613:G205R	G|G	+|+	2|1	0|0	BRD2|BRD2	33051910|33051910	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.914000|3.914000	0.56401|0.56401	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	GGG|GGG	BRD2	-	NULL		0.453	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	G			32943932	+1	no_errors	ENST00000395289	ensembl	human	known	70_37	missense	SNP	1.000	A
C11orf21	29125	genome.wustl.edu	37	11	2320718	2320718	+	Missense_Mutation	SNP	G	G	A	rs546102923		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:2320718G>A	ENST00000381153.3	-	3	618	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	TSPAN32_ENST00000381121.3_5'Flank|TSPAN32_ENST00000182290.4_5'Flank|C11orf21_ENST00000470369.1_5'UTR			Q9P2W6	CK021_HUMAN	chromosome 11 open reading frame 21	123						cytoplasm (GO:0005737)											CTCCTGGCCCGAGGACACAGC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16549	0.0		0.001	False		,,,				2504	0.0																0													30.0	37.0	35.0					11																	2320718		691	1587	2278	SO:0001583	missense	29125			AB029488	CCDS44518.1	11p15.5	2012-08-09			ENSG00000110665	ENSG00000110665			13231	protein-coding gene	gene with protein product		611033				11054561	Standard	NM_001142946		Approved		uc009ydj.2	Q9P2W6	OTTHUMG00000009759	ENST00000381153.3:c.367C>T	11.37:g.2320718G>A	ENSP00000370545:p.Arg123Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R169W	ENST00000381153.3	37	c.505		11	.	.	.	.	.	.	.	.	.	.	G	8.024	0.760312	0.15914	.	.	ENSG00000110665	ENST00000381153;ENST00000456145	.	.	.	1.8	-3.6	0.04570	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16247	-1.0409	8	0.87932	D	0	.	3.1654	0.06534	0.4089:0.0:0.3959:0.1952	.	169;123	E9PAM5;Q9P2W6	.;CK021_HUMAN	W	123;169	.	ENSP00000370545:R123W	R	-	1	2	C11orf21	2277294	0.001000	0.12720	0.002000	0.10522	0.025000	0.11179	-0.249000	0.08842	-1.293000	0.02362	-2.189000	0.00312	CGG	C11orf21	-	NULL		0.627	C11orf21-001	KNOWN	basic	protein_coding	C11orf21	HGNC	protein_coding	OTTHUMT00000026908.2	G	NM_001142946		2320718	-1	no_errors	ENST00000456145	ensembl	human	known	70_37	missense	SNP	0.026	A
CACNA1H	8912	genome.wustl.edu	37	16	1268999	1268999	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:1268999G>A	ENST00000348261.5	+	34	6165	c.5917G>A	c.(5917-5919)Gca>Aca	p.A1973T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1967T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1967T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1973					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCTCCGCCCGCAGAGTCCTG	0.697																																																	0													8.0	10.0	9.0					16																	1268999		1702	3354	5056	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5917G>A	16.37:g.1268999G>A	ENSP00000334198:p.Ala1973Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.A1973T	ENST00000348261.5	37	c.5917	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	12.24	1.877853	0.33162	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96774	-4.12;-4.07	4.43	1.36	0.22044	.	.	.	.	.	D	0.88492	0.6451	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33857	0.008;0.429;0.002	B;B;B	0.25140	0.002;0.058;0.002	T	0.79505	-0.1776	9	0.19590	T	0.45	.	3.1815	0.06586	0.1018:0.21:0.5332:0.155	.	719;1967;1973	A2SX38;O95180-2;O95180	.;.;CAC1H_HUMAN	T	1973;1967	ENSP00000334198:A1973T;ENSP00000351401:A1967T	ENSP00000334198:A1973T	A	+	1	0	CACNA1H	1209000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.087000	0.14958	0.150000	0.19136	0.454000	0.30748	GCA	CACNA1H	-	NULL		0.697	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1268999	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	0.002	A
CEP250	11190	genome.wustl.edu	37	20	34079140	34079140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr20:34079140C>T	ENST00000397527.1	+	22	3577	c.2857C>T	c.(2857-2859)Cag>Tag	p.Q953*	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q897*|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	953	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACGACTGAGGCAGGACATGAA	0.527																																																	0													67.0	55.0	59.0					20																	34079140		2203	4300	6503	SO:0001587	stop_gained	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2857C>T	20.37:g.34079140C>T	ENSP00000380661:p.Gln953*	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q953*	ENST00000397527.1	37	c.2857	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	C	47	13.230503	0.99728	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	4.76	4.76	0.60689	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.6187	0.68569	0.0:1.0:0.0:0.0	.	.	.	.	X	953;897	.	ENSP00000341541:Q897X	Q	+	1	0	CEP250	33542554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.688000	0.46984	2.494000	0.84150	0.455000	0.32223	CAG	CEP250	-	NULL		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	C	NM_007186		34079140	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	179961214	179961214	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:179961214G>A	ENST00000367607.3	+	5	671	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	85					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATACCTGGATGATTCTTGGGT	0.378																																																	0													43.0	41.0	42.0					1																	179961214		2202	4296	6498	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.253G>A	1.37:g.179961214G>A	ENSP00000356579:p.Asp85Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D85N	ENST00000367607.3	37	c.253	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160915	0.78226	.	.	ENSG00000135837	ENST00000367607;ENST00000491495;ENST00000357434	T	0.61627	0.09	5.64	5.64	0.86602	.	0.000000	0.47852	D	0.000215	T	0.53012	0.1770	N	0.24115	0.695	0.35959	D	0.834448	B;P;P	0.52463	0.39;0.953;0.865	B;P;P	0.47744	0.127;0.556;0.521	T	0.56517	-0.7966	9	.	.	.	.	19.6584	0.95853	0.0:0.0:1.0:0.0	.	85;85;59	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	N	85;59;84	ENSP00000356579:D85N	.	D	+	1	0	CEP350	178227837	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.929000	0.48916	2.817000	0.96982	0.643000	0.83706	GAT	CEP350	-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		179961214	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A
CLK1	1195	genome.wustl.edu	37	2	201724850	201724850	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:201724850C>G	ENST00000321356.4	-	4	614	c.479G>C	c.(478-480)aGa>aCa	p.R160T	CLK1_ENST00000434813.2_Missense_Mutation_p.R202T|CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	160					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCTATACATCTTGCACTTAG	0.363																																																	0													153.0	135.0	141.0					2																	201724850		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.479G>C	2.37:g.201724850C>G	ENSP00000326830:p.Arg160Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R160T	ENST00000321356.4	37	c.479	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031907	0.75504	.	.	ENSG00000013441	ENST00000321356;ENST00000434813	T;T	0.22945	1.93;1.93	5.38	5.38	0.77491	Protein kinase-like domain (1);	0.105349	0.64402	D	0.000005	T	0.40322	0.1112	M	0.76838	2.35	0.80722	D	1	P;P	0.48350	0.909;0.832	P;B	0.45037	0.467;0.37	T	0.46541	-0.9184	10	0.87932	D	0	.	19.1139	0.93330	0.0:1.0:0.0:0.0	.	202;160	B4DFW7;P49759	.;CLK1_HUMAN	T	160;202	ENSP00000326830:R160T;ENSP00000394734:R202T	ENSP00000326830:R160T	R	-	2	0	CLK1	201433095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	2.672000	0.90937	0.650000	0.86243	AGA	CLK1	-	superfamily_Kinase-like_dom		0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201724850	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	1.000	G
DALRD3	55152	genome.wustl.edu	37	3	49054257	49054257	+	Silent	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:49054257C>T	ENST00000341949.4	-	6	957	c.951G>A	c.(949-951)gtG>gtA	p.V317V	DALRD3_ENST00000395462.4_Silent_p.V150V|DALRD3_ENST00000313778.5_Silent_p.V150V|DALRD3_ENST00000440857.1_Silent_p.V150V|DALRD3_ENST00000441576.2_Silent_p.V317V|DALRD3_ENST00000496568.1_5'Flank	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	317					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCTACTTTCACAGGGCCAC	0.567																																																	0													91.0	85.0	87.0					3																	49054257		2203	4300	6503	SO:0001819	synonymous_variant	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.951G>A	3.37:g.49054257C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.V317	ENST00000341949.4	37	c.951	CCDS33754.1	3																																																																																			DALRD3	-	NULL		0.567	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054257	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	silent	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32242914	32242914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:32242914C>A	ENST00000382112.3	+	30	3159	c.3089C>A	c.(3088-3090)tCa>tAa	p.S1030*	DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.S1039*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.S1030*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.S961*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.S1039*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.S1039*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.S1030*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.S961*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1039					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGGAACCTCAGCTCTCTCT	0.552																																																	0													76.0	79.0	78.0					22																	32242914		2017	4179	6196	SO:0001587	stop_gained	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3089C>A	22.37:g.32242914C>A	ENSP00000371546:p.Ser1030*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.S1039*	ENST00000382112.3	37	c.3116	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	C	41	8.894388	0.98994	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.31	4.28	0.50868	.	0.068833	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7376	0.69427	0.1459:0.8541:0.0:0.0	.	.	.	.	X	961;1039;1030;961;1039;961;1030;1039;1030	.	ENSP00000266091:S1039X	S	+	2	0	DEPDC5	30572914	1.000000	0.71417	0.980000	0.43619	0.290000	0.27261	7.084000	0.76866	1.370000	0.46153	-0.187000	0.12897	TCA	DEPDC5	-	NULL		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	C	NM_014662		32242914	+1	no_errors	ENST00000266091	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DET1	55070	genome.wustl.edu	37	15	89070930	89070930	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:89070930C>T	ENST00000268148.8	-	3	1316	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	DET1_ENST00000564406.1_Missense_Mutation_p.E402K|DET1_ENST00000444300.1_Missense_Mutation_p.E402K	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	391						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGAAGTTCTCAAAGAGCTCC	0.448																																																	0													84.0	83.0	83.0					15																	89070930		1915	4127	6042	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1171G>A	15.37:g.89070930C>T	ENSP00000268148:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.E402K	ENST00000268148.8	37	c.1204	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.280566	0.95489	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.047653	0.85682	D	0.000000	D	0.84361	0.5455	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.85882	0.1423	9	0.87932	D	0	-22.319	19.2867	0.94077	0.0:1.0:0.0:0.0	.	391;402	Q7L5Y6;B3KNN6	DET1_HUMAN;.	K	402;391	.	ENSP00000268148:E391K	E	-	1	0	DET1	86871934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.416000	0.80143	2.793000	0.96121	0.655000	0.94253	GAG	DET1	-	pfam_De-etiolated_protein_1_Det1		0.448	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	C	NM_017996		89070930	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAAF1	123872	genome.wustl.edu	37	16	84203864	84203864	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:84203864C>T	ENST00000378553.5	+	8	1554	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Silent_p.T414T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	477	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CTACTGTCACCGCCTGTGAAG	0.642																																																	0													48.0	47.0	47.0					16																	84203864		2199	4299	6498	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1430C>T	16.37:g.84203864C>T	ENSP00000367815:p.Pro477Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.P477L	ENST00000378553.5	37	c.1430	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	C	2.012	-0.426737	0.04701	.	.	ENSG00000154099	ENST00000378553	T	0.21543	2.0	1.12	-0.0255	0.13935	.	.	.	.	.	T	0.10981	0.0268	N	0.25647	0.755	0.09310	N	0.999999	B;B	0.22604	0.072;0.003	B;B	0.06405	0.002;0.0	T	0.31110	-0.9955	9	0.28530	T	0.3	.	2.8449	0.05540	0.0:0.3612:0.0:0.6388	.	241;477	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	L	477	ENSP00000367815:P477L	ENSP00000367815:P477L	P	+	2	0	DNAAF1	82761365	0.093000	0.21703	0.003000	0.11579	0.002000	0.02628	-0.017000	0.12590	-0.021000	0.14009	0.313000	0.20887	CCG	DNAAF1	-	NULL		0.642	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	C	NM_178452		84203864	+1	no_errors	ENST00000378553	ensembl	human	known	70_37	missense	SNP	0.007	T
EFCAB7	84455	genome.wustl.edu	37	1	63998424	63998424	+	Silent	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:63998424C>T	ENST00000371088.4	+	4	729	c.483C>T	c.(481-483)atC>atT	p.I161I	RN7SL488P_ENST00000585186.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	161	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTGACTACATCAAGGTACATA	0.318																																																	0													103.0	107.0	106.0					1																	63998424		2203	4298	6501	SO:0001819	synonymous_variant	84455			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.483C>T	1.37:g.63998424C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658P0|Q96B95|Q96JM6	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I161	ENST00000371088.4	37	c.483	CCDS30737.1	1																																																																																			EFCAB7	-	smart_EF_hand_Ca-bd		0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	C	NM_032437		63998424	+1	no_errors	ENST00000371088	ensembl	human	known	70_37	silent	SNP	0.743	T
ELP2	55250	genome.wustl.edu	37	18	33750155	33750155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr18:33750155C>T	ENST00000358232.6	+	20	2269	c.2206C>T	c.(2206-2208)Caa>Taa	p.Q736*	ELP2_ENST00000350494.6_Nonsense_Mutation_p.Q731*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.Q801*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.Q666*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.Q710*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.Q666*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	736					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCACCCTTCTCAACGGTCAGT	0.512																																																	0													136.0	114.0	121.0					18																	33750155		2203	4300	6503	SO:0001587	stop_gained	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2206C>T	18.37:g.33750155C>T	ENSP00000350967:p.Gln736*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q736*	ENST00000358232.6	37	c.2206	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967917	0.92855	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	4.7	2.71	0.32032	.	0.685163	0.15022	N	0.284941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.0E-4	6.7669	0.23573	0.2186:0.5974:0.1841:0.0	.	.	.	.	X	736;710;801;666;731;666	.	ENSP00000316051:Q731X	Q	+	1	0	ELP2	32004153	0.024000	0.19004	0.084000	0.20598	0.166000	0.22503	0.421000	0.21280	1.177000	0.42855	0.591000	0.81541	CAA	ELP2	-	superfamily_WD40_repeat_dom		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	C	NM_018255		33750155	+1	no_errors	ENST00000358232	ensembl	human	known	70_37	nonsense	SNP	0.255	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143378154	143378154	+	lincRNA	SNP	A	A	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:143378154A>G	ENST00000428624.1	+	0	874				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							TGTTAAAAAAACAAACGCTGC	0.333																																																	0																																												0																															1.37:g.143378154A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.333	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	A			143378154	+1	no_errors	ENST00000428624	ensembl	human	known	70_37	rna	SNP	0.004	G
LINC01347	731275	genome.wustl.edu	37	1	243211121	243211121	+	lincRNA	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:243211121G>C	ENST00000450226.1	-	0	136																											TCTCTTCCTCGAGCCTCCTTA	0.418																																																	0																																												0																															1.37:g.243211121G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450226.1	37	NULL		1																																																																																			RP11-261C10.2	-	-		0.418	RP11-261C10.2-003	KNOWN	basic	lincRNA	ENSG00000231512	Clone_based_vega_gene	lincRNA	OTTHUMT00000096161.1	G			243211121	-1	no_errors	ENST00000420830	ensembl	human	known	70_37	rna	SNP	1.000	C
CDON	50937	genome.wustl.edu	37	11	125825510	125825510	+	IGR	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:125825510G>A	ENST00000392693.3	-	0	9138				RP11-680F20.6_ENST00000529072.1_RNA|RP11-680F20.12_ENST00000582823.1_RNA|RP11-680F20.6_ENST00000531193.1_RNA|RP11-680F20.6_ENST00000524962.2_RNA	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCACTCTCAGGGAGCAAAGGC	0.542																																																	0																																										SO:0001628	intergenic_variant	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862		11.37:g.125825510G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14631	RNA	SNP	-	NULL	ENST00000392693.3	37	NULL	CCDS58192.1	11																																																																																			RP11-680F20.6	-	-		0.542	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254967	Clone_based_vega_gene	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125825510	+1	no_errors	ENST00000524962	ensembl	human	known	70_37	rna	SNP	0.989	A
IL9RP3	729486	genome.wustl.edu	37	16	84858	84858	+	RNA	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:84858C>G	ENST00000568710.1	-	0	337																											TCCCAGGCCTCTTCCTGCCTC	0.602																																																	0																																												0																															16.37:g.84858C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568710.1	37	NULL		16																																																																																			Z84812.4	-	-		0.602	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000260803	Clone_based_vega_gene	processed_transcript	OTTHUMT00000420570.1	C			84858	-1	no_errors	ENST00000568710	ensembl	human	known	70_37	rna	SNP	0.983	G
RPH3AL	9501	genome.wustl.edu	37	17	171366	171366	+	Intron	SNP	A	A	G	rs370966494		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:171366A>G	ENST00000331302.7	-	4	385				RP11-1260E13.1_ENST00000572998.1_RNA|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Intron|RPH3AL_ENST00000323434.8_Intron	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCAGGTGGCAACAGAGATGGC	0.682																																																	0																																										SO:0001627	intron_variant	0				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.78-160T>C	17.37:g.171366A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTG7|Q9BSB3	RNA	SNP	-	NULL	ENST00000331302.7	37	NULL	CCDS10994.1	17																																																																																			RP11-1260E13.1	-	-		0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262920	Clone_based_vega_gene	protein_coding	OTTHUMT00000206597.2	A	NM_006987		171366	+1	no_errors	ENST00000570501	ensembl	human	known	70_37	rna	SNP	0.059	G
FAM86B3P	286042	genome.wustl.edu	37	8	8092043	8092043	+	IGR	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:8092043C>T								FAM85B (7907 upstream) : ALG1L13P (3152 downstream)																							ATGAGCTGTACGAGGCGCTGG	0.582																																																	0																																										SO:0001628	intergenic_variant	286042																															8.37:g.8092043C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		8																																																																																			FAM86B3P	-	-	0	0.582					FAM86B3P	HGNC			C			8092043	+1	no_errors	ENST00000522601	ensembl	human	known	70_37	rna	SNP	0.986	T
FLNC	2318	genome.wustl.edu	37	7	128477264	128477264	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:128477264G>A	ENST00000325888.8	+	3	913	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FLNC_ENST00000346177.6_Missense_Mutation_p.A218T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	218	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.			A -> S (in Ref. 1; AAD12245 and 2; AAF68195). {ECO:0000305}.	cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGGAGAACGCCCGGGAGGC	0.701																																																	0													12.0	15.0	14.0					7																	128477264		1928	4111	6039	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.652G>A	7.37:g.128477264G>A	ENSP00000327145:p.Ala218Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A218T	ENST00000325888.8	37	c.652	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.786473	0.96937	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.95205	-3.64;-3.64	6.08	6.08	0.98989	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	L	0.27944	0.81	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.85130	0.997;0.875	D	0.95730	0.8774	10	0.66056	D	0.02	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	218;218	Q14315-2;Q14315	.;FLNC_HUMAN	T	218	ENSP00000327145:A218T;ENSP00000344002:A218T	ENSP00000327145:A218T	A	+	1	0	FLNC	128264500	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCC	FLNC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.701	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128477264	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM1	158326	genome.wustl.edu	37	9	14784445	14784445	+	Silent	SNP	G	G	A	rs370099735	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:14784445G>A	ENST00000380880.3	-	24	5148	c.4365C>T	c.(4363-4365)ttC>ttT	p.F1455F	FREM1_ENST00000422223.2_Silent_p.F1455F|FREM1_ENST00000380881.4_Silent_p.F1456F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1455					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATTTGGCTGAAGTTTGTAA	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17503	0.0		0.0	False		,,,				2504	0.0																0								G		4,3852		0,4,1924	103.0	98.0	100.0		4365	2.7	1.0	9		100	0,8276		0,0,4138	no	coding-synonymous	FREM1	NM_144966.5		0,4,6062	AA,AG,GG		0.0,0.1037,0.033		1455/2180	14784445	4,12128	1928	4138	6066	SO:0001819	synonymous_variant	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4365C>T	9.37:g.14784445G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.F1456	ENST00000380880.3	37	c.4368	CCDS47952.1	9																																																																																			FREM1	-	NULL		0.483	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	G	NM_144966		14784445	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	silent	SNP	1.000	A
GGT7	2686	genome.wustl.edu	37	20	33437774	33437774	+	Silent	SNP	C	C	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr20:33437774C>A	ENST00000336431.5	-	14	1859	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	605					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGTCCACCTGCAGGAGGTTGG	0.632																																																	0													28.0	31.0	30.0					20																	33437774		1933	4133	6066	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1815G>T	20.37:g.33437774C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.L605	ENST00000336431.5	37	c.1815	CCDS13242.2	20																																																																																			GGT7	-	pfam_GGT_peptidase		0.632	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	C	NM_178026		33437774	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	silent	SNP	1.000	A
GOLGA3	2802	genome.wustl.edu	37	12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T	rs375782880		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:133353621C>T	ENST00000450791.2	-	19	3961	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1260K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K			Q08378	GOGA3_HUMAN	golgin A3	1260	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587																																																	0								C	LYS/GLU	0,4406		0,0,2203	55.0	55.0	55.0		3778	5.6	1.0	12		55	1,8599		0,1,4299	no	missense	GOLGA3	NM_005895.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1260/1499	133353621	1,13005	2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3778G>A	12.37:g.133353621C>T	ENSP00000410378:p.Glu1260Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1260K	ENST00000450791.2	37	c.3778	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490475	0.84962	0.0	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78481	-1.18;-1.18;1.56	5.57	5.57	0.84162	.	0.092218	0.85682	D	0.000000	D	0.85881	0.5800	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.828;0.911	D	0.84661	0.0706	10	0.41790	T	0.15	.	19.5493	0.95311	0.0:1.0:0.0:0.0	.	1260;1260	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1260	ENSP00000204726:E1260K;ENSP00000410378:E1260K;ENSP00000409303:E1260K	ENSP00000204726:E1260K	E	-	1	0	GOLGA3	131863694	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.773000	0.85462	2.621000	0.88768	0.650000	0.86243	GAG	GOLGA3	-	NULL		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133353621	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCA5	8467	genome.wustl.edu	37	4	144481154	144481154	+	IGR	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:144481154C>T	ENST00000283131.3	+	0	7923				GUSBP5_ENST00000510805.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CTATCACCATCGGCAACATGC	0.622																																																	0													78.0	75.0	76.0					4																	144481154		692	1591	2283	SO:0001628	intergenic_variant	441046			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474		4.37:g.144481154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000283131.3	37	NULL	CCDS3761.1	4																																																																																			GUSBP5	-	-		0.622	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSBP5	HGNC	protein_coding	OTTHUMT00000365077.3	C			144481154	+1	no_errors	ENST00000509369	ensembl	human	known	70_37	rna	SNP	0.993	T
HIST1H1A	3024	genome.wustl.edu	37	6	26017563	26017563	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:26017563G>A	ENST00000244573.3	-	1	477	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	133					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						AGATGCACCCGTTGCCTTAGT	0.532																																																	0													108.0	116.0	113.0					6																	26017563		2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.398C>T	6.37:g.26017563G>A	ENSP00000244573:p.Thr133Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.T133M	ENST00000244573.3	37	c.398	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	6.811	0.518723	0.13005	.	.	ENSG00000124610	ENST00000244573	T	0.14640	2.49	4.31	3.44	0.39384	.	0.466509	0.22547	N	0.058655	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.39660	0.306	T	0.29518	-1.0009	10	0.62326	D	0.03	-2.4975	12.0011	0.53230	0.0863:0.0:0.9137:0.0	.	133	Q02539	H11_HUMAN	M	133	ENSP00000244573:T133M	ENSP00000244573:T133M	T	-	2	0	HIST1H1A	26125542	0.408000	0.25360	0.001000	0.08648	0.004000	0.04260	3.332000	0.52083	1.108000	0.41662	-0.192000	0.12808	ACG	HIST1H1A	-	NULL		0.532	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	G	NM_005325		26017563	-1	no_errors	ENST00000244573	ensembl	human	known	70_37	missense	SNP	0.030	A
KIAA0430	9665	genome.wustl.edu	37	16	15703466	15703466	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15703466G>A	ENST00000396368.3	-	20	4074	c.3868C>T	c.(3868-3870)Cac>Tac	p.H1290Y	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H1125Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H1287Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H1287Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H892Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.H1290Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1290	HTH OST-type 5. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAAAGTGGTGATGGTAAGAA	0.413																																																	0													82.0	80.0	80.0					16																	15703466		1881	4119	6000	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3868C>T	16.37:g.15703466G>A	ENSP00000379654:p.His1290Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H1290Y	ENST00000396368.3	37	c.3868	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808191	0.90707	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.997	D;D;D;D	0.85130	0.991;0.997;0.997;0.995	T	0.57248	-0.7844	10	0.72032	D	0.01	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1289;1287;1286;1289	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1290;1125;1230;892;1287;1290;1070	ENSP00000379654:H1290Y;ENSP00000439819:H1125Y;ENSP00000341939:H892Y;ENSP00000449376:H1287Y;ENSP00000450309:H1290Y	ENSP00000315718:H1230Y	H	-	1	0	KIAA0430	15610967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.242000	0.95408	2.885000	0.99019	0.655000	0.94253	CAC	KIAA0430	-	NULL		0.413	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15703466	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0430	9665	genome.wustl.edu	37	16	15703574	15703574	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15703574G>C	ENST00000396368.3	-	20	3966	c.3760C>G	c.(3760-3762)Cag>Gag	p.Q1254E	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q1089E|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1251E|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1251E|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q856E|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1254E	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1254					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTTCATCCTGAGTGCGTTCT	0.363																																																	0													63.0	59.0	60.0					16																	15703574		1849	4100	5949	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3760C>G	16.37:g.15703574G>C	ENSP00000379654:p.Gln1254Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.Q1254E	ENST00000396368.3	37	c.3760	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326236	0.41197	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.94	5.94	0.96194	.	0.252622	0.41823	D	0.000815	T	0.40272	0.1110	N	0.08118	0	0.39365	D	0.965986	P;P;P;P	0.42296	0.775;0.769;0.769;0.666	B;B;B;B	0.42282	0.382;0.275;0.275;0.212	T	0.44937	-0.9295	9	0.46703	T	0.11	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	1253;1251;1250;1253	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	E	1254;1089;1194;856;1251;1254;1034	.	ENSP00000315718:Q1194E	Q	-	1	0	KIAA0430	15611075	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.588000	0.60999	2.812000	0.96745	0.557000	0.71058	CAG	KIAA0430	-	NULL		0.363	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15703574	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.999	C
KIAA0430	9665	genome.wustl.edu	37	16	15706497	15706497	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:15706497G>C	ENST00000396368.3	-	17	3597	c.3391C>G	c.(3391-3393)Cat>Gat	p.H1131D	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.H966D|KIAA0430_ENST00000548025.1_Missense_Mutation_p.H1128D|KIAA0430_ENST00000602337.1_Missense_Mutation_p.H1128D|KIAA0430_ENST00000344181.3_Missense_Mutation_p.H733D|KIAA0430_ENST00000551742.1_Missense_Mutation_p.H1131D	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1131	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTGCAAAATGATGGTGATAG	0.478																																																	0													213.0	212.0	212.0					16																	15706497		2019	4210	6229	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3391C>G	16.37:g.15706497G>C	ENSP00000379654:p.His1131Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.H1131D	ENST00000396368.3	37	c.3391	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956823	0.92726	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.997	D;D;D;D	0.87578	0.993;0.998;0.998;0.996	T	0.69243	-0.5196	10	0.62326	D	0.03	.	19.2923	0.94105	0.0:0.0:1.0:0.0	.	1130;1128;1127;1130	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	D	1131;966;1071;733;1128;1131;911	ENSP00000379654:H1131D;ENSP00000439819:H966D;ENSP00000341939:H733D;ENSP00000449376:H1128D;ENSP00000450309:H1131D	ENSP00000315718:H1071D	H	-	1	0	KIAA0430	15613998	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	8.951000	0.93025	2.554000	0.86153	0.544000	0.68410	CAT	KIAA0430	-	NULL		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15706497	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0513	9764	genome.wustl.edu	37	16	85111196	85111196	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:85111196G>A	ENST00000566428.1	+	6	1371	c.740G>A	c.(739-741)gGg>gAg	p.G247E	KIAA0513_ENST00000258180.3_Missense_Mutation_p.G247E|KIAA0513_ENST00000567328.1_Missense_Mutation_p.G247E|KIAA0513_ENST00000538274.1_Missense_Mutation_p.G247E			O60268	K0513_HUMAN	KIAA0513	247						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TTCTTCGGGGGGCTGGAGACC	0.632																																																	0													30.0	37.0	35.0					16																	85111196		2198	4300	6498	SO:0001583	missense	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.740G>A	16.37:g.85111196G>A	ENSP00000457408:p.Gly247Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.G247E	ENST00000566428.1	37	c.740	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648950	0.87958	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	5.4	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.44697	-0.9311	10	0.51188	T	0.08	-2.7976	12.8285	0.57733	0.0795:0.0:0.9205:0.0	.	247;247	B4DSS5;O60268	.;K0513_HUMAN	E	247	ENSP00000446439:G247E;ENSP00000258180:G247E	ENSP00000258180:G247E	G	+	2	0	KIAA0513	83668697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.716000	0.91420	1.282000	0.44496	0.561000	0.74099	GGG	KIAA0513	-	NULL		0.632	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	G	NM_014732		85111196	+1	no_errors	ENST00000258180	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF13B	23303	genome.wustl.edu	37	8	28997699	28997699	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:28997699G>A	ENST00000524189.1	-	21	2532	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W	RN7SL781P_ENST00000582428.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	832					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACGTGCAGCCGACCTGCCACC	0.542																																																	0													46.0	48.0	47.0					8																	28997699		2183	4282	6465	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2494C>T	8.37:g.28997699G>A	ENSP00000427900:p.Arg832Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R832W	ENST00000524189.1	37	c.2494	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694526	0.68386	.	.	ENSG00000197892	ENST00000524189	T	0.70869	-0.52	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86479	0.1790	10	0.66056	D	0.02	.	18.0586	0.89370	0.0:0.0:1.0:0.0	.	832	F8VPJ2	.	W	832	ENSP00000427900:R832W	ENSP00000427900:R832W	R	-	1	2	KIF13B	29053618	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	6.057000	0.71119	2.490000	0.84030	0.655000	0.94253	CGG	KIF13B	-	NULL		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28997699	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	A
LACTB	114294	genome.wustl.edu	37	15	63433478	63433478	+	Splice_Site	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:63433478G>C	ENST00000261893.4	+	6	1190		c.e6-1		RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTTCCTTTTAGATTTTATGTT	0.338																																					Melanoma(85;443 1381 6215 27308 35583)												0													57.0	58.0	58.0					15																	63433478		2203	4300	6503	SO:0001630	splice_region_variant	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1119-1G>C	15.37:g.63433478G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	P83096	Splice_Site	SNP	-	e6-1	ENST00000261893.4	37	c.1119-1	CCDS10182.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114590	0.77210	.	.	ENSG00000103642	ENST00000261893	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0467	0.93022	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LACTB	61220531	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.498000	0.97972	2.817000	0.96982	0.563000	0.77884	.	LACTB	-	-		0.338	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	G	NM_032857	Intron	63433478	+1	no_errors	ENST00000261893	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MAD1L1	8379	genome.wustl.edu	37	7	1855517	1855517	+	3'UTR	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:1855517C>T	ENST00000406869.1	-	0	2903				MAD1L1_ENST00000399654.2_3'UTR|MAD1L1_ENST00000265854.7_3'UTR|MAD1L1_ENST00000402746.1_3'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGCATGGGGTCTGCACGTGGA	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.*189G>A	7.37:g.1855517C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	RNA	SNP	-	NULL	ENST00000406869.1	37	NULL	CCDS43539.1	7																																																																																			MAD1L1	-	-		0.647	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	HGNC	protein_coding	OTTHUMT00000322871.1	C	NM_003550		1855517	-1	no_errors	ENST00000468372	ensembl	human	known	70_37	rna	SNP	0.000	T
MALAT1	378938	genome.wustl.edu	37	11	65271372	65271372	+	lincRNA	SNP	G	G	A	rs138668622	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:65271372G>A	ENST00000534336.1	+	0	6140					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAACCTCTTAGACAGGTGGGA	0.333																																																	0													26.0	27.0	27.0					11																	65271372		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271372G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.333	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65271372	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	1.000	A
MALAT1	378938	genome.wustl.edu	37	11	65271994	65271994	+	lincRNA	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:65271994G>C	ENST00000534336.1	+	0	6762					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCTGAGTGTTGAGGAAATTTC	0.373																																																	0													55.0	53.0	53.0					11																	65271994		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271994G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.373	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65271994	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	1.000	C
MALAT1	378938	genome.wustl.edu	37	11	65272527	65272527	+	lincRNA	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:65272527G>A	ENST00000534336.1	+	0	7295					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TACAAAGTCAGATCAGTTATG	0.418																																																	0													61.0	61.0	61.0					11																	65272527		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272527G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.418	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65272527	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.017	A
MBD3	53615	genome.wustl.edu	37	19	1581162	1581162	+	Silent	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:1581162C>T	ENST00000434436.3	-	5	735	c.606G>A	c.(604-606)aaG>aaA	p.K202K	MBD3_ENST00000156825.1_Silent_p.K202K|MBD3_ENST00000592012.1_Silent_p.K170K|MBD3_ENST00000590550.2_Silent_p.K146K|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000585967.1_5'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	202					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGGGTTCTTCTCCACGG	0.652																																																	0													97.0	74.0	82.0					19																	1581162		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.606G>A	19.37:g.1581162C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.K202	ENST00000434436.3	37	c.606	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1581162	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T
MGP	4256	genome.wustl.edu	37	12	15037770	15037770	+	Intron	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:15037770G>A	ENST00000539261.1	-	2	196				C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.S38F	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CCAGTTCAGAGAGAGAACTGA	0.448																																																	0																																										SO:0001627	intron_variant	4256			M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.62-591C>T	12.37:g.15037770G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_bone	p.S38F	ENST00000539261.1	37	c.113	CCDS8669.1	12	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369032	0.42003	.	.	ENSG00000111341	ENST00000228938	T	0.33654	1.4	4.48	3.47	0.39725	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23619	-1.0183	6	0.54805	T	0.06	.	8.3263	0.32158	0.1168:0.0:0.8832:0.0	.	.	.	.	F	38	ENSP00000228938:S38F	ENSP00000228938:S38F	S	-	2	0	MGP	14929037	0.343000	0.24818	0.448000	0.26945	0.248000	0.25809	1.615000	0.36922	1.329000	0.45376	0.655000	0.94253	TCT	MGP	-	NULL		0.448	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGP	HGNC	protein_coding	OTTHUMT00000400864.1	G	NM_000900		15037770	-1	no_errors	ENST00000228938	ensembl	human	novel	70_37	missense	SNP	0.509	A
MMP11	4320	genome.wustl.edu	37	22	24121514	24121514	+	Silent	SNP	C	C	T	rs144178537		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:24121514C>T	ENST00000215743.3	+	2	301	c.249C>T	c.(247-249)ccC>ccT	p.P83P	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	83					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GTGGCGTGCCCGACCCATCTG	0.697																																																	0								C		1,4405		0,1,2202	19.0	20.0	20.0		249	-0.6	1.0	22	dbSNP_134	20	0,8600		0,0,4300	no	coding-synonymous	MMP11	NM_005940.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		83/489	24121514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.249C>T	22.37:g.24121514C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.P83	ENST00000215743.3	37	c.249	CCDS13816.1	22																																																																																			MMP11	-	pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	C	NM_005940		24121514	+1	no_errors	ENST00000215743	ensembl	human	known	70_37	silent	SNP	0.961	T
MYO9B	4650	genome.wustl.edu	37	19	17312782	17312782	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:17312782C>G	ENST00000594824.1	+	27	4758	c.4611C>G	c.(4609-4611)atC>atG	p.I1537M	MYO9B_ENST00000397274.2_Missense_Mutation_p.I1537M|MYO9B_ENST00000595618.1_Missense_Mutation_p.I1537M			Q13459	MYO9B_HUMAN	myosin IXB	1537	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTTGTTTATCGAAGCCACCG	0.572																																																	0													76.0	76.0	76.0					19																	17312782		1978	4173	6151	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4611C>G	19.37:g.17312782C>G	ENSP00000471367:p.Ile1537Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.I1537M	ENST00000594824.1	37	c.4611		19	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812703	0.32053	.	.	ENSG00000099331	ENST00000397274	D	0.84516	-1.86	4.82	-0.284	0.12870	.	0.245896	0.28301	N	0.015843	D	0.85605	0.5735	L	0.51422	1.61	0.30017	N	0.814671	D;D;D;D	0.64830	0.977;0.994;0.977;0.989	P;P;P;P	0.61275	0.687;0.886;0.687;0.772	T	0.80360	-0.1415	10	0.51188	T	0.08	.	7.6483	0.28334	0.0:0.4359:0.0:0.5641	.	1537;1537;1537;1543	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	M	1537	ENSP00000380444:I1537M	ENSP00000380444:I1537M	I	+	3	3	MYO9B	17173782	0.032000	0.19561	0.999000	0.59377	0.376000	0.30014	-0.699000	0.05087	0.101000	0.17610	-0.339000	0.08088	ATC	MYO9B	-	NULL		0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	C			17312782	+1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	G
NFIC	4782	genome.wustl.edu	37	19	3453781	3453781	+	Silent	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:3453781C>G	ENST00000443272.2	+	9	1341	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000589123.1_Silent_p.L421L|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000341919.3_Intron	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	430					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGGTCAGCTCAAAATGCCCA	0.677																																																	0													37.0	46.0	43.0					19																	3453781		2017	4164	6181	SO:0001819	synonymous_variant	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1290C>G	19.37:g.3453781C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L430	ENST00000443272.2	37	c.1290	CCDS59330.1	19																																																																																			NFIC	-	pfam_CTF/NFI		0.677	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3453781	+1	no_errors	ENST00000443272	ensembl	human	known	70_37	silent	SNP	1.000	G
NPAS1	4861	genome.wustl.edu	37	19	47548507	47548507	+	Silent	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:47548507G>A	ENST00000602212.1	+	12	1591	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	NPAS1_ENST00000602189.1_Silent_p.Q282Q|NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000449844.2_Silent_p.Q457Q			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	457					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AGGCCCCCCAGACCCAGGGCA	0.672																																																	0													39.0	44.0	42.0					19																	47548507		2200	4300	6500	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1371G>A	19.37:g.47548507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.Q457	ENST00000602212.1	37	c.1371	CCDS12694.1	19																																																																																			NPAS1	-	NULL		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	G	NM_002517		47548507	+1	no_errors	ENST00000449844	ensembl	human	known	70_37	silent	SNP	0.511	A
MZF1	7593	genome.wustl.edu	37	19	59081860	59081860	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:59081860G>A	ENST00000215057.2	-	3	991	c.431C>T	c.(430-432)tCa>tTa	p.S144L	AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.S144L|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.S144L|MZF1_ENST00000594108.1_Missense_Mutation_p.S144L	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CATCTTCTCTGATAGGACCTC	0.592																																																	0													76.0	66.0	70.0					19																	59081860		2203	4300	6503	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.431C>T	19.37:g.59081860G>A	ENSP00000215057:p.Ser144Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S144L	ENST00000215057.2	37	c.431	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	21.5	4.158853	0.78226	.	.	ENSG00000099326	ENST00000215057	T	0.07444	3.19	4.99	3.95	0.45737	Transcription regulator SCAN (1);	0.264416	0.20238	N	0.096350	T	0.03783	0.0107	N	0.08118	0	0.33343	D	0.570076	P;B	0.43094	0.799;0.027	B;B	0.36845	0.234;0.012	T	0.40997	-0.9533	9	.	.	.	-9.1748	9.0841	0.36570	0.0989:0.0:0.9011:0.0	.	144;144	Q7Z729;P28698	.;MZF1_HUMAN	L	144	ENSP00000215057:S144L	.	S	-	2	0	MZF1	63773672	0.000000	0.05858	0.968000	0.41197	0.997000	0.91878	0.569000	0.23638	1.462000	0.47948	0.655000	0.94253	TCA	MZF1	-	smart_Tscrpt_reg_SCAN		0.592	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	G	NM_198055		59081860	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.949	A
OR1B1	347169	genome.wustl.edu	37	9	125391128	125391128	+	Silent	SNP	G	G	A	rs138177065	byFrequency	TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:125391128G>A	ENST00000304833.3	-	1	724	c.687C>T	c.(685-687)gcC>gcT	p.A229A	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTAGAATAGCGGCCCCAATTC	0.532																																																	0										2,4404	4.2+/-10.8	0,2,2201	69.0	68.0	68.0		687	1.8	0.3	9	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	OR1B1	NM_001004450.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		229/319	125391128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.687C>T	9.37:g.125391128G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFN3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A229	ENST00000304833.3	37	c.687	CCDS35126.1	9																																																																																			OR1B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2	G	NM_001004450		125391128	-1	no_errors	ENST00000304833	ensembl	human	novel	70_37	silent	SNP	0.001	A
OR8H2	390151	genome.wustl.edu	37	11	55872653	55872653	+	Silent	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:55872653G>A	ENST00000313503.1	+	1	135	c.135G>A	c.(133-135)ggG>ggA	p.G45G		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGAATGTGGGGATGATATTGA	0.423										HNSCC(53;0.14)																																							0													303.0	270.0	281.0					11																	55872653		2201	4296	6497	SO:0001819	synonymous_variant	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.135G>A	11.37:g.55872653G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFC1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G45	ENST00000313503.1	37	c.135	CCDS31518.1	11																																																																																			OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	G	NM_001005200		55872653	+1	no_errors	ENST00000313503	ensembl	human	known	70_37	silent	SNP	0.434	A
PNPLA8	50640	genome.wustl.edu	37	7	108142958	108142958	+	Silent	SNP	G	G	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:108142958G>T	ENST00000422087.1	-	6	1741	c.1335C>A	c.(1333-1335)ctC>ctA	p.L445L	PNPLA8_ENST00000257694.8_Silent_p.L445L|PNPLA8_ENST00000426128.2_Silent_p.L445L|PNPLA8_ENST00000388728.5_Silent_p.L445L|PNPLA8_ENST00000453144.1_Silent_p.L345L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Silent_p.L445L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	445	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CATCAATTGAGAGAATTCGGA	0.393																																																	0													118.0	116.0	117.0					7																	108142958		2203	4300	6503	SO:0001819	synonymous_variant	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1335C>A	7.37:g.108142958G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.L445	ENST00000422087.1	37	c.1335	CCDS34733.1	7																																																																																			PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.393	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108142958	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	silent	SNP	0.807	T
URAD	646625	genome.wustl.edu	37	13	28562708	28562708	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr13:28562708C>G	ENST00000332715.5	-	1	83	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	23					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										GGACATCTCTCAGTGGCATTC	0.483																																																	0													107.0	110.0	109.0					13																	28562708		2075	4209	6284	SO:0001583	missense	646625				CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.67G>C	13.37:g.28562708C>G	ENSP00000333490:p.Glu23Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	p.E23Q	ENST00000332715.5	37	c.67	CCDS45020.1	13	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870356	0.51588	.	.	ENSG00000183463	ENST00000332715	T	0.57107	0.42	5.29	5.29	0.74685	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.92923	3.36	0.25041	N	0.991206	D	0.89917	1.0	D	0.97110	1.0	T	0.74210	-0.3739	10	0.59425	D	0.04	-5.3947	14.4693	0.67504	0.0:1.0:0.0:0.0	.	23	A6NGE7	URAD_HUMAN	Q	23	ENSP00000333490:E23Q	ENSP00000333490:E23Q	E	-	1	0	PRHOXNB	27460708	0.991000	0.36638	0.081000	0.20488	0.341000	0.28922	3.228000	0.51270	2.473000	0.83533	0.655000	0.94253	GAG	PRHOXNB	-	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1		0.483	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRHOXNB	HGNC	protein_coding	OTTHUMT00000472432.1	C			28562708	-1	no_errors	ENST00000332715	ensembl	human	known	70_37	missense	SNP	0.380	G
PRKDC	5591	genome.wustl.edu	37	8	48855777	48855777	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:48855777G>C	ENST00000314191.2	-	10	1014	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L320V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	320					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCTGTTTCAGAAAGGATTCC	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													90.0	87.0	88.0					8																	48855777		1847	4095	5942	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.958C>G	8.37:g.48855777G>C	ENSP00000313420:p.Leu320Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L320V	ENST00000314191.2	37	c.958		8	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601049	0.66332	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68479	-0.19;-0.33	5.35	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.75554	0.3865	.	.	.	0.80722	D	1	D;P;P	0.54397	0.966;0.943;0.77	P;P;B	0.56216	0.794;0.622;0.333	T	0.77003	-0.2749	9	0.72032	D	0.01	.	11.5343	0.50628	0.1446:0.0:0.8554:0.0	.	320;320;320	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	320	ENSP00000313420:L320V;ENSP00000345182:L320V	ENSP00000313420:L320V	L	-	1	2	PRKDC	49018330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.450000	0.60041	0.654000	0.30846	-0.136000	0.14681	CTG	PRKDC	-	superfamily_ARM-type_fold		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48855777	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRX2	51450	genome.wustl.edu	37	9	132482886	132482886	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr9:132482886G>C	ENST00000372469.4	+	3	686	c.459G>C	c.(457-459)caG>caC	p.Q153H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	153					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				TCTGGTTTCAGAACCGCCGCG	0.652																																																	0													55.0	62.0	59.0					9																	132482886		2203	4300	6503	SO:0001583	missense	51450			AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.459G>C	9.37:g.132482886G>C	ENSP00000361547:p.Gln153His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZB5|Q9UIB3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.Q153H	ENST00000372469.4	37	c.459	CCDS6926.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682164|3.682164	0.68042|0.68042	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000372469|ENST00000557730	D|.	0.97688|.	-4.49|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.198038|.	0.44483|.	D|.	0.000460|.	D|D	0.89146|0.89146	0.6632|0.6632	H|H	0.99697|0.99697	4.71|4.71	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	D|.	0.83275|.	0.996|.	D|D	0.91963|0.91963	0.5580|0.5580	10|5	0.87932|.	D|.	0|.	.|.	11.0892|11.0892	0.48106|0.48106	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	153|.	Q99811|.	PRRX2_HUMAN|.	H|T	153|68	ENSP00000361547:Q153H|.	ENSP00000361547:Q153H|.	Q|R	+|+	3|2	2|0	PRRX2|PRRX2	131522707|131522707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.587000|3.587000	0.53957|0.53957	2.709000|2.709000	0.92574|0.92574	0.561000|0.561000	0.74099|0.74099	CAG|AGA	PRRX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.652	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX2	HGNC	protein_coding	OTTHUMT00000054598.2	G	NM_016307		132482886	+1	no_errors	ENST00000372469	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRF	5792	genome.wustl.edu	37	1	44086197	44086197	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:44086197G>C	ENST00000359947.4	+	31	5651	c.5311G>C	c.(5311-5313)Gag>Cag	p.E1771Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.E1130Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1771Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1762Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1762Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1771	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCGATGGCTGAGTACAACAT	0.567																																																	0													189.0	156.0	167.0					1																	44086197		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5311G>C	1.37:g.44086197G>C	ENSP00000353030:p.Glu1771Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1771Q	ENST00000359947.4	37	c.5311	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.386133|4.386133	0.82902|0.82902	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34700|.	N|.	0.003760|.	T|.	0.74129|.	0.3676|.	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;P;P;D;D|.	0.89917|.	0.683;0.661;0.686;0.993;1.0|.	B;B;B;D;D|.	0.85130|.	0.219;0.339;0.337;0.947;0.997|.	T|.	0.71401|.	-0.4604|.	10|.	0.56958|.	D|.	0.05|.	.|.	19.6545|19.6545	0.95831|0.95831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1416;1130;1348;1762;1771|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	Q|S	1771;1762;1771;1762;1130;843|1154;1195	ENSP00000353030:E1771Q;ENSP00000398822:E1762Q;ENSP00000361491:E1771Q;ENSP00000361490:E1762Q;ENSP00000387885:E1130Q;ENSP00000361484:E843Q|.	ENSP00000353030:E1771Q|.	E|X	+|+	1|2	0|2	PTPRF|PTPRF	43858784|43858784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.807000|9.807000	0.99171|0.99171	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|TGA	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44086197	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	C
RBMS1	5937	genome.wustl.edu	37	2	161143497	161143497	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:161143497C>G	ENST00000348849.3	-	7	1169	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.E214Q|RBMS1_ENST00000409972.1_Missense_Mutation_p.E214Q|RBMS1_ENST00000392753.3_Missense_Mutation_p.E247Q|RBMS1_ENST00000409075.1_Missense_Mutation_p.E214Q	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	247					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ACCTCTCCTTCTCTATGCCAT	0.453																																																	0													255.0	249.0	251.0					2																	161143497		2203	4300	6503	SO:0001583	missense	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.739G>C	2.37:g.161143497C>G	ENSP00000294904:p.Glu247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.E247Q	ENST00000348849.3	37	c.739	CCDS2213.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078457	0.76528	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.78	5.78	0.91487	.	0.096640	0.64402	D	0.000001	T	0.77391	0.4123	L	0.58101	1.795	0.58432	D	0.999996	B;P;P;B;P;B	0.44816	0.07;0.563;0.844;0.145;0.563;0.02	B;P;B;B;B;B	0.45794	0.16;0.493;0.445;0.224;0.317;0.102	T	0.76016	-0.3113	10	0.39692	T	0.17	.	20.0065	0.97435	0.0:1.0:0.0:0.0	.	113;247;247;113;214;247	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	Q	247;214;214;247;214	ENSP00000294904:E247Q;ENSP00000386347:E214Q;ENSP00000386571:E214Q;ENSP00000376508:E247Q;ENSP00000387280:E214Q	ENSP00000294904:E247Q	E	-	1	0	RBMS1	160851743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.713000	0.92767	0.655000	0.94253	GAA	RBMS1	-	NULL		0.453	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	C	NM_016836		161143497	-1	no_errors	ENST00000392753	ensembl	human	known	70_37	missense	SNP	1.000	G
RAPGEF4	11069	genome.wustl.edu	37	2	173832141	173832141	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:173832141G>A	ENST00000397081.3	+	10	1116	c.973G>A	c.(973-975)Gac>Aac	p.D325N	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D172N|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D154N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D172N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D325N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D105N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D181N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D324N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	325					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GATGGGCCCCGACGCCCACAT	0.582																																																	0													56.0	59.0	58.0					2																	173832141		2077	4219	6296	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.973G>A	2.37:g.173832141G>A	ENSP00000380271:p.Asp325Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D325N	ENST00000397081.3	37	c.973	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.472373	0.96274	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.978;0.997;0.994;0.971;0.996	T	0.51036	-0.8756	10	0.72032	D	0.01	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	152;154;181;325;325	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	N	324;325;325;181;154;172;172;152;105	ENSP00000264111:D324N;ENSP00000380271:D325N;ENSP00000387104:D325N;ENSP00000380276:D181N;ENSP00000440135:D154N;ENSP00000440250:D172N;ENSP00000437384:D172N;ENSP00000438011:D105N	ENSP00000264111:D324N	D	+	1	0	RAPGEF4	173540387	1.000000	0.71417	0.778000	0.31720	0.754000	0.42855	9.822000	0.99363	2.478000	0.83669	0.561000	0.74099	GAC	RAPGEF4	-	NULL		0.582	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173832141	+1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL3	6122	genome.wustl.edu	37	22	39709277	39709277	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:39709277C>G	ENST00000216146.4	-	9	1259	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N	SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.K310N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	362					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TAAGGTCAATCTTCTCCAGAG	0.547																																																	0													32.0	31.0	31.0					22																	39709277		2203	4298	6501	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1086G>C	22.37:g.39709277C>G	ENSP00000346001:p.Lys362Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.K362N	ENST00000216146.4	37	c.1086	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693287	0.48202	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.43294	0.95;0.95	5.22	4.2	0.49525	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.61387	1.9	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.007;0.002;0.003	T	0.27971	-1.0058	10	0.35671	T	0.21	.	13.7456	0.62872	0.0:0.9253:0.0:0.0747	.	310;362;313	G5E9G0;P39023;B3KS36	.;RL3_HUMAN;.	N	310;362	ENSP00000386101:K310N;ENSP00000346001:K362N	ENSP00000346001:K362N	K	-	3	2	RPL3	38039223	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.025000	0.57225	1.217000	0.43442	-0.379000	0.06801	AAG	RPL3	-	superfamily_Transl_elong_init/rib_B-barrel		0.547	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	C	NM_000967		39709277	-1	no_errors	ENST00000216146	ensembl	human	known	70_37	missense	SNP	1.000	G
RUNX3	864	genome.wustl.edu	37	1	25228968	25228968	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:25228968G>A	ENST00000308873.6	-	5	901	c.893C>T	c.(892-894)cCg>cTg	p.P298L	RUNX3_ENST00000540420.1_Missense_Mutation_p.P205L|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000399916.1_Missense_Mutation_p.P312L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P312L	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	298	Pro/Ser/Thr-rich.			MP -> IS (in Ref. 2; CAA56093). {ECO:0000305}.	axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCTGGTGGCCGGCATGCCCGC	0.701																																																	0													20.0	30.0	26.0					1																	25228968		2183	4259	6442	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.893C>T	1.37:g.25228968G>A	ENSP00000308051:p.Pro298Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N	p.P312L	ENST00000308873.6	37	c.935	CCDS257.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399712	0.83120	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.96830	-4.14;-4.13;-4.14;-3.77	4.1	3.15	0.36227	.	0.252085	0.31624	N	0.007337	D	0.94951	0.8367	M	0.68952	2.095	0.80722	D	1	B;D;P	0.56746	0.287;0.977;0.727	B;P;B	0.44772	0.048;0.46;0.129	D	0.93152	0.6550	10	0.34782	T	0.22	-13.7521	13.2626	0.60113	0.0:0.0:0.8399:0.1601	.	245;312;298	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	L	312;298;312;205;245	ENSP00000382800:P312L;ENSP00000308051:P298L;ENSP00000343477:P312L;ENSP00000444872:P205L	ENSP00000308051:P298L	P	-	2	0	RUNX3	25101555	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.203000	0.77864	1.050000	0.40346	0.456000	0.33151	CCG	RUNX3	-	pirsf_TF_Runt-rel_RUNX		0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	HGNC	protein_coding	OTTHUMT00000009284.1	G	NM_004350		25228968	-1	no_errors	ENST00000338888	ensembl	human	known	70_37	missense	SNP	1.000	A
SCG5	6447	genome.wustl.edu	37	15	32972022	32972022	+	Silent	SNP	C	C	T	rs529878476		TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:32972022C>T	ENST00000300175.4	+	3	392	c.282C>T	c.(280-282)atC>atT	p.I94I	SCG5_ENST00000494364.1_Silent_p.I94I|SCG5_ENST00000413748.2_Silent_p.I94I|SCG5_ENST00000497208.1_Silent_p.I94I|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	94					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TCCCCAACATCGTGGCAGAGT	0.473																																																	0													175.0	174.0	174.0					15																	32972022		1937	4131	6068	SO:0001819	synonymous_variant	6447			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.282C>T	15.37:g.32972022C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P01164|Q6FHD0|Q9BS38	Silent	SNP	pfam_Secretogranin_V	p.I94	ENST00000300175.4	37	c.282	CCDS45207.1	15																																																																																			SCG5	-	pfam_Secretogranin_V		0.473	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	C	NM_003020		32972022	+1	no_errors	ENST00000300175	ensembl	human	known	70_37	silent	SNP	0.120	T
SEC24B	10427	genome.wustl.edu	37	4	110427532	110427532	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:110427532C>T	ENST00000265175.5	+	7	1592	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	SEC24B_ENST00000504968.2_Missense_Mutation_p.L543F|SEC24B_ENST00000399100.2_Missense_Mutation_p.L478F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	513					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGGATTGAGTCTTCAGAGTTC	0.388																																																	0													112.0	106.0	108.0					4																	110427532		1887	4117	6004	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1537C>T	4.37:g.110427532C>T	ENSP00000265175:p.Leu513Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.L513F	ENST00000265175.5	37	c.1537	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966398	0.74131	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22743	1.94;1.94;1.94	5.67	5.67	0.87782	.	0.128197	0.52532	D	0.000067	T	0.35941	0.0949	L	0.46670	1.46	0.45502	D	0.998462	D;P;D;P;D	0.52996	0.957;0.628;0.957;0.948;0.957	P;P;P;P;P	0.59546	0.729;0.568;0.786;0.859;0.786	T	0.00975	-1.1494	10	0.41790	T	0.15	-21.5589	15.39	0.74735	0.1398:0.8602:0.0:0.0	.	427;112;543;478;513	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	F	543;478;513	ENSP00000428564:L543F;ENSP00000382051:L478F;ENSP00000265175:L513F	ENSP00000265175:L513F	L	+	1	0	SEC24B	110646981	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.168000	0.42424	2.658000	0.90341	0.591000	0.81541	CTT	SEC24B	-	NULL		0.388	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	C			110427532	+1	no_errors	ENST00000265175	ensembl	human	known	70_37	missense	SNP	0.994	T
SHISA6	388336	genome.wustl.edu	37	17	11166735	11166735	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:11166735G>A	ENST00000409168.3	+	2	691	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SHISA6_ENST00000432116.3_Missense_Mutation_p.E231K|SHISA6_ENST00000441885.3_Missense_Mutation_p.E231K	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	231						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						AGCACACTGTGAAAGAGAAAC	0.498																																																	0													177.0	139.0	151.0					17																	11166735		692	1591	2283	SO:0001583	missense	388336			AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.691G>A	17.37:g.11166735G>A	ENSP00000387157:p.Glu231Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXV5|Q4PL63	Missense_Mutation	SNP	NULL	p.E231K	ENST00000409168.3	37	c.691	CCDS54090.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.790589	0.96945	.	.	ENSG00000188803	ENST00000441885;ENST00000432116;ENST00000409168;ENST00000343478	.	.	.	5.86	5.86	0.93980	.	0.059238	0.64402	D	0.000002	T	0.75803	0.3899	M	0.64404	1.975	0.47698	D	0.999497	D;D	0.64830	0.993;0.994	P;P	0.62298	0.879;0.9	T	0.75297	-0.3367	9	0.56958	D	0.05	.	18.0523	0.89353	0.0:0.0:1.0:0.0	.	231;231	Q6ZSJ9-3;Q6ZSJ9	.;SHSA6_HUMAN	K	231;231;231;129	.	ENSP00000340821:E129K	E	+	1	0	SHISA6	11107460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.937000	0.99478	0.650000	0.86243	GAA	SHISA6	-	NULL		0.498	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHISA6	HGNC	protein_coding	OTTHUMT00000333970.2	G	NM_207386		11166735	+1	no_errors	ENST00000441885	ensembl	human	known	70_37	missense	SNP	1.000	A
SI	6476	genome.wustl.edu	37	3	164709259	164709259	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:164709259C>G	ENST00000264382.3	-	44	5052	c.4990G>C	c.(4990-4992)Gat>Cat	p.D1664H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1664	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D1664Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACGCCAATATCTTTGCCCTGG	0.398										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											92.0	83.0	86.0					3																	164709259		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4990G>C	3.37:g.164709259C>G	ENSP00000264382:p.Asp1664His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D1664H	ENST00000264382.3	37	c.4990	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936809	0.34189	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	4.78	4.78	0.61160	.	0.299086	0.36167	N	0.002752	D	0.87402	0.6168	L	0.41906	1.305	0.37671	D	0.923135	B	0.32160	0.358	B	0.36464	0.225	D	0.88689	0.3207	10	0.54805	T	0.06	.	13.3059	0.60352	0.0:0.7302:0.2698:0.0	.	1664	P14410	SUIS_HUMAN	H	1664	ENSP00000264382:D1664H	ENSP00000264382:D1664H	D	-	1	0	SI	166191953	0.454000	0.25728	0.336000	0.25522	0.017000	0.09413	1.003000	0.29809	2.476000	0.83614	0.467000	0.42956	GAT	SI	-	pfam_Glyco_hydro_31		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164709259	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.827	G
SLITRK5	26050	genome.wustl.edu	37	13	88329623	88329623	+	Silent	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr13:88329623G>A	ENST00000325089.6	+	2	2199	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	SLITRK5_ENST00000400028.3_Silent_p.S419S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	660					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642																																																	0													111.0	112.0	111.0					13																	88329623		2203	4300	6503	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1980G>A	13.37:g.88329623G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S660	ENST00000325089.6	37	c.1980	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.642	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88329623	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.200	A
SNAP91	9892	genome.wustl.edu	37	6	84304150	84304150	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:84304150C>T	ENST00000439399.2	-	17	1691	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	SNAP91_ENST00000521485.1_Missense_Mutation_p.A459T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A459T|SNAP91_ENST00000521743.1_Missense_Mutation_p.A459T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A459T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A457T|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.A459T|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	459	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTGGTGCGGCGGCCCCTTCG	0.493																																																	0																																										SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1375G>A	6.37:g.84304150C>T	ENSP00000400459:p.Ala459Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A459T	ENST00000439399.2	37	c.1375	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584130	0.46110	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743	T;T;T;T;T;T;T	0.15952	2.41;2.38;2.38;2.41;2.39;2.42;2.38	5.75	1.39	0.22231	.	0.227975	0.43747	N	0.000528	T	0.05731	0.0150	L	0.60455	1.87	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.001;0.002	T	0.24657	-1.0154	10	0.15952	T	0.53	-0.6409	9.5044	0.39037	0.0:0.6749:0.0:0.3251	.	457;459;457	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	T	459;459;459;459;459;457;459	ENSP00000429776:A459T;ENSP00000358708:A459T;ENSP00000400459:A459T;ENSP00000195649:A459T;ENSP00000412492:A459T;ENSP00000428511:A457T;ENSP00000428215:A459T	ENSP00000195649:A459T	A	-	1	0	SNAP91	84360869	0.998000	0.40836	0.992000	0.48379	0.664000	0.39144	0.539000	0.23175	-0.036000	0.13669	0.561000	0.74099	GCC	SNAP91	-	NULL		0.493	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84304150	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	T
SPA17	53340	genome.wustl.edu	37	11	124564303	124564306	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	AAAT	AAAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:124564303_124564306delAAAT	ENST00000532692.1	+	4	1838_1841	c.417_420delAAAT	c.(415-420)acaaatfs	p.TN139fs	SPA17_ENST00000227135.2_Frame_Shift_Del_p.TN139fs|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	139	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAATGAAAACAAATAGTCTTCAAA	0.392																																																	0																																										SO:0001589	frameshift_variant	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.417_420delAAAT	11.37:g.124564303_124564306delAAAT	ENSP00000432305:p.Thr139fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4F2|Q9BXF7	Frame_Shift_Del	DEL	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.N140fs	ENST00000532692.1	37	c.417_420	CCDS8450.1	11																																																																																			SPA17	-	pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS		0.392	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	AAAT	NM_017425		124564306	+1	no_errors	ENST00000227135	ensembl	human	putative	70_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-
SPAG16	79582	genome.wustl.edu	37	2	214354699	214354699	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr2:214354699C>T	ENST00000331683.5	+	10	1050	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P225S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	319					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P319S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCAGAATTTCCCATAGATAT	0.308																																																	1	Substitution - Missense(1)	skin(1)											55.0	64.0	61.0					2																	214354699		2195	4298	6493	SO:0001583	missense	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.955C>T	2.37:g.214354699C>T	ENSP00000332592:p.Pro319Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P319S	ENST00000331683.5	37	c.955	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507076	0.44558	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.61859	0.36;0.25;0.07	5.93	5.93	0.95920	.	0.147407	0.43260	D	0.000581	T	0.61388	0.2343	L	0.29908	0.895	0.41997	D	0.990871	D;D;D;D	0.89917	1.0;1.0;0.989;1.0	D;D;P;D	0.81914	0.994;0.995;0.804;0.994	T	0.52946	-0.8507	10	0.05833	T	0.94	.	15.8397	0.78835	0.0:1.0:0.0:0.0	.	225;170;259;319	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	S	319;225;5	ENSP00000332592:P319S;ENSP00000363428:P225S;ENSP00000416600:P5S	ENSP00000332592:P319S	P	+	1	0	SPAG16	214062944	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	3.813000	0.55636	2.812000	0.96745	0.555000	0.69702	CCC	SPAG16	-	NULL		0.308	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	C	NM_024532		214354699	+1	no_errors	ENST00000331683	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42147508	42147508	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:42147508C>T	ENST00000320955.6	-	55	9564	c.9337G>A	c.(9337-9339)Gag>Aag	p.E3113K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3113					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCAGGGTCTCTCGCTCCAGC	0.692																																																	0													22.0	27.0	25.0					15																	42147508		2048	4179	6227	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9337G>A	15.37:g.42147508C>T	ENSP00000317790:p.Glu3113Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E3113K	ENST00000320955.6	37	c.9337		15	.	.	.	.	.	.	.	.	.	.	.	17.29	3.352836	0.61293	.	.	ENSG00000137877	ENST00000320955	T	0.50001	0.76	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.74222	0.3688	M	0.86420	2.815	0.33346	D	0.570442	D	0.89917	1.0	D	0.83275	0.996	T	0.83111	-0.0123	10	0.62326	D	0.03	.	18.9028	0.92449	0.0:1.0:0.0:0.0	.	3113	Q9NRC6	SPTN5_HUMAN	K	3113	ENSP00000317790:E3113K	ENSP00000317790:E3113K	E	-	1	0	SPTBN5	39934800	0.998000	0.40836	0.451000	0.26982	0.043000	0.13939	4.863000	0.62983	2.447000	0.82792	0.655000	0.94253	GAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.692	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42147508	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.866	T
SQLE	6713	genome.wustl.edu	37	8	126011819	126011819	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:126011819G>C	ENST00000265896.5	+	1	1072	c.174G>C	c.(172-174)caG>caC	p.Q58H	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	58				Q -> R (in Ref. 1; BAA22372). {ECO:0000305}.	cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGCGCCAGCAGAGCGGCTCCC	0.607																																																	0													39.0	42.0	41.0					8																	126011819		1909	4114	6023	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.174G>C	8.37:g.126011819G>C	ENSP00000265896:p.Gln58His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.Q58H	ENST00000265896.5	37	c.174	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109542	0.20714	.	.	ENSG00000104549	ENST00000265896	.	.	.	4.96	0.917	0.19380	.	0.529435	0.19010	N	0.125095	T	0.32041	0.0816	L	0.56769	1.78	0.24406	N	0.994689	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	9	0.35671	T	0.21	0.1809	4.0345	0.09724	0.1458:0.1264:0.5973:0.1305	.	58	Q14534	ERG1_HUMAN	H	58	.	ENSP00000265896:Q58H	Q	+	3	2	SQLE	126081000	0.737000	0.28175	0.170000	0.22879	0.297000	0.27493	0.722000	0.25925	0.117000	0.18138	0.561000	0.74099	CAG	SQLE	-	NULL		0.607	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	G	NM_003129		126011819	+1	no_errors	ENST00000265896	ensembl	human	known	70_37	missense	SNP	0.875	C
STARD9	57519	genome.wustl.edu	37	15	42982596	42982596	+	Silent	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:42982596C>G	ENST00000290607.7	+	23	8877	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2940					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GCAGGACTCTCAGCCCGTCTA	0.527																																																	0													39.0	40.0	40.0					15																	42982596		692	1590	2282	SO:0001819	synonymous_variant	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.8820C>G	15.37:g.42982596C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L2940	ENST00000290607.7	37	c.8820	CCDS53935.1	15																																																																																			STARD9	-	NULL		0.527	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	C			42982596	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	silent	SNP	0.000	G
TAS2R42	353164	genome.wustl.edu	37	12	11339326	11339326	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:11339326G>A	ENST00000334266.1	-	1	217	c.218C>T	c.(217-219)tCa>tTa	p.S73L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	73					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ATATAAATGTGAAGCAAGTCC	0.413																																					Melanoma(15;352 722 10077 19546 48810)												0													138.0	128.0	131.0					12																	11339326		2203	4300	6503	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.218C>T	12.37:g.11339326G>A	ENSP00000334050:p.Ser73Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRP4|Q645X0	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S73L	ENST00000334266.1	37	c.218	CCDS31747.1	12	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112979	0.20795	.	.	ENSG00000186136	ENST00000334266	T	0.37411	1.2	3.32	-0.823	0.10815	GPCR, rhodopsin-like superfamily (1);	1.529920	0.04348	U	0.355235	T	0.19208	0.0461	N	0.11313	0.125	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.25676	-1.0125	10	0.62326	D	0.03	.	2.6614	0.05028	0.3795:0.0:0.409:0.2115	.	73	Q7RTR8	T2R42_HUMAN	L	73	ENSP00000334050:S73L	ENSP00000334050:S73L	S	-	2	0	TAS2R42	11230593	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.170000	0.09897	-0.046000	0.13446	-0.182000	0.12963	TCA	TAS2R42	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.413	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R42	HGNC	protein_coding	OTTHUMT00000400243.1	G	NM_181429		11339326	-1	no_errors	ENST00000334266	ensembl	human	known	70_37	missense	SNP	0.000	A
TBC1D10A	83874	genome.wustl.edu	37	22	30688730	30688730	+	Silent	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr22:30688730C>T	ENST00000215790.7	-	9	1325	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.L394L|TBC1D10A_ENST00000403362.1_Silent_p.L299L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	387					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGCACCATGCAGCCTGGGCG	0.662																																																	0													32.0	37.0	35.0					22																	30688730		2203	4300	6503	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1161G>A	22.37:g.30688730C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L387	ENST00000215790.7	37	c.1161	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.662	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	C	NM_031937		30688730	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM134	80194	genome.wustl.edu	37	11	67232007	67232007	+	3'UTR	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:67232007C>T	ENST00000308022.2	-	0	707				TMEM134_ENST00000541059.1_5'UTR|CTC-1337H24.2_ENST00000602944.1_lincRNA|TMEM134_ENST00000393877.3_3'UTR	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134							integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TGGAGGGCCTCTTCCCTTGAG	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	80194			AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.*78G>A	11.37:g.67232007C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AK4|Q6PJN3	RNA	SNP	-	NULL	ENST00000308022.2	37	NULL	CCDS8167.1	11																																																																																			TMEM134	-	-		0.667	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1	C	NM_025124		67232007	-1	no_errors	ENST00000535813	ensembl	human	known	70_37	rna	SNP	0.001	T
TP53INP1	94241	genome.wustl.edu	37	8	95952425	95952425	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr8:95952425C>T	ENST00000342697.4	-	3	543	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TP53INP1_ENST00000378776.4_Missense_Mutation_p.E46K|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.E46K	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	46	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TCTTCTTCTTCTGCTGAGAAA	0.468																																																	0													99.0	107.0	104.0					8																	95952425		2202	4300	6502	SO:0001583	missense	94241			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.136G>A	8.37:g.95952425C>T	ENSP00000344215:p.Glu46Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCE5|Q969R9	Missense_Mutation	SNP	NULL	p.E46K	ENST00000342697.4	37	c.136	CCDS6265.1	8	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254790	0.59212	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.45668	0.89;0.89;0.89	5.65	5.65	0.86999	.	0.403267	0.28268	N	0.015961	T	0.30634	0.0771	L	0.29908	0.895	0.37059	D	0.897982	B;B	0.30361	0.277;0.096	B;B	0.23852	0.049;0.049	T	0.16541	-1.0399	10	0.10902	T	0.67	-34.8654	18.0832	0.89449	0.0:1.0:0.0:0.0	.	46;46	Q96A56-2;Q96A56	.;T53I1_HUMAN	K	46	ENSP00000390063:E46K;ENSP00000344215:E46K;ENSP00000368052:E46K	ENSP00000344215:E46K	E	-	1	0	TP53INP1	96021601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.882000	0.63121	2.941000	0.99782	0.655000	0.94253	GAA	TP53INP1	-	NULL		0.468	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	HGNC	protein_coding	OTTHUMT00000379818.1	C			95952425	-1	no_errors	ENST00000342697	ensembl	human	known	70_37	missense	SNP	1.000	T
TPM3	7170	genome.wustl.edu	37	1	154143796	154143796	+	Intron	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr1:154143796G>C	ENST00000368530.2	-	6	835				TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000368531.2_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CGCCTCACTGGATTATATATG	0.468			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0																																										SO:0001627	intron_variant	7170			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.642+92C>G	1.37:g.154143796G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			TPM3	-	-		0.468	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	G	NM_152263		154143796	-1	no_errors	ENST00000469717	ensembl	human	known	70_37	rna	SNP	0.000	C
TUBA1B	10376	genome.wustl.edu	37	12	49521749	49521749	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:49521749C>G	ENST00000336023.5	-	4	1442	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	450					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AATTAGTATTCCTCTCCTTCT	0.463																																																	0													133.0	136.0	135.0					12																	49521749		2203	4300	6503	SO:0001583	missense	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1348G>C	12.37:g.49521749C>G	ENSP00000336799:p.Glu450Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E450Q	ENST00000336023.5	37	c.1348	CCDS31792.1	12	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264516	0.23136	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	T	0.79554	-1.28	4.83	4.83	0.62350	.	0.000000	0.45606	U	0.000350	D	0.85371	0.5681	M	0.92412	3.305	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	D	0.85426	0.1146	10	0.87932	D	0	.	16.8456	0.85980	0.0:1.0:0.0:0.0	.	450	P68363	TBA1B_HUMAN	Q	450;181	ENSP00000336799:E450Q	ENSP00000336799:E450Q	E	-	1	0	TUBA1B	47808016	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.030000	0.49720	2.524000	0.85096	0.650000	0.86243	GAA	TUBA1B	-	NULL		0.463	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	C	NM_006082		49521749	-1	no_errors	ENST00000336023	ensembl	human	known	70_37	missense	SNP	1.000	G
TYR	7299	genome.wustl.edu	37	11	88911211	88911211	+	Silent	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr11:88911211G>C	ENST00000263321.5	+	1	592	c.90G>C	c.(88-90)ctG>ctC	p.L30L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	30					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTAAGAACCTGATGGAGAAGG	0.547																																																	0													78.0	76.0	77.0					11																	88911211		2201	4299	6500	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.90G>C	11.37:g.88911211G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L30	ENST00000263321.5	37	c.90	CCDS8284.1	11																																																																																			TYR	-	NULL		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		88911211	+1	no_errors	ENST00000263321	ensembl	human	known	70_37	silent	SNP	0.955	C
ULK2	9706	genome.wustl.edu	37	17	19685287	19685287	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr17:19685287C>G	ENST00000395544.4	-	23	3053	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q	ULK2_ENST00000361658.2_Missense_Mutation_p.E852Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	852	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTGCACAGCTCAGGGTTTCCT	0.567																																																	0													188.0	129.0	149.0					17																	19685287		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2554G>C	17.37:g.19685287C>G	ENSP00000378914:p.Glu852Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E852Q	ENST00000395544.4	37	c.2554	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122287	0.56613	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42513	0.97;0.97	5.46	5.46	0.80206	Serine/threonine-protein kinase, C-terminal (1);	0.208137	0.50627	D	0.000120	T	0.43986	0.1272	L	0.58101	1.795	0.34686	D	0.725207	B	0.16166	0.016	B	0.17722	0.019	T	0.51076	-0.8751	10	0.40728	T	0.16	-13.5316	18.2989	0.90157	0.0:1.0:0.0:0.0	.	852	Q8IYT8	ULK2_HUMAN	Q	852	ENSP00000354877:E852Q;ENSP00000378914:E852Q	ENSP00000354877:E852Q	E	-	1	0	ULK2	19625879	1.000000	0.71417	0.985000	0.45067	0.837000	0.47467	5.663000	0.68038	2.568000	0.86640	0.585000	0.79938	GAG	ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.567	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19685287	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	missense	SNP	0.998	G
VAC14	55697	genome.wustl.edu	37	16	70765414	70765414	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:70765414C>T	ENST00000261776.5	-	14	1905	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	549					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATGAAAGGGCCTCTGACCTCC	0.507																																																	0													118.0	122.0	121.0					16																	70765414		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1645G>A	16.37:g.70765414C>T	ENSP00000261776:p.Gly549Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.G549S	ENST00000261776.5	37	c.1645	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.669299	0.96754	.	.	ENSG00000103043	ENST00000261776	T	0.64260	-0.09	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.83275	0.996;0.896	T	0.78430	-0.2207	10	0.59425	D	0.04	-30.9819	19.9025	0.96993	0.0:1.0:0.0:0.0	.	479;549	B4DMP4;Q08AM6	.;VAC14_HUMAN	S	549	ENSP00000261776:G549S	ENSP00000261776:G549S	G	-	1	0	VAC14	69322915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.722000	0.93159	0.655000	0.94253	GGC	VAC14	-	pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold		0.507	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70765414	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82789643	82789643	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:82789643G>C	ENST00000265077.3	+	5	1206	c.641G>C	c.(640-642)aGa>aCa	p.R214T	VCAN_ENST00000502527.2_Missense_Mutation_p.R214T|VCAN_ENST00000512590.2_Missense_Mutation_p.R166T|VCAN_ENST00000342785.4_Missense_Mutation_p.R214T|VCAN_ENST00000513984.1_Missense_Mutation_p.R214T|VCAN_ENST00000343200.5_Missense_Mutation_p.R214T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	214	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGGGCTCCCAGAGTAGGCTGT	0.468																																																	0													125.0	122.0	123.0					5																	82789643		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.641G>C	5.37:g.82789643G>C	ENSP00000265077:p.Arg214Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.R214T	ENST00000265077.3	37	c.641	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958363	0.92726	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.87	5.87	0.94306	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.48286	D	0.000182	T	0.51856	0.1699	M	0.94063	3.49	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.997	T	0.62996	-0.6735	10	0.87932	D	0	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	214;214;214;214;214	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	T	214;214;214;166;214;214;214	ENSP00000265077:R214T;ENSP00000340062:R214T;ENSP00000342768:R214T;ENSP00000425959:R166T;ENSP00000426251:R214T;ENSP00000426715:R214T;ENSP00000421362:R214T	ENSP00000265077:R214T	R	+	2	0	VCAN	82825399	1.000000	0.71417	0.944000	0.38274	0.903000	0.53119	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	AGA	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82789643	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS29	51699	genome.wustl.edu	37	12	110930923	110930923	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr12:110930923C>G	ENST00000549578.1	-	3	374	c.309G>C	c.(307-309)caG>caC	p.Q103H	VPS29_ENST00000552130.2_Missense_Mutation_p.Q8H|VPS29_ENST00000549970.1_Missense_Mutation_p.Q8H|VPS29_ENST00000447578.2_Missense_Mutation_p.Q8H|VPS29_ENST00000360579.7_Missense_Mutation_p.Q107H|VPS29_ENST00000546588.1_Missense_Mutation_p.Q135H	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	103					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAAATTGCCTCTGCAACAGGG	0.418																																																	0													97.0	90.0	92.0					12																	110930923		1887	4135	6022	SO:0001583	missense	51699			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.309G>C	12.37:g.110930923C>G	ENSP00000447058:p.Gln103His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	tigrfam_Phosphodiesterase_MJ0936	p.Q107H	ENST00000549578.1	37	c.321	CCDS41832.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.728576|3.728576	0.69074|0.69074	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000360579|ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970	.|T;T;T;T;T	.|0.17370	.|2.28;2.31;2.31;2.28;2.31	6.03|6.03	4.0|4.0	0.46444|0.46444	.|Calcineurin-like phosphoesterase superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45256|0.45256	0.1333|0.1333	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;P	.|0.66196	.|0.942;0.903	T|T	0.54132|0.54132	-0.8339|-0.8339	5|10	.|0.52906	.|T	.|0.07	-18.0179|-18.0179	12.1385|12.1385	0.53984|0.53984	0.0:0.8216:0.0:0.1784|0.0:0.8216:0.0:0.1784	.|.	.|103;107	.|Q9UBQ0;Q9UBQ0-2	.|VPS29_HUMAN;.	Q|H	120|103;107;8;8;135;8	.|ENSP00000447058:Q103H;ENSP00000449954:Q8H;ENSP00000400048:Q8H;ENSP00000449044:Q135H;ENSP00000447634:Q8H	.|ENSP00000380795:Q107H	E|Q	-|-	1|3	0|2	VPS29|VPS29	109415306|109415306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.894000|0.894000	0.28350|0.28350	1.567000|1.567000	0.49668|0.49668	0.555000|0.555000	0.69702|0.69702	GAG|CAG	VPS29	-	tigrfam_Phosphodiesterase_MJ0936		0.418	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS29	HGNC	protein_coding	OTTHUMT00000404623.1	C			110930923	-1	no_errors	ENST00000397678	ensembl	human	known	70_37	missense	SNP	1.000	G
VPS33B	26276	genome.wustl.edu	37	15	91545319	91545319	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr15:91545319C>T	ENST00000333371.3	-	18	1719	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	VPS33B_ENST00000535906.1_Missense_Mutation_p.E429K|VPS33B_ENST00000535843.1_Missense_Mutation_p.E365K	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	456					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACTTTACTCTCCACGGCTGTG	0.587																																																	0													105.0	83.0	90.0					15																	91545319		2198	4298	6496	SO:0001583	missense	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1366G>A	15.37:g.91545319C>T	ENSP00000327650:p.Glu456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.E456K	ENST00000333371.3	37	c.1366	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975063	0.92919	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.57595	0.39;0.39;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	T	0.53373	-0.8448	10	0.05959	T	0.93	-10.7089	19.2714	0.94011	0.0:1.0:0.0:0.0	.	429;456	F5H008;Q9H267	.;VP33B_HUMAN	K	456;429;365;411	ENSP00000327650:E456K;ENSP00000444053:E429K;ENSP00000446267:E365K	ENSP00000327650:E456K	E	-	1	0	VPS33B	89346323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.644000	0.74338	2.884000	0.98904	0.655000	0.94253	GAG	VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like		0.587	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	C	NM_018668		91545319	-1	no_errors	ENST00000333371	ensembl	human	known	70_37	missense	SNP	1.000	T
VSTM2B	342865	genome.wustl.edu	37	19	30018176	30018176	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr19:30018176G>A	ENST00000335523.7	+	2	226	c.141G>A	c.(139-141)atG>atA	p.M47I	CTC-525D6.1_ENST00000582581.1_RNA|CTC-525D6.2_ENST00000579268.1_RNA	NM_001146339.1	NP_001139811.1	A6NLU5	VTM2B_HUMAN	V-set and transmembrane domain containing 2B	47	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)	2						ACATCGAAATGCCCTGCGCGT	0.622																																																	0													50.0	59.0	56.0					19																	30018176		692	1591	2283	SO:0001583	missense	342865				CCDS46034.1	19q12	2013-01-11			ENSG00000187135	ENSG00000187135		"""Immunoglobulin superfamily / V-set domain containing"""	33595	protein-coding gene	gene with protein product							Standard	NM_001146339		Approved		uc010xrl.1	A6NLU5		ENST00000335523.7:c.141G>A	19.37:g.30018176G>A	ENSP00000335038:p.Met47Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.M47I	ENST00000335523.7	37	c.141	CCDS46034.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151444	0.78001	.	.	ENSG00000187135	ENST00000335523	T	0.24723	1.84	4.59	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	M	0.66297	2.02	0.53688	D	0.999977	D	0.57571	0.98	P	0.55391	0.775	T	0.46624	-0.9178	10	0.72032	D	0.01	-14.862	16.639	0.85066	0.0:0.0:1.0:0.0	.	47	A6NLU5	VTM2B_HUMAN	I	47	ENSP00000335038:M47I	ENSP00000335038:M47I	M	+	3	0	VSTM2B	34710016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.614000	0.82996	2.393000	0.81446	0.543000	0.68304	ATG	VSTM2B	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.622	VSTM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2B	HGNC	protein_coding	OTTHUMT00000458601.1	G	NM_001146339		30018176	+1	no_errors	ENST00000335523	ensembl	human	known	70_37	missense	SNP	1.000	A
VWDE	221806	genome.wustl.edu	37	7	12419153	12419153	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr7:12419153G>C	ENST00000275358.3	-	6	1017	c.829C>G	c.(829-831)Cat>Gat	p.H277D		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	277						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CTTTGTACATGAGGATTCTCC	0.358																																																	0													97.0	82.0	87.0					7																	12419153		692	1591	2283	SO:0001583	missense	221806				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.829C>G	7.37:g.12419153G>C	ENSP00000275358:p.His277Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.H277D	ENST00000275358.3	37	c.829	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102840	0.01828	.	.	ENSG00000146530	ENST00000275358	T	0.81163	-1.46	4.61	2.57	0.30868	.	.	.	.	.	T	0.57829	0.2080	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	9	0.02654	T	1	.	10.6094	0.45412	0.0:0.6296:0.2572:0.1132	.	277	Q8N2E2	VWDE_HUMAN	D	277	ENSP00000275358:H277D	ENSP00000275358:H277D	H	-	1	0	VWDE	12385678	0.227000	0.23707	0.987000	0.45799	0.197000	0.23852	0.465000	0.22004	1.021000	0.39600	0.655000	0.94253	CAT	VWDE	-	NULL		0.358	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	G	XM_371878		12419153	-1	no_errors	ENST00000452576	ensembl	human	known	70_37	missense	SNP	0.361	C
CFAP43	80217	genome.wustl.edu	37	10	105906095	105906095	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr10:105906095C>T	ENST00000357060.3	-	30	3896	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGAACAGCTTCTGAAGTCTGG	0.408																																																	0													118.0	109.0	112.0					10																	105906095		2203	4300	6503	SO:0001583	missense	80217																														ENST00000357060.3:c.3781G>A	10.37:g.105906095C>T	ENSP00000349568:p.Glu1261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.E1261K	ENST00000357060.3	37	c.3781	CCDS31281.1	10	.	.	.	.	.	.	.	.	.	.	C	5.344	0.248781	0.10130	.	.	ENSG00000197748	ENST00000357060	T	0.17854	2.25	6.07	3.26	0.37387	.	0.631731	0.14811	N	0.297080	T	0.12475	0.0303	L	0.38838	1.175	0.27054	N	0.963712	B	0.30236	0.274	B	0.27887	0.084	T	0.26573	-1.0099	10	0.14656	T	0.56	.	10.3393	0.43868	0.0:0.7864:0.0:0.2136	.	1261	Q8NDM7	WDR96_HUMAN	K	1261	ENSP00000349568:E1261K	ENSP00000349568:E1261K	E	-	1	0	WDR96	105896085	0.031000	0.19500	0.033000	0.17914	0.179000	0.23085	0.188000	0.17018	0.459000	0.27016	0.655000	0.94253	GAA	WDR96	-	NULL		0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		C			105906095	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	0.090	T
WNT5A	7474	genome.wustl.edu	37	3	55504018	55504018	+	3'UTR	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:55504018G>A	ENST00000474267.1	-	0	1766				WNT5A_ENST00000493406.1_5'UTR|WNT5A_ENST00000264634.4_3'UTR			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GCAATTCTTGGGGAAAAATAA	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	7474			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.*102C>T	3.37:g.55504018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4A4|Q6P278	RNA	SNP	-	NULL	ENST00000474267.1	37	NULL	CCDS46850.1	3																																																																																			WNT5A	-	-		0.378	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	HGNC	protein_coding	OTTHUMT00000350793.3	G	NM_003392		55504018	-1	no_errors	ENST00000493406	ensembl	human	known	70_37	rna	SNP	0.538	A
WWC1	23286	genome.wustl.edu	37	5	167849048	167849048	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr5:167849048G>A	ENST00000265293.4	+	10	1722	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	WWC1_ENST00000521089.1_Missense_Mutation_p.R407K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	407					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGCTTGTGAGAGAACTGGAG	0.557																																																	0													83.0	86.0	85.0					5																	167849048		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1220G>A	5.37:g.167849048G>A	ENSP00000265293:p.Arg407Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R407K	ENST00000265293.4	37	c.1220	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895512	0.33442	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.39229	1.09;1.09	4.81	4.81	0.61882	.	0.118077	0.53938	D	0.000051	T	0.22742	0.0549	N	0.05330	-0.07	0.36472	D	0.867337	B;B;B;B	0.20671	0.003;0.047;0.047;0.007	B;B;B;B	0.22753	0.015;0.041;0.041;0.015	T	0.19976	-1.0289	10	0.22109	T	0.4	.	11.4164	0.49954	0.0831:0.0:0.9169:0.0	.	407;313;313;407	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	K	407	ENSP00000265293:R407K;ENSP00000427772:R407K	ENSP00000265293:R407K	R	+	2	0	WWC1	167781626	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	2.735000	0.47377	2.223000	0.72356	0.563000	0.77884	AGA	WWC1	-	NULL		0.557	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167849048	+1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	0.999	A
XPO6	23214	genome.wustl.edu	37	16	28187269	28187269	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr16:28187269G>A	ENST00000304658.5	-	4	855	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	XPO6_ENST00000565698.1_Missense_Mutation_p.R105C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	119					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAATCCTGACGTCCAATATCA	0.393																																																	0													88.0	81.0	83.0					16																	28187269		1873	4105	5978	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.355C>T	16.37:g.28187269G>A	ENSP00000302790:p.Arg119Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R119C	ENST00000304658.5	37	c.355	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427040	0.83667	.	.	ENSG00000169180	ENST00000304658	T	0.43688	0.94	5.42	5.42	0.78866	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.962;0.998	T	0.65936	-0.6047	10	0.87932	D	0	-8.5905	12.0682	0.53601	0.0:0.0:0.828:0.172	.	119;119	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	119	ENSP00000302790:R119C	ENSP00000302790:R119C	R	-	1	0	XPO6	28094770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.362000	0.66098	2.698000	0.92095	0.655000	0.94253	CGT	XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.393	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	G	XM_055195		28187269	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB11	27107	genome.wustl.edu	37	3	101383876	101383876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr3:101383876G>A	ENST00000312938.4	-	4	2135	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	519					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.R519*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGTGTAGTCGAATATATGCC	0.428																																																	1	Substitution - Nonsense(1)	lung(1)											182.0	172.0	176.0					3																	101383876		2203	4300	6503	SO:0001587	stop_gained	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1555C>T	3.37:g.101383876G>A	ENSP00000326200:p.Arg519*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKP9	Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R519*	ENST00000312938.4	37	c.1555	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.570352	0.98868	.	.	ENSG00000066422	ENST00000312938	.	.	.	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5201	14.3542	0.66724	0.0:0.0:0.6201:0.3799	.	.	.	.	X	519	.	ENSP00000326200:R519X	R	-	1	2	ZBTB11	102866566	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.353000	0.44089	1.547000	0.49401	-0.169000	0.13324	CGA	ZBTB11	-	NULL		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	G	NM_014415		101383876	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	nonsense	SNP	0.999	A
ZBTB22	9278	genome.wustl.edu	37	6	33283917	33283917	+	Silent	SNP	C	C	T			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr6:33283917C>T	ENST00000431845.2	-	2	928	c.777G>A	c.(775-777)ctG>ctA	p.L259L	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L259L|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATCTGCCTCCAGCAGCAGCT	0.647																																																	0													48.0	44.0	45.0					6																	33283917		2203	4300	6503	SO:0001819	synonymous_variant	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.777G>A	6.37:g.33283917C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L259	ENST00000431845.2	37	c.777	CCDS4775.1	6																																																																																			ZBTB22	-	NULL		0.647	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	C			33283917	-1	no_errors	ENST00000418724	ensembl	human	known	70_37	silent	SNP	0.999	T
ZFYVE28	57732	genome.wustl.edu	37	4	2307163	2307163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3YQ-01A-11D-A22X-09	TCGA-FU-A3YQ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9825f84f-7b62-480c-9b58-3f461ea578d1	2e0e8f78-0cad-4515-861a-d81c76f98637	g.chr4:2307163C>A	ENST00000290974.2	-	8	1243	c.904G>T	c.(904-906)Gga>Tga	p.G302*	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.G272*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.G232*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	302					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCAGCGGGTCCCTGCACGTCT	0.652																																																	0													43.0	43.0	43.0					4																	2307163		2203	4298	6501	SO:0001587	stop_gained	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.904G>T	4.37:g.2307163C>A	ENSP00000290974:p.Gly302*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Nonsense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G302*	ENST00000290974.2	37	c.904	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.126286	0.94429	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	.	.	.	5.21	3.44	0.39384	.	1.001670	0.08048	N	0.996239	.	.	.	.	.	.	0.21147	N	0.999779	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.4573	0.38762	0.0:0.7769:0.1448:0.0783	.	.	.	.	X	302;272;232	.	ENSP00000290974:G302X	G	-	1	0	ZFYVE28	2276961	0.083000	0.21467	0.001000	0.08648	0.004000	0.04260	3.815000	0.55651	0.573000	0.29400	0.585000	0.79938	GGA	ZFYVE28	-	NULL		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	C	XM_035371		2307163	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	nonsense	SNP	0.004	A
