#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_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
ACACA	31	genome.wustl.edu	37	17	35687252	35687252	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:35687252C>T	ENST00000394406.2	-	3	278	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ACACA_ENST00000416895.1_Missense_Mutation_p.E30K|ACACA_ENST00000588142.1_Missense_Mutation_p.E30K|ACACA_ENST00000353139.5_Missense_Mutation_p.E67K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	30					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCATCCTCTGAGTTATCT	0.488																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													162.0	148.0	152.0					17																	35687252		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.88G>A	17.37:g.35687252C>T	ENSP00000377928:p.Glu30Lys		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E67K	ENST00000394406.2	37	c.199	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268192	0.80469	.	.	ENSG00000132142	ENST00000353139;ENST00000394406;ENST00000452074;ENST00000451642;ENST00000416895;ENST00000456561	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	P;B	0.44429	0.835;0.349	B;B	0.39258	0.295;0.07	T	0.04400	-1.0954	10	0.16896	T	0.51	-16.9821	19.7705	0.96361	0.0:1.0:0.0:0.0	.	67;30	Q13085-4;Q13085	.;ACACA_HUMAN	K	67;30;54;30;30;30	ENSP00000344789:E67K;ENSP00000377928:E30K;ENSP00000397282:E30K;ENSP00000399445:E30K;ENSP00000391001:E30K	ENSP00000344789:E67K	E	-	1	0	ACACA	32761365	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.344000	0.72991	2.669000	0.90835	0.655000	0.94253	GAG	ACACA	-	NULL		0.488	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35687252	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	0.809	T
ADCY7	113	genome.wustl.edu	37	16	50339488	50339488	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:50339488G>A	ENST00000394697.2	+	13	2010	c.1670G>A	c.(1669-1671)aGc>aAc	p.S557N	ADCY7_ENST00000538642.1_Missense_Mutation_p.S557N|ADCY7_ENST00000254235.3_Missense_Mutation_p.S557N|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.S557N			P51828	ADCY7_HUMAN	adenylate cyclase 7	557					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAGGGGCTCAGCTCCACGAGG	0.597																																																	0													154.0	140.0	145.0					16																	50339488		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1670G>A	16.37:g.50339488G>A	ENSP00000378187:p.Ser557Asn		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S557N	ENST00000394697.2	37	c.1670	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	6.690	0.496004	0.12762	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	D;D;D	0.83837	-1.77;-1.77;-1.77	5.64	4.66	0.58398	.	0.000000	0.52532	U	0.000064	T	0.74419	0.3714	L	0.38531	1.155	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.13407	0.006;0.009	T	0.67273	-0.5712	10	0.12766	T	0.61	.	14.1916	0.65641	0.0:0.1618:0.8382:0.0	.	557;557	P51828;F5H4D1	ADCY7_HUMAN;.	N	557	ENSP00000445046:S557N;ENSP00000378187:S557N;ENSP00000254235:S557N	ENSP00000254235:S557N	S	+	2	0	ADCY7	48896989	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.291000	0.43540	1.322000	0.45245	0.591000	0.81541	AGC	ADCY7	-	pfam_Adenylate_cyclase-like		0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50339488	+1	no_errors	ENST00000254235	ensembl	human	known	70_37	missense	SNP	1.000	A
AFF1	4299	genome.wustl.edu	37	4	87967934	87967934	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:87967934C>G	ENST00000307808.6	+	3	646	c.226C>G	c.(226-228)Cac>Gac	p.H76D	AFF1_ENST00000395146.4_Missense_Mutation_p.H83D|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	76					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TACTAAGTCTCACACTCATCG	0.438																																																	0													199.0	202.0	201.0					4																	87967934		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.226C>G	4.37:g.87967934C>G	ENSP00000305689:p.His76Asp		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H83D	ENST00000307808.6	37	c.247	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868747	0.17322	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000511442;ENST00000307808	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.5	2.8	0.32819	.	0.465366	0.23077	N	0.052196	T	0.66218	0.2767	M	0.71581	2.175	0.09310	N	1	D;B;P;D;P;D	0.60575	0.988;0.302;0.642;0.963;0.939;0.988	P;B;B;P;P;P	0.57468	0.821;0.121;0.253;0.651;0.651;0.821	T	0.55560	-0.8122	10	0.31617	T	0.26	-5.0444	3.1862	0.06602	0.1221:0.5593:0.1184:0.2003	.	83;83;17;76;76;83	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	D	83;83;83;83;17;76	ENSP00000378578:H83D;ENSP00000427593:H83D;ENSP00000424483:H83D;ENSP00000425755:H17D;ENSP00000305689:H76D	ENSP00000305689:H76D	H	+	1	0	AFF1	88186958	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.288000	0.18939	0.357000	0.24183	-0.150000	0.13652	CAC	AFF1	-	pfam_TF_AF4/FMR2		0.438	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		87967934	+1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.000	G
AK8	158067	genome.wustl.edu	37	9	135601303	135601303	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:135601303G>A	ENST00000298545.3	-	13	1733	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	404	Adenylate kinase 2.|LID 2. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GCTTGTACATGAGGTGGTACC	0.557																																																	0													79.0	69.0	72.0					9																	135601303		2203	4300	6503	SO:0001819	synonymous_variant	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1212C>T	9.37:g.135601303G>A			A8K821|Q8N9W9	Silent	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.L404	ENST00000298545.3	37	c.1212	CCDS6954.1	9																																																																																			AK8	-	pfam_Adenylate_kin		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	G	NM_152572		135601303	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	silent	SNP	0.999	A
ALMS1	7840	genome.wustl.edu	37	2	73679354	73679354	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:73679354G>C	ENST00000264448.6	+	8	5808	c.5697G>C	c.(5695-5697)gaG>gaC	p.E1899D	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1899D|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1857D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1899	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAATAGAGAGAAGGCCAGTA	0.428																																																	0													60.0	60.0	60.0					2																	73679354		1879	4095	5974	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5697G>C	2.37:g.73679354G>C	ENSP00000264448:p.Glu1899Asp		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E1899D	ENST00000264448.6	37	c.5697	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603740	0.46423	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.24723	2.74;2.58;1.84	4.08	0.253	0.15551	.	0.846706	0.10073	N	0.719453	T	0.38134	0.1029	M	0.62723	1.935	0.09310	N	1	B;D;B	0.67145	0.234;0.996;0.22	B;P;B	0.62560	0.084;0.904;0.108	T	0.18587	-1.0332	10	0.59425	D	0.04	.	3.7288	0.08485	0.3143:0.1859:0.4998:0.0	.	1899;1857;1899	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	D	1857;1899;1899	ENSP00000386627:E1857D;ENSP00000264448:E1899D;ENSP00000366944:E1899D	ENSP00000264448:E1899D	E	+	3	2	ALMS1	73532862	0.002000	0.14202	0.001000	0.08648	0.792000	0.44763	-0.435000	0.06931	0.037000	0.15575	0.555000	0.69702	GAG	ALMS1	-	NULL		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73679354	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.002	C
ANAPC2	29882	genome.wustl.edu	37	9	140080858	140080858	+	Intron	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:140080858C>G	ENST00000323927.2	-	3	745				SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACCGGCCCCTCTAGCCCAGAA	0.637																																																	0													13.0	12.0	12.0					9																	140080858		2160	4263	6423	SO:0001627	intron_variant	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.741-50G>C	9.37:g.140080858C>G			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	RNA	SNP	-	NULL	ENST00000323927.2	37	NULL	CCDS7033.1	9																																																																																			ANAPC2	-	-		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140080858	-1	no_errors	ENST00000495611	ensembl	human	known	70_37	rna	SNP	0.000	G
ARHGAP44	9912	genome.wustl.edu	37	17	12844388	12844388	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:12844388G>A	ENST00000379672.5	+	8	898	c.598G>A	c.(598-600)Gat>Aat	p.D200N	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.D200N|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.D200N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	200	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCTCTCAGCTGATATGTACAG	0.408																																																	0													153.0	143.0	146.0					17																	12844388		1903	4123	6026	SO:0001583	missense	9912				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.598G>A	17.37:g.12844388G>A	ENSP00000368994:p.Asp200Asn		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.D200N	ENST00000379672.5	37	c.598	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084412	0.55861	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.28895	1.59;1.59	5.68	5.68	0.88126	BAR (3);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.79108	0.921;0.992	T	0.63386	-0.6649	10	0.87932	D	0	.	17.2857	0.87141	0.0:0.0:1.0:0.0	.	200;200	A6NCP5;Q17R89	.;RHG44_HUMAN	N	200	ENSP00000368994:D200N;ENSP00000342566:D200N	ENSP00000342566:D200N	D	+	1	0	ARHGAP44	12785113	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.177000	0.94849	2.675000	0.91044	0.655000	0.94253	GAT	ARHGAP44	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.408	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	G	NM_014859		12844388	+1	no_errors	ENST00000379672	ensembl	human	known	70_37	missense	SNP	1.000	A
ARMC9	80210	genome.wustl.edu	37	2	232196514	232196514	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:232196514G>A	ENST00000349938.4	+	20	1977	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	595						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGAGGACCATGACATCATGGA	0.547																																																	0													63.0	61.0	62.0					2																	232196514		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1783G>A	2.37:g.232196514G>A	ENSP00000258417:p.Asp595Asn		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D595N	ENST00000349938.4	37	c.1783	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907808	0.72868	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.23754	1.89	5.64	5.64	0.86602	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.29908	0.895	0.53688	D	0.999978	P	0.39404	0.672	P	0.46208	0.507	T	0.01378	-1.1370	10	0.39692	T	0.17	-29.0365	17.1912	0.86880	0.0:0.0:1.0:0.0	.	595	Q7Z3E5	ARMC9_HUMAN	N	595	ENSP00000258417:D595N	ENSP00000258417:D595N	D	+	1	0	ARMC9	231904758	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	4.800000	0.62524	2.669000	0.90835	0.462000	0.41574	GAC	ARMC9	-	NULL		0.547	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232196514	+1	no_errors	ENST00000349938	ensembl	human	known	70_37	missense	SNP	1.000	A
ARMCX4	100131755	genome.wustl.edu	37	X	100743007	100743007	+	5'Flank	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:100743007C>T	ENST00000423738.3	+	0	0					NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4							integral component of membrane (GO:0016021)				lung(1)	1						CCAGAGATCTCATGAATTTAT	0.468																																																	0																																										SO:0001631	upstream_gene_variant	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030		X.37:g.100743007C>T	Exception_encountered		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	NULL	p.L29	ENST00000423738.3	37	c.87	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.468	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	C	NM_001256155		100743007	+1	no_errors	ENST00000433011	ensembl	human	known	70_37	silent	SNP	0.947	T
ATP10B	23120	genome.wustl.edu	37	5	160042920	160042920	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:160042920C>T	ENST00000327245.5	-	17	3424	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	860					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGATGCCTCAGCCTCACGC	0.478																																																	0													83.0	83.0	83.0					5																	160042920		1947	4127	6074	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2578G>A	5.37:g.160042920C>T	ENSP00000313600:p.Glu860Lys		Q9H725	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.E860K	ENST00000327245.5	37	c.2578	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021116	0.93462	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.44083	0.93;1.94	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.136890	0.51477	D	0.000090	T	0.50292	0.1607	N	0.17764	0.52	0.46849	D	0.999224	D;D	0.76494	0.999;0.99	D;P	0.72338	0.977;0.87	T	0.43734	-0.9373	9	.	.	.	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	468;860	Q2YDW8;O94823	.;AT10B_HUMAN	K	860;468	ENSP00000313600:E860K;ENSP00000431081:E468K	.	E	-	1	0	ATP10B	159975498	0.987000	0.35691	0.973000	0.42090	0.992000	0.81027	2.640000	0.46579	2.657000	0.90304	0.655000	0.94253	GAG	ATP10B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160042920	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.991	T
ATP5F1	515	genome.wustl.edu	37	1	111999270	111999270	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:111999270G>A	ENST00000369722.3	+	5	1012	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.E75K	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	136					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCCCAACTAGAAGAGGCGAA	0.413																																																	0													76.0	74.0	74.0					1																	111999270		2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.406G>A	1.37:g.111999270G>A	ENSP00000358737:p.Glu136Lys		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.E136K	ENST00000369722.3	37	c.406	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429893	0.43122	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.28454	1.61;1.61	5.4	5.4	0.78164	.	0.145131	0.64402	D	0.000009	T	0.15478	0.0373	L	0.47190	1.495	0.35767	D	0.820594	P;P	0.40266	0.71;0.71	P;P	0.44477	0.451;0.451	T	0.10683	-1.0619	10	0.25106	T	0.35	.	5.0425	0.14465	0.079:0.1464:0.6228:0.1518	.	136;136	Q08ET0;P24539	.;AT5F1_HUMAN	K	136;75	ENSP00000358737:E136K;ENSP00000420366:E75K	ENSP00000358737:E136K	E	+	1	0	ATP5F1	111800793	0.767000	0.28508	0.994000	0.49952	0.479000	0.33129	1.040000	0.30278	2.703000	0.92315	0.655000	0.94253	GAA	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt		0.413	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	G	NM_001688		111999270	+1	no_errors	ENST00000369722	ensembl	human	known	70_37	missense	SNP	0.967	A
BACE2	25825	genome.wustl.edu	37	21	42609509	42609509	+	Silent	SNP	C	C	T	rs140693856		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:42609509C>T	ENST00000330333.6	+	3	934	c.471C>T	c.(469-471)ttC>ttT	p.F157F	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Silent_p.F157F|BACE2_ENST00000328735.6_Silent_p.F157F	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	157					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGACGGGCTTCGTTGGGGAAG	0.443																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	90.0	72.0	78.0		471,471,471	-7.8	0.0	21	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	BACE2	NM_012105.3,NM_138991.1,NM_138992.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	157/519,157/469,157/397	42609509	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.471C>T	21.37:g.42609509C>T			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.F157	ENST00000330333.6	37	c.471	CCDS13668.1	21																																																																																			BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.443	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	C			42609509	+1	no_errors	ENST00000330333	ensembl	human	known	70_37	silent	SNP	0.000	T
BAI3	577	genome.wustl.edu	37	6	70048837	70048837	+	Missense_Mutation	SNP	C	C	T	rs376079687		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:70048837C>T	ENST00000370598.1	+	25	4039	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	BAI3_ENST00000546190.1_Missense_Mutation_p.T37M|BAI3_ENST00000238918.8_Missense_Mutation_p.T279M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCGGTTTGACGCTCAAATGT	0.413																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	224.0	220.0	221.0		3218	6.2	1.0	6		221	0,8600		0,0,4300	no	missense	BAI3	NM_001704.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1073/1523	70048837	1,13005	2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3218C>T	6.37:g.70048837C>T	ENSP00000359630:p.Thr1073Met		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T1073M	ENST00000370598.1	37	c.3218	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146269	0.77888	2.27E-4	0.0	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.46063	2.0;2.63;0.88	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.49778	1.585	0.53688	D	0.999976	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.78314	0.98;0.91;0.991	T	0.29731	-1.0002	10	0.33940	T	0.23	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	279;1073;1073	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	M	1073;279;37	ENSP00000359630:T1073M;ENSP00000238918:T279M;ENSP00000441821:T37M	ENSP00000238918:T279M	T	+	2	0	BAI3	70105558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.937000	0.99478	0.650000	0.86243	ACG	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	C			70048837	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	T
BBS7	55212	genome.wustl.edu	37	4	122754426	122754426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:122754426G>A	ENST00000264499.4	-	15	1819	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q546*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	546					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGGTGTTCTGAAAGTAAAAT	0.378									Bardet-Biedl syndrome																																								0													71.0	72.0	72.0					4																	122754426		2203	4300	6503	SO:0001587	stop_gained	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1636C>T	4.37:g.122754426G>A	ENSP00000264499:p.Gln546*		Q4W5P8|Q8N581|Q9NVI4	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.Q546*	ENST00000264499.4	37	c.1636	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.423634	0.98275	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	.	.	.	5.77	5.77	0.91146	.	0.276082	0.40554	N	0.001072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-9.6024	14.7783	0.69746	0.0:0.0:0.8557:0.1443	.	.	.	.	X	546	.	ENSP00000264499:Q546X	Q	-	1	0	BBS7	122973876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.724000	0.93272	0.650000	0.86243	CAG	BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot		0.378	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	G			122754426	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BCAM	4059	genome.wustl.edu	37	19	45322970	45322970	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:45322970G>C	ENST00000270233.6	+	13	1772	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	BCAM_ENST00000589651.1_Missense_Mutation_p.E584Q	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	584					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCAGCGGCGGGAGAAGGGGGC	0.632																																																	0													14.0	17.0	16.0					19																	45322970		2185	4249	6434	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1750G>C	19.37:g.45322970G>C	ENSP00000270233:p.Glu584Gln		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E584Q	ENST00000270233.6	37	c.1750	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207477	0.39003	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.59638	0.28;0.25	4.08	4.08	0.47627	.	.	.	.	.	T	0.59487	0.2197	L	0.27053	0.805	0.27922	N	0.938202	D	0.71674	0.998	D	0.75484	0.986	T	0.47446	-0.9117	9	0.09590	T	0.72	-26.5039	12.2337	0.54503	0.0:0.0:1.0:0.0	.	584	P50895	BCAM_HUMAN	Q	584	ENSP00000270233:E584Q;ENSP00000375817:E584Q	ENSP00000270233:E584Q	E	+	1	0	BCAM	50014810	0.996000	0.38824	0.945000	0.38365	0.313000	0.28021	3.002000	0.49496	2.018000	0.59344	0.531000	0.56144	GAG	BCAM	-	NULL		0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	G	NM_005581		45322970	+1	no_errors	ENST00000270233	ensembl	human	known	70_37	missense	SNP	0.976	C
BCHE	590	genome.wustl.edu	37	3	165504083	165504083	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:165504083G>C	ENST00000264381.3	-	3	1700	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	512					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTATTGTTCTGAGTCTCATTT	0.308																																																	0													111.0	101.0	105.0					3																	165504083		2203	4300	6503	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1534C>G	3.37:g.165504083G>C	ENSP00000264381:p.Gln512Glu		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.Q512E	ENST00000264381.3	37	c.1534	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371267	0.01225	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000488954	T;D;D	0.95103	-0.21;-3.61;-3.61	5.48	5.48	0.80851	Carboxylesterase, type B (1);	0.422890	0.27016	N	0.021351	D	0.88108	0.6348	N	0.17379	0.485	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.82971	-0.0192	10	0.02654	T	1	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	512	P06276	CHLE_HUMAN	E	512;42;42	ENSP00000264381:Q512E;ENSP00000418325:Q42E;ENSP00000418504:Q42E	ENSP00000264381:Q512E	Q	-	1	0	BCHE	166986777	1.000000	0.71417	0.713000	0.30519	0.251000	0.25915	2.632000	0.46511	2.589000	0.87451	0.655000	0.94253	CAG	BCHE	-	pfam_CarbesteraseB		0.308	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165504083	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	0.950	C
BTN3A1	11119	genome.wustl.edu	37	6	26409930	26409930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:26409930G>A	ENST00000289361.6	+	5	1253	c.885G>A	c.(883-885)tgG>tgA	p.W295*	BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.W295*|BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.W295*|BTN3A1_ENST00000414912.2_Nonsense_Mutation_p.W243*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	295					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AAATGGCATGGAGCACAATGA	0.498																																																	0													153.0	166.0	161.0					6																	26409930		2203	4300	6503	SO:0001587	stop_gained	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.885G>A	6.37:g.26409930G>A	ENSP00000289361:p.Trp295*		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.W295*	ENST00000289361.6	37	c.885	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	22.1	4.250377	0.80024	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	.	.	.	1.18	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.7447	0.18114	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;243	.	ENSP00000289361:W295X	W	+	3	0	BTN3A1	26517909	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.187000	0.32090	0.952000	0.37798	0.603000	0.83216	TGG	BTN3A1	-	NULL		0.498	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	G			26409930	+1	no_errors	ENST00000289361	ensembl	human	known	70_37	nonsense	SNP	0.001	A
C11orf80	79703	genome.wustl.edu	37	11	66610676	66610676	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66610676G>A	ENST00000360962.4	+	17	2012	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	RCE1_ENST00000525356.1_5'Flank|C11orf80_ENST00000346672.4_Missense_Mutation_p.E478K|RCE1_ENST00000309657.3_5'Flank|RCE1_ENST00000524506.1_5'Flank|C11orf80_ENST00000527634.1_Missense_Mutation_p.E452K|C11orf80_ENST00000540737.1_Missense_Mutation_p.E503K|C11orf80_ENST00000525449.2_Missense_Mutation_p.E477K|C11orf80_ENST00000532565.2_Missense_Mutation_p.E451K	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	669										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACCTGTCAGAGTGGCTGAG	0.677																																																	0													15.0	19.0	18.0					11																	66610676		1954	4136	6090	SO:0001583	missense	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.2005G>A	11.37:g.66610676G>A	ENSP00000354227:p.Glu669Lys		Q9H677	Missense_Mutation	SNP	NULL	p.E669K	ENST00000360962.4	37	c.2005	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005667	0.54254	.	.	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.44482	0.92	4.13	3.22	0.36961	.	0.000000	0.41294	D	0.000907	T	0.25344	0.0616	L	0.29908	0.895	0.80722	D	1	B;B;B;B;P	0.36144	0.087;0.087;0.291;0.291;0.539	B;B;B;B;B	0.27796	0.043;0.043;0.049;0.049;0.083	T	0.09122	-1.0689	10	0.87932	D	0	-13.4158	7.6346	0.28259	0.1163:0.0:0.8837:0.0	.	503;478;452;514;504	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	K	669;478;452;504;503;478	ENSP00000354227:E669K	ENSP00000317408:E478K	E	+	1	0	C11orf80	66367252	0.999000	0.42202	0.363000	0.25875	0.001000	0.01503	3.538000	0.53597	0.960000	0.38005	-0.229000	0.12294	GAG	C11orf80	-	NULL		0.677	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		G	NM_024650		66610676	+1	no_errors	ENST00000360962	ensembl	human	known	70_37	missense	SNP	0.709	A
C16orf13	84326	genome.wustl.edu	37	16	684612	684612	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:684612G>C	ENST00000301686.8	-	6	611	c.600C>G	c.(598-600)atC>atG	p.I200M	C16orf13_ENST00000397665.2_Missense_Mutation_p.L158V|C16orf13_ENST00000397664.4_Missense_Mutation_p.I123M|C16orf13_ENST00000397666.2_Missense_Mutation_p.L178V|C16orf13_ENST00000338401.4_Missense_Mutation_p.I103M	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	200										large_intestine(1)	1		Hepatocellular(780;0.00335)				TTTTCCGGAAGATCAGGCATT	0.627																																																	0													183.0	208.0	200.0					16																	684612		2201	4300	6501	SO:0001583	missense	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.600C>G	16.37:g.684612G>C	ENSP00000445926:p.Ile200Met		A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Missense_Mutation	SNP	pfam_DUF938	p.L178V	ENST00000301686.8	37	c.532	CCDS45368.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.043546|2.043546	0.36085|0.36085	.|.	.|.	ENSG00000130731|ENSG00000130731	ENST00000301686;ENST00000397664;ENST00000338401|ENST00000397666;ENST00000397665	T;T;T|T	0.47528|0.52754	0.84;0.84;0.84|0.65	4.31|4.31	0.587|0.587	0.17439|0.17439	.|.	0.216041|.	0.38778|.	N|.	0.001574|.	T|T	0.43211|0.43211	0.1237|0.1237	M|M	0.80183|0.80183	2.485|2.485	0.21762|0.21762	N|N	0.999558|0.999558	D;D;D|B;B	0.71674|0.16802	0.964;0.993;0.998|0.017;0.019	P;D;D|B;B	0.73380|0.20767	0.778;0.919;0.98|0.014;0.031	T|T	0.40572|0.40572	-0.9556|-0.9556	10|9	0.72032|0.17369	D|T	0.01|0.5	-24.562|-24.562	4.324|4.324	0.11031|0.11031	0.3811:0.0:0.4366:0.1823|0.3811:0.0:0.4366:0.1823	.|.	103;123;200|158;178	Q96S19-3;D6REA6;Q96S19|F6TF62;F6VM53	.;.;CP013_HUMAN|.;.	M|V	200;123;103|178;158	ENSP00000445926:I200M;ENSP00000440475:I123M;ENSP00000444140:I103M|ENSP00000440765:L178V	ENSP00000445926:I200M|ENSP00000444460:L158V	I|L	-|-	3|1	3|0	Z84479.1|Z84479.1	624613|624613	0.712000|0.712000	0.27916|0.27916	0.998000|0.998000	0.56505|0.56505	0.628000|0.628000	0.37860|0.37860	-0.178000|-0.178000	0.09782|0.09782	-0.126000|-0.126000	0.11682|0.11682	-0.378000|-0.378000	0.06908|0.06908	ATC|CTT	C16orf13	-	NULL		0.627	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf13	HGNC	protein_coding	OTTHUMT00000109081.2	G	NM_001040160		684612	-1	no_errors	ENST00000397666	ensembl	human	known	70_37	missense	SNP	0.997	C
ERICH3	127254	genome.wustl.edu	37	1	75078444	75078444	+	Silent	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:75078444G>T	ENST00000326665.5	-	9	1268	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	C1orf173_ENST00000420661.2_Silent_p.L153L|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		350										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAAAAAGGTGAGACTGAAGG	0.428																																																	0													85.0	85.0	85.0					1																	75078444		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.1050C>A	1.37:g.75078444G>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.L350	ENST00000326665.5	37	c.1050	CCDS30755.1	1																																																																																			C1orf173	-	NULL		0.428	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75078444	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	silent	SNP	1.000	T
C21orf59	56683	genome.wustl.edu	37	21	33982260	33982260	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:33982260C>T	ENST00000290155.3	-	2	817	c.195G>A	c.(193-195)ctG>ctA	p.L65L	AP000275.65_ENST00000553001.1_Silent_p.L65L|C21orf59_ENST00000382549.4_Silent_p.L65L|C21orf59_ENST00000540881.1_Intron	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	65						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						GATCATCGGTCAGTCCTTGCA	0.383																																																	0													121.0	107.0	112.0					21																	33982260		2203	4300	6503	SO:0001819	synonymous_variant	56683			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.195G>A	21.37:g.33982260C>T			Q53FH0	Silent	SNP	pfam_DUF2870	p.L65	ENST00000290155.3	37	c.195	CCDS13617.1	21																																																																																			C21orf59	-	NULL		0.383	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	C	NM_021254		33982260	-1	no_errors	ENST00000290155	ensembl	human	known	70_37	silent	SNP	1.000	T
C22orf46	79640	genome.wustl.edu	37	22	42089939	42089939	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:42089939C>T	ENST00000402966.1	+	2	774	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001142964.1	NP_001136436.1	C9J442	CV046_HUMAN	chromosome 22 open reading frame 46	230						extracellular region (GO:0005576)											AACTTACTTTCAGCTGAGAGG	0.537																																																	0													23.0	21.0	21.0					22																	42089939		692	1591	2283	SO:0001583	missense	79640			BC007210	CCDS46717.1	22q13.2	2011-01-25			ENSG00000184208	ENSG00000184208			26294	protein-coding gene	gene with protein product						12477932	Standard	NM_001142964		Approved	FLJ23584, CTA-216E10.6	uc003bax.1	C9J442	OTTHUMG00000151188	ENST00000402966.1:c.689C>T	22.37:g.42089939C>T	ENSP00000385467:p.Ser230Leu			Missense_Mutation	SNP	NULL	p.S230L	ENST00000402966.1	37	c.689	CCDS46717.1	22	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420811	0.42918	.	.	ENSG00000184208	ENST00000402966	D	0.88201	-2.35	3.57	3.57	0.40892	.	.	.	.	.	D	0.85164	0.5634	N	0.14661	0.345	0.18873	N	0.999988	D	0.63046	0.992	P	0.55345	0.774	T	0.75399	-0.3331	8	.	.	.	.	10.875	0.46906	0.0:1.0:0.0:0.0	.	230	C9J442	CV046_HUMAN	L	230	ENSP00000385467:S230L	.	S	+	2	0	C22orf46	40419885	0.007000	0.16637	0.536000	0.28039	0.061000	0.15899	1.825000	0.39081	2.017000	0.59298	0.462000	0.41574	TCA	C22orf46	-	NULL		0.537	C22orf46-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C22orf46	HGNC	protein_coding	OTTHUMT00000321678.2	C	NM_024588		42089939	+1	no_errors	ENST00000402966	ensembl	human	known	70_37	missense	SNP	0.547	T
C5	727	genome.wustl.edu	37	9	123734236	123734236	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:123734236C>T	ENST00000223642.1	-	31	4081	c.4052G>A	c.(4051-4053)gGa>gAa	p.G1351E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1351					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ACTGCCAAATCCTGTACTGAC	0.383																																																	0													96.0	91.0	93.0					9																	123734236		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4052G>A	9.37:g.123734236C>T	ENSP00000223642:p.Gly1351Glu		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G1351E	ENST00000223642.1	37	c.4052	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738082	0.69304	.	.	ENSG00000106804	ENST00000223642	T	0.37915	1.17	5.62	5.62	0.85841	.	0.162786	0.53938	D	0.000048	T	0.59609	0.2206	M	0.77616	2.38	0.40260	D	0.978165	D	0.76494	0.999	D	0.66716	0.946	T	0.62923	-0.6751	10	0.62326	D	0.03	.	14.2361	0.65927	0.0:0.8507:0.1493:0.0	.	1351	P01031	CO5_HUMAN	E	1351	ENSP00000223642:G1351E	ENSP00000223642:G1351E	G	-	2	0	C5	122774057	0.952000	0.32445	0.930000	0.37139	0.862000	0.49288	2.997000	0.49457	2.818000	0.97014	0.655000	0.94253	GGA	C5	-	NULL		0.383	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123734236	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.966	T
C5	727	genome.wustl.edu	37	9	123737059	123737059	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:123737059C>T	ENST00000223642.1	-	30	4044	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1339					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCATTTACCTCTACTGGCCTC	0.348																																																	0													110.0	114.0	113.0					9																	123737059		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4015G>A	9.37:g.123737059C>T	ENSP00000223642:p.Glu1339Lys		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E1339K	ENST00000223642.1	37	c.4015	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968371	0.74131	.	.	ENSG00000106804	ENST00000223642	T	0.34472	1.36	5.71	5.71	0.89125	.	0.220504	0.44285	D	0.000469	T	0.56262	0.1973	M	0.79475	2.455	0.36442	D	0.865534	D	0.67145	0.996	P	0.58331	0.837	T	0.66468	-0.5916	10	0.59425	D	0.04	.	14.139	0.65308	0.0:0.9264:0.0:0.0736	.	1339	P01031	CO5_HUMAN	K	1339	ENSP00000223642:E1339K	ENSP00000223642:E1339K	E	-	1	0	C5	122776880	0.973000	0.33851	0.993000	0.49108	0.702000	0.40608	1.073000	0.30691	2.686000	0.91538	0.650000	0.86243	GAG	C5	-	NULL		0.348	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123737059	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.997	T
C5orf45	51149	genome.wustl.edu	37	5	179280429	179280429	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:179280429C>A	ENST00000292586.6	-	2	165	c.75G>T	c.(73-75)aaG>aaT	p.K25N	C5orf45_ENST00000521333.1_Missense_Mutation_p.K25N|C5orf45_ENST00000518219.1_Missense_Mutation_p.K25N|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.K25N|C5orf45_ENST00000403396.2_Nonsense_Mutation_p.E41*|C5orf45_ENST00000520698.1_Missense_Mutation_p.K25N|C5orf45_ENST00000518235.1_Missense_Mutation_p.K25N	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	25										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ACTTGACACTCTTTTTTACCT	0.453																																																	0													91.0	87.0	88.0					5																	179280429		2203	4300	6503	SO:0001583	missense	51149				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.75G>T	5.37:g.179280429C>A	ENSP00000292586:p.Lys25Asn		B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Nonsense_Mutation	SNP	NULL	p.E41*	ENST00000292586.6	37	c.121	CCDS34319.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680894|3.680894	0.68042|0.68042	.|.	.|.	ENSG00000161010|ENSG00000161010	ENST00000403396|ENST00000518235;ENST00000520698;ENST00000376931;ENST00000518219;ENST00000292586;ENST00000521333	.|T;D;D;D;T;D	.|0.81739	.|1.77;-1.53;-1.53;-1.53;1.77;-1.53	4.03|4.03	3.15|3.15	0.36227|0.36227	.|.	.|0.245514	.|0.26983	.|N	.|0.021517	.|D	.|0.87704	.|0.6244	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	A|A	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.976;0.999;0.976;0.998	.|D	.|0.90490	.|0.4466	.|9	0.87932|0.66056	D|D	0|0.02	-16.1919|-16.1919	9.4609|9.4609	0.38785|0.38785	0.0:0.8973:0.0:0.1027|0.0:0.8973:0.0:0.1027	.|.	.|25;25;25;25	.|E7EMV9;B7Z1T6;E9PAK6;Q6NTE8	.|.;.;.;CE045_HUMAN	X|N	41|25	.|ENSP00000430298:K25N;ENSP00000427849:K25N;ENSP00000366130:K25N;ENSP00000428460:K25N;ENSP00000292586:K25N;ENSP00000429651:K25N	ENSP00000384599:E41X|ENSP00000292586:K25N	E|K	-|-	1|3	0|2	C5orf45|C5orf45	179213035|179213035	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.944000|0.944000	0.59088|0.59088	0.535000|0.535000	0.23114|0.23114	1.268000|1.268000	0.44264|0.44264	0.655000|0.655000	0.94253|0.94253	GAG|AAG	C5orf45	-	NULL		0.453	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	C	NM_016175		179280429	-1	no_errors	ENST00000403396	ensembl	human	known	70_37	nonsense	SNP	0.997	A
C6orf118	168090	genome.wustl.edu	37	6	165715766	165715766	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:165715766G>C	ENST00000230301.8	-	2	65	c.45C>G	c.(43-45)caC>caG	p.H15Q	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	15										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGTCTCGCAGTGCTTCCACT	0.522																																																	0													48.0	52.0	51.0					6																	165715766		2203	4300	6503	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.45C>G	6.37:g.165715766G>C	ENSP00000230301:p.His15Gln		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.H15Q	ENST00000230301.8	37	c.45	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	-	9.751	1.167600	0.21621	.	.	ENSG00000112539	ENST00000230301	T	0.14640	2.49	4.36	2.36	0.29203	.	0.218384	0.32578	N	0.005902	T	0.08537	0.0212	L	0.61218	1.895	0.31549	N	0.659005	B	0.32781	0.384	B	0.42245	0.381	T	0.06391	-1.0829	10	0.72032	D	0.01	.	5.7142	0.17950	0.2559:0.0:0.7441:0.0	.	15	Q5T5N4	CF118_HUMAN	Q	15	ENSP00000230301:H15Q	ENSP00000230301:H15Q	H	-	3	2	C6orf118	165635756	0.997000	0.39634	0.748000	0.31131	0.007000	0.05969	1.090000	0.30902	1.008000	0.39264	0.561000	0.74099	CAC	C6orf118	-	NULL		0.522	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	G	NM_144980		165715766	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.396	C
CAMTA1	23261	genome.wustl.edu	37	1	7723501	7723501	+	Silent	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:7723501G>C	ENST00000303635.7	+	9	1101	c.894G>C	c.(892-894)ggG>ggC	p.G298G	CAMTA1_ENST00000439411.2_Silent_p.G298G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGGGTACGGGAGCCACTCGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													104.0	109.0	107.0					1																	7723501		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.894G>C	1.37:g.7723501G>C			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G298	ENST00000303635.7	37	c.894	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7723501	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	0.998	C
CFAP53	220136	genome.wustl.edu	37	18	47753901	47753901	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:47753901C>T	ENST00000398545.4	-	8	1512	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTCTTCCTTCTCTGCTTCTT	0.493																																																	0													236.0	235.0	235.0					18																	47753901		2011	4170	6181	SO:0001819	synonymous_variant	220136																														ENST00000398545.4:c.1395G>A	18.37:g.47753901C>T				Silent	SNP	NULL	p.E465	ENST00000398545.4	37	c.1395	CCDS11940.2	18																																																																																			CCDC11	-	NULL		0.493	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	C			47753901	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	silent	SNP	0.636	T
CCDC74A	90557	genome.wustl.edu	37	2	132288365	132288365	+	Missense_Mutation	SNP	C	C	T	rs572146128	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:132288365C>T	ENST00000295171.6	+	3	647	c.509C>T	c.(508-510)tCa>tTa	p.S170L	CCDC74A_ENST00000467992.2_Missense_Mutation_p.S272L|CCDC74A_ENST00000409856.3_Missense_Mutation_p.S104L	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	170										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTCCATGTCAAGCTTCCAG	0.642																																																	0													39.0	56.0	50.0					2																	132288365		2193	4294	6487	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.509C>T	2.37:g.132288365C>T	ENSP00000295171:p.Ser170Leu		Q6P4I5	Missense_Mutation	SNP	NULL	p.S170L	ENST00000295171.6	37	c.509	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	4.327	0.060077	0.08339	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.61392	1.53;1.77;0.62;0.11	2.13	-0.0519	0.13824	.	1.266030	0.05915	U	0.632355	T	0.52403	0.1732	M	0.64997	1.995	0.09310	N	1	B;P	0.50528	0.01;0.936	B;P	0.44477	0.006;0.451	T	0.39761	-0.9598	10	0.29301	T	0.29	-2.8574	3.15	0.06484	0.0:0.4981:0.3053:0.1966	.	104;170	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	L	170;104;99;272	ENSP00000295171:S170L;ENSP00000387009:S104L;ENSP00000406839:S99L;ENSP00000444610:S272L	ENSP00000295171:S170L	S	+	2	0	CCDC74A	132004835	0.004000	0.15560	0.001000	0.08648	0.055000	0.15305	0.311000	0.19380	-0.185000	0.10550	0.194000	0.17425	TCA	CCDC74A	-	NULL		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288365	+1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.002	T
CCDC87	55231	genome.wustl.edu	37	11	66358279	66358279	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66358279C>T	ENST00000333861.3	-	1	2275	c.2208G>A	c.(2206-2208)gcG>gcA	p.A736A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	736					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACTCTAGTCTCGCCAGCAATG	0.542																																																	0													102.0	111.0	108.0					11																	66358279		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2208G>A	11.37:g.66358279C>T			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.A736	ENST00000333861.3	37	c.2208	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.542	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66358279	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	0.000	T
CCT2	10576	genome.wustl.edu	37	12	69991758	69991758	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:69991758G>C	ENST00000299300.6	+	13	1430	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	CCT2_ENST00000543146.2_Missense_Mutation_p.E367D|CCT2_ENST00000544368.2_Missense_Mutation_p.E414D	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	414					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTGTTCTGAGATGTTGATGG	0.373																																																	0													44.0	40.0	41.0					12																	69991758		2203	4300	6503	SO:0001583	missense	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1242G>C	12.37:g.69991758G>C	ENSP00000299300:p.Glu414Asp		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.E414D	ENST00000299300.6	37	c.1242	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429058	0.83667	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.83506	-1.73;-1.73;-1.73	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.94021	3.485	0.80722	D	1	P;D	0.53619	0.856;0.961	P;D	0.66847	0.543;0.947	D	0.93614	0.6941	9	.	.	.	-12.6021	13.8591	0.63548	0.0717:0.0:0.9283:0.0	.	414;414	F5GWF6;P78371	.;TCPB_HUMAN	D	414;414;367	ENSP00000299300:E414D;ENSP00000441847:E414D;ENSP00000445471:E367D	.	E	+	3	2	CCT2	68278025	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.369000	0.59511	2.941000	0.99782	0.655000	0.94253	GAG	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta		0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	G	NM_006431		69991758	+1	no_errors	ENST00000299300	ensembl	human	known	70_37	missense	SNP	1.000	C
CDC20	991	genome.wustl.edu	37	1	43825052	43825052	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:43825052C>T	ENST00000372462.1	+	1	369	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.P56S			Q12834	CDC20_HUMAN	cell division cycle 20	56					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGCAGGACTCCGGGCCGAAC	0.652																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													23.0	29.0	27.0					1																	43825052		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.166C>T	1.37:g.43825052C>T	ENSP00000361540:p.Pro56Ser		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P56S	ENST00000372462.1	37	c.166	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.073821	0.94000	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.57907	0.37;0.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	L	0.56199	1.76	0.80722	D	1	D	0.55800	0.973	P	0.51945	0.685	T	0.61608	-0.7028	10	0.51188	T	0.08	-23.0807	20.3312	0.98718	0.0:1.0:0.0:0.0	.	56	Q12834	CDC20_HUMAN	S	56	ENSP00000308450:P56S;ENSP00000361540:P56S	ENSP00000308450:P56S	P	+	1	0	CDC20	43597639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.797000	0.96272	0.655000	0.94253	CCG	CDC20	-	NULL		0.652	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	C	NM_001255		43825052	+1	no_errors	ENST00000310955	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC7	8317	genome.wustl.edu	37	1	91989843	91989843	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:91989843G>T	ENST00000428239.1	+	12	1835	c.1576G>T	c.(1576-1578)Gat>Tat	p.D526Y	CDC7_ENST00000430031.2_Missense_Mutation_p.D498Y|CDC7_ENST00000234626.6_Missense_Mutation_p.D526Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		gcattgttttgatgagtataA	0.388																																																	0													146.0	152.0	150.0					1																	91989843		2203	4300	6503	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1576G>T	1.37:g.91989843G>T	ENSP00000393139:p.Asp526Tyr		D3DT31|O00558|Q5T5U5	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.D526Y	ENST00000428239.1	37	c.1576	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021057	0.54576	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.52526	0.66;0.81;0.81	5.94	-4.14	0.03892	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	2.167500	0.01327	N	0.011138	T	0.25680	0.0625	N	0.16567	0.415	0.09310	N	1	P;B;P	0.45240	0.822;0.008;0.854	P;B;P	0.53988	0.671;0.029;0.739	T	0.27468	-1.0073	10	0.72032	D	0.01	-3.7295	7.6649	0.28426	0.448:0.1928:0.3592:0.0	.	498;526;526	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	Y	498;526;526	ENSP00000407477:D498Y;ENSP00000234626:D526Y;ENSP00000393139:D526Y	ENSP00000234626:D526Y	D	+	1	0	CDC7	91762431	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.563000	0.23547	-0.636000	0.05524	-0.157000	0.13467	GAT	CDC7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.388	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	G	NM_003503		91989843	+1	no_errors	ENST00000234626	ensembl	human	known	70_37	missense	SNP	0.000	T
CHD1	1105	genome.wustl.edu	37	5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:98192335G>A	ENST00000284049.3	-	35	5031	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1628	3 X 5 AA repeats of H-S-D-H-R.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383																																																	0													118.0	112.0	114.0					5																	98192335		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4882C>T	5.37:g.98192335G>A	ENSP00000284049:p.His1628Tyr		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1628Y	ENST00000284049.3	37	c.4882	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750102	0.15778	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89617	-2.54	5.55	5.55	0.83447	.	0.000000	0.34676	U	0.003775	T	0.71676	0.3368	N	0.01874	-0.695	0.41263	D	0.986799	B	0.06786	0.001	B	0.01281	0.0	T	0.69105	-0.5233	10	0.12766	T	0.61	.	12.8009	0.57586	0.0749:0.0:0.9251:0.0	.	1628	O14646	CHD1_HUMAN	Y	218;1628	ENSP00000284049:H1628Y	ENSP00000284049:H1628Y	H	-	1	0	CHD1	98220235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.601000	0.87937	0.655000	0.94253	CAT	CHD1	-	NULL		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	G	NM_001270		98192335	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	A
CHRNA6	8973	genome.wustl.edu	37	8	42611816	42611816	+	Missense_Mutation	SNP	A	A	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:42611816A>G	ENST00000276410.2	-	5	881	c.526T>C	c.(526-528)Ttt>Ctt	p.F176L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.F161L|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	176					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CAGGAACCAAATTTTAGGGAA	0.373																																																	0													121.0	120.0	120.0					8																	42611816		2203	4300	6503	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.526T>C	8.37:g.42611816A>G	ENSP00000276410:p.Phe176Leu		B2R8V4|B4DQH1	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F176L	ENST00000276410.2	37	c.526	CCDS6135.1	8	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840086	0.91117	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	D;D;D	0.81739	-1.53;-1.53;-1.53	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92006	0.5614	10	0.59425	D	0.04	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	161;176	B4DQH1;Q15825	.;ACHA6_HUMAN	L	176;161;97	ENSP00000276410:F176L;ENSP00000433871:F161L;ENSP00000434659:F97L	ENSP00000276410:F176L	F	-	1	0	CHRNA6	42730973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.278000	0.76064	0.529000	0.55759	TTT	CHRNA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.373	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	A			42611816	-1	no_errors	ENST00000276410	ensembl	human	known	70_37	missense	SNP	1.000	G
CLVS1	157807	genome.wustl.edu	37	8	62212607	62212607	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:62212607C>T	ENST00000519846.1	+	3	693	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.A74V|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	74					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAGATGATGCCTTCATCCTG	0.468																																																	0													120.0	102.0	108.0					8																	62212607		2203	4300	6503	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.221C>T	8.37:g.62212607C>T	ENSP00000428402:p.Ala74Val		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.A74V	ENST00000519846.1	37	c.221	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917982	0.92249	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.86769	-2.17;-2.17	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.052129	0.85682	D	0.000000	D	0.89100	0.6619	L	0.39514	1.22	0.58432	D	0.999997	D;P;P	0.62365	0.991;0.853;0.941	P;P;P	0.56216	0.781;0.794;0.614	D	0.87053	0.2148	10	0.33940	T	0.23	-3.5287	20.0313	0.97540	0.0:1.0:0.0:0.0	.	74;74;74	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	V	74	ENSP00000428402:A74V;ENSP00000325506:A74V	ENSP00000325506:A74V	A	+	2	0	CLVS1	62375161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.940000	0.56599	2.746000	0.94184	0.655000	0.94253	GCC	CLVS1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.468	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	C	NM_173519		62212607	+1	no_errors	ENST00000325897	ensembl	human	known	70_37	missense	SNP	1.000	T
COL19A1	1310	genome.wustl.edu	37	6	70831805	70831805	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:70831805C>G	ENST00000322773.4	+	17	1414	c.1312C>G	c.(1312-1314)Ctt>Gtt	p.L438V	COL19A1_ENST00000393344.1_Missense_Mutation_p.L60V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	438					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L438I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACACCAAACTCTTGGTGGATA	0.259																																																	1	Substitution - Missense(1)	lung(1)											71.0	79.0	76.0					6																	70831805		2199	4274	6473	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1312C>G	6.37:g.70831805C>G	ENSP00000316030:p.Leu438Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L438V	ENST00000322773.4	37	c.1312	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838816	0.16891	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	T;T;T	0.56611	0.45;0.45;0.45	5.32	1.7	0.24286	.	0.281933	0.26711	N	0.022893	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31705	0.336	B	0.30943	0.122	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.2441	0.26112	0.0:0.4086:0.0:0.5914	.	438	Q14993	COJA1_HUMAN	V	438;60;12	ENSP00000316030:L438V;ENSP00000377013:L60V;ENSP00000416556:L12V	ENSP00000316030:L438V	L	+	1	0	COL19A1	70888526	0.994000	0.37717	0.625000	0.29200	0.482000	0.33219	0.671000	0.25172	0.192000	0.20272	0.655000	0.94253	CTT	COL19A1	-	NULL		0.259	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70831805	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.187	G
COL20A1	57642	genome.wustl.edu	37	20	61950537	61950537	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:61950537G>A	ENST00000358894.6	+	22	2891	c.2791G>A	c.(2791-2793)Ggg>Agg	p.G931R	COL20A1_ENST00000422202.1_Missense_Mutation_p.G938R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G931R|COL20A1_ENST00000435874.1_Missense_Mutation_p.G938R	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	931	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCCTCCTTGGGGTTCTGCT	0.662																																																	0													29.0	32.0	31.0					20																	61950537		1957	4138	6095	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2791G>A	20.37:g.61950537G>A	ENSP00000351767:p.Gly931Arg		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G931R	ENST00000358894.6	37	c.2791	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010692	0.35511	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	M	0.83603	2.65	0.43021	D	0.994573	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00222	-1.1904	10	0.87932	D	0	.	9.2643	0.37632	0.1046:0.0:0.8954:0.0	.	938;931	Q9P218-2;Q9P218	.;COKA1_HUMAN	R	931;931;938;938;34	ENSP00000351767:G931R;ENSP00000323077:G931R;ENSP00000408690:G938R;ENSP00000414753:G938R;ENSP00000410799:G34R	ENSP00000323077:G931R	G	+	1	0	COL20A1	61420982	1.000000	0.71417	0.659000	0.29680	0.016000	0.09150	7.144000	0.77357	0.781000	0.33589	-0.390000	0.06520	GGG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61950537	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.935	A
COL8A1	1295	genome.wustl.edu	37	3	99514614	99514614	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:99514614C>T	ENST00000261037.3	+	5	2249	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	COL8A1_ENST00000273342.4_Silent_p.T623T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	623	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCGAGCTAACCGCACCTTTCC	0.557																																																	0													50.0	53.0	52.0					3																	99514614		2203	4300	6503	SO:0001819	synonymous_variant	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1869C>T	3.37:g.99514614C>T			D3DN42|Q53XI6|Q96D07	Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T623	ENST00000261037.3	37	c.1869	CCDS2934.1	3																																																																																			COL8A1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.557	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	C	NM_001850		99514614	+1	no_errors	ENST00000261037	ensembl	human	known	70_37	silent	SNP	0.001	T
CPSF1	29894	genome.wustl.edu	37	8	145624707	145624707	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:145624707C>T	ENST00000349769.3	-	14	1445	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	451					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACTGGGCCTCGCTGCCGTAC	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)												0													46.0	39.0	41.0					8																	145624707		2203	4299	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1351G>A	8.37:g.145624707C>T	ENSP00000339353:p.Glu451Lys		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E451K	ENST00000349769.3	37	c.1351	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804430	0.70682	.	.	ENSG00000071894	ENST00000349769	T	0.47177	0.85	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.40543	1.245	0.80722	D	1	B	0.33748	0.423	B	0.34779	0.189	T	0.17837	-1.0356	10	0.07813	T	0.8	-8.2332	17.2513	0.87043	0.0:1.0:0.0:0.0	.	451	Q10570	CPSF1_HUMAN	K	451	ENSP00000339353:E451K	ENSP00000339353:E451K	E	-	1	0	CPSF1	145595515	1.000000	0.71417	0.996000	0.52242	0.126000	0.20510	5.465000	0.66725	2.664000	0.90586	0.455000	0.32223	GAG	CPSF1	-	NULL		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624707	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	T
CTGF	1490	genome.wustl.edu	37	6	132270589	132270589	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:132270589C>T	ENST00000367976.3	-	5	1065	c.865G>A	c.(865-867)Gac>Aac	p.D289N	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	289	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CATCGGCCGTCGGTACATACT	0.527																																					Esophageal Squamous(127;510 1660 12817 24400 38449)												0													204.0	199.0	200.0					6																	132270589		2203	4300	6503	SO:0001583	missense	1490			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.865G>A	6.37:g.132270589C>T	ENSP00000356954:p.Asp289Asn		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D289N	ENST00000367976.3	37	c.865	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173878	0.78452	.	.	ENSG00000118523	ENST00000367976	T	0.17213	2.29	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35748	-0.9776	10	0.87932	D	0	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	289	P29279	CTGF_HUMAN	N	289	ENSP00000356954:D289N	ENSP00000356954:D289N	D	-	1	0	CTGF	132312282	1.000000	0.71417	0.320000	0.25306	0.521000	0.34408	7.776000	0.85560	2.773000	0.95371	0.585000	0.79938	GAC	CTGF	-	pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C		0.527	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	C	NM_001901		132270589	-1	no_errors	ENST00000367976	ensembl	human	known	70_37	missense	SNP	1.000	T
CXADRP3	440224	genome.wustl.edu	37	18	14479194	14479194	+	lincRNA	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:14479194G>C	ENST00000581457.1	-	0	714					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		ATCTGCTCAGGAGTAGTGATA	0.557																																																	0																																												440224					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479194G>C				RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-		0.557	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	G	NR_024076		14479194	-1	no_errors	ENST00000581457	ensembl	human	known	70_37	rna	SNP	0.886	C
CXorf36	79742	genome.wustl.edu	37	X	45051184	45051184	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:45051184C>T	ENST00000398000.2	-	2	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.D104N	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	104						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						ATTTTGGAATCATCTGAGTAA	0.478																																																	0													72.0	69.0	70.0					X																	45051184		2203	4300	6503	SO:0001583	missense	79742			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.310G>A	X.37:g.45051184C>T	ENSP00000381086:p.Asp104Asn		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	NULL	p.D104N	ENST00000398000.2	37	c.310	CCDS48096.1	X	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247071	0.80024	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.37058	1.43;1.22	5.63	5.63	0.86233	.	0.124477	0.53938	D	0.000044	T	0.59211	0.2177	M	0.72118	2.19	0.40405	D	0.979686	D;D	0.76494	0.999;0.997	D;D	0.71656	0.974;0.922	T	0.59166	-0.7505	10	0.39692	T	0.17	.	16.8893	0.86083	0.0:1.0:0.0:0.0	.	104;104	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	N	104	ENSP00000381086:D104N;ENSP00000367168:D104N	ENSP00000367168:D104N	D	-	1	0	CXorf36	44936128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.066000	0.57520	2.365000	0.80145	0.600000	0.82982	GAT	CXorf36	-	NULL		0.478	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	C	NM_024689		45051184	-1	no_errors	ENST00000398000	ensembl	human	known	70_37	missense	SNP	1.000	T
DCDC1	341019	genome.wustl.edu	37	11	31329188	31329188	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:31329188C>T	ENST00000452803.1	-	4	633	c.432G>A	c.(430-432)ctG>ctA	p.L144L	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Silent_p.L144L	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	144					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGATTACCTCAGTTGACCCA	0.353																																																	0													134.0	130.0	132.0					11																	31329188		2202	4299	6501	SO:0001819	synonymous_variant	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.432G>A	11.37:g.31329188C>T			A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	superfamily_Doublecortin_dom,pfscan_Doublecortin_dom	p.L144	ENST00000452803.1	37	c.432	CCDS7872.1	11																																																																																			DCDC5	-	NULL		0.353	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000316531.1	C	NM_181807		31329188	-1	no_errors	ENST00000452803	ensembl	human	known	70_37	silent	SNP	1.000	T
DCHS2	54798	genome.wustl.edu	37	4	155242131	155242131	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:155242131G>C	ENST00000357232.4	-	14	3054	c.3055C>G	c.(3055-3057)Cat>Gat	p.H1019D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1019	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAGATAATGAGATGTCGTC	0.383																																																	0													134.0	132.0	132.0					4																	155242131		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3055C>G	4.37:g.155242131G>C	ENSP00000349768:p.His1019Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H1019D	ENST00000357232.4	37	c.3055	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953781	0.73902	.	.	ENSG00000197410	ENST00000357232	T	0.49720	0.77	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.081621	0.51477	D	0.000087	T	0.55641	0.1933	L	0.35793	1.09	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.50882	-0.8775	10	0.37606	T	0.19	.	13.0668	0.59038	0.0732:0.0:0.9268:0.0	.	1019	Q6V1P9	PCD23_HUMAN	D	1019	ENSP00000349768:H1019D	ENSP00000349768:H1019D	H	-	1	0	DCHS2	155461581	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	6.241000	0.72369	2.683000	0.91414	0.563000	0.77884	CAT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155242131	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.999	C
DDX54	79039	genome.wustl.edu	37	12	113602037	113602037	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:113602037G>A	ENST00000306014.5	-	15	1800	c.1773C>T	c.(1771-1773)cgC>cgT	p.R591R	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.R591R	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	591					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCGCTTGGCGCGCATCACCT	0.667																																																	0													39.0	35.0	37.0					12																	113602037		2201	4300	6501	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1773C>T	12.37:g.113602037G>A			Q86YT8|Q9BRZ1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R591	ENST00000306014.5	37	c.1773	CCDS31907.1	12																																																																																			DDX54	-	NULL		0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	G	NM_024072		113602037	-1	no_errors	ENST00000314045	ensembl	human	known	70_37	silent	SNP	0.027	A
DIO3OS	64150	genome.wustl.edu	37	14	102024333	102024333	+	lincRNA	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:102024333C>T	ENST00000408206.1	-	0	272					NR_031649.1				DIO3 opposite strand/antisense RNA (head to head)																		GGGTCCGCACCAGGGTTCACC	0.642																																																	0																																												64150			AF305836		14q32.31	2012-10-19	2012-10-15	2011-11-14		ENSG00000258498		"""Long non-coding RNAs"", ""-"""	20348	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 41"""	608523	"""chromosome 14 open reading frame 134"", ""deiodinase, iodothyronine, type III opposite strand"", ""DIO3 opposite strand/antisense RNA"""	C14orf134		14962667	Standard	NR_002770		Approved	NCRNA00041, DIO3-AS1	uc001yke.3		OTTHUMG00000171682		14.37:g.102024333C>T				RNA	SNP	-	NULL	ENST00000408206.1	37	NULL		14																																																																																			DIO3OS	-	-		0.642	DIO3OS-201	KNOWN	basic	miRNA	DIO3OS	HGNC	lincRNA		C	NR_002770		102024333	-1	no_errors	ENST00000554735	ensembl	human	known	70_37	rna	SNP	0.002	T
DNAH9	1770	genome.wustl.edu	37	17	11778338	11778338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:11778338C>T	ENST00000262442.4	+	53	10383	c.10315C>T	c.(10315-10317)Cag>Tag	p.Q3439*	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q3439*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3439	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCCTGGCAGAACGAGGG	0.597																																																	0													102.0	91.0	95.0					17																	11778338		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10315C>T	17.37:g.11778338C>T	ENSP00000262442:p.Gln3439*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q3439*	ENST00000262442.4	37	c.10315	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	52	18.699783	0.99909	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.51	3.53	0.40419	.	0.065495	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.9714	0.64242	0.1527:0.8473:0.0:0.0	.	.	.	.	X	3439;3439;2021	.	ENSP00000262442:Q3439X	Q	+	1	0	DNAH9	11719063	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.037000	0.49775	1.114000	0.41781	0.655000	0.94253	CAG	DNAH9	-	NULL		0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11778338	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAJC2	27000	genome.wustl.edu	37	7	102962392	102962392	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:102962392C>A	ENST00000379263.3	-	10	1320	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.R357L	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	357					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GCATGAGTTTCGAAGTTTTTG	0.353																																																	0													282.0	258.0	265.0					7																	102962392		1847	4108	5955	SO:0001583	missense	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1070G>T	7.37:g.102962392C>A	ENSP00000368565:p.Arg357Leu		A4VCI0|Q9BVX1	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R357L	ENST00000379263.3	37	c.1070	CCDS43628.1	7	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754548	0.89843	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.42900	0.96;1.12	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000002	T	0.73063	0.3539	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.72982	0.979;0.947	T	0.78107	-0.2333	10	0.56958	D	0.05	-3.967	19.6183	0.95645	0.0:1.0:0.0:0.0	.	357;357	Q99543-2;Q99543	.;DNJC2_HUMAN	L	357	ENSP00000249270:R357L;ENSP00000368565:R357L	ENSP00000249270:R357L	R	-	2	0	DNAJC2	102749628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.653000	0.90120	0.650000	0.86243	CGA	DNAJC2	-	NULL		0.353	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	C			102962392	-1	no_errors	ENST00000379263	ensembl	human	known	70_37	missense	SNP	1.000	A
DTX3L	151636	genome.wustl.edu	37	3	122284856	122284856	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:122284856C>T	ENST00000296161.4	+	2	527	c.338C>T	c.(337-339)tCt>tTt	p.S113F	PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000360356.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.S113F|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	113					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAAACACCGTCTGGTGATATG	0.443																																																	0													105.0	93.0	97.0					3																	122284856		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.338C>T	3.37:g.122284856C>T	ENSP00000296161:p.Ser113Phe		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S113F	ENST00000296161.4	37	c.338	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	1.157	-0.645084	0.03531	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.33216	1.42;1.85	4.9	-0.182	0.13287	.	1.517640	0.04147	N	0.320614	T	0.21801	0.0525	L	0.31926	0.97	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.14023	0.01;0.001	T	0.28522	-1.0041	10	0.62326	D	0.03	-20.8373	1.0302	0.01536	0.3009:0.364:0.1569:0.1782	.	113;113	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	F	113	ENSP00000296161:S113F;ENSP00000373157:S113F	ENSP00000296161:S113F	S	+	2	0	DTX3L	123767546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.389000	0.07342	-0.220000	0.09988	-0.148000	0.13756	TCT	DTX3L	-	NULL		0.443	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	C	NM_138287		122284856	+1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.000	T
ECM2	1842	genome.wustl.edu	37	9	95263075	95263075	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:95263075G>C	ENST00000344604.5	-	9	2014	c.1865C>G	c.(1864-1866)tCt>tGt	p.S622C	ECM2_ENST00000444490.2_Missense_Mutation_p.S600C|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	622					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGGTGGTATAGATTTTAAGTC	0.363																																																	0													91.0	93.0	93.0					9																	95263075		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1865C>G	9.37:g.95263075G>C	ENSP00000344758:p.Ser622Cys		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.S622C	ENST00000344604.5	37	c.1865	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396331	0.25205	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.60040	0.22;0.22	5.12	3.24	0.37175	.	0.401448	0.28052	N	0.016789	T	0.57681	0.2070	M	0.83312	2.635	0.19575	N	0.999968	B;B;B	0.22851	0.025;0.076;0.037	B;B;B	0.28139	0.076;0.086;0.046	T	0.57585	-0.7786	10	0.66056	D	0.02	.	5.6418	0.17569	0.0746:0.14:0.6403:0.1451	.	622;600;600	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	C	600;622	ENSP00000393971:S600C;ENSP00000344758:S622C	ENSP00000344758:S622C	S	-	2	0	ECM2	94302896	0.003000	0.15002	0.903000	0.35520	0.661000	0.39034	0.977000	0.29475	0.637000	0.30526	0.591000	0.81541	TCT	ECM2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.363	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	G	NM_001393		95263075	-1	no_errors	ENST00000344604	ensembl	human	known	70_37	missense	SNP	0.256	C
EFCAB9	285588	genome.wustl.edu	37	5	171621181	171621181	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:171621181G>C	ENST00000398186.4	+	1	6	c.5G>C	c.(4-6)aGa>aCa	p.R2T		NM_001171183.1	NP_001164654.1	A8MZ26	EFCB9_HUMAN	EF-hand calcium binding domain 9	2							calcium ion binding (GO:0005509)			breast(2)	2						ACTAAGATGAGACTGAAGCAA	0.408																																																	0													202.0	169.0	179.0					5																	171621181		692	1591	2283	SO:0001583	missense	285588				CCDS54946.1	5q35.1	2013-01-10			ENSG00000214360	ENSG00000214360		"""EF-hand domain containing"""	34530	protein-coding gene	gene with protein product							Standard	NM_001171183		Approved		uc021yhr.1	A8MZ26	OTTHUMG00000163271	ENST00000398186.4:c.5G>C	5.37:g.171621181G>C	ENSP00000381247:p.Arg2Thr			Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R2T	ENST00000398186.4	37	c.5	CCDS54946.1	5	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770859	0.15983	.	.	ENSG00000214360	ENST00000398186	.	.	.	5.15	3.9	0.45041	.	0.226556	0.22162	U	0.063768	T	0.27205	0.0667	N	0.22421	0.69	0.23700	N	0.997075	.	.	.	.	.	.	T	0.16100	-1.0414	7	0.72032	D	0.01	-31.8295	6.5344	0.22344	0.8756:0.0:0.1244:0.0	.	.	.	.	T	2	.	ENSP00000381247:R2T	R	+	2	0	EFCAB9	171553786	0.884000	0.30299	0.965000	0.40720	0.011000	0.07611	0.529000	0.23019	0.871000	0.35750	-0.253000	0.11424	AGA	EFCAB9	-	NULL		0.408	EFCAB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB9	HGNC	protein_coding	OTTHUMT00000372421.1	G	NM_001171183		171621181	+1	no_errors	ENST00000398186	ensembl	human	known	70_37	missense	SNP	0.993	C
EFNA1	1942	genome.wustl.edu	37	1	155100462	155100462	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:155100462C>T	ENST00000368407.3	+	1	527	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.F3F	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	3					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTATGGAGTTCCTCTGGGCCC	0.652																																																	0													41.0	45.0	44.0					1																	155100462		2203	4300	6503	SO:0001819	synonymous_variant	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.9C>T	1.37:g.155100462C>T			D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.F3	ENST00000368407.3	37	c.9	CCDS1091.1	1																																																																																			EFNA1	-	NULL		0.652	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	C	NM_004428		155100462	+1	no_errors	ENST00000368407	ensembl	human	known	70_37	silent	SNP	0.993	T
EGR3	1960	genome.wustl.edu	37	8	22548785	22548785	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:22548785G>A	ENST00000317216.2	-	2	722	c.365C>T	c.(364-366)aCg>aTg	p.T122M	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T84M|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	122					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGACGTCTGCGTGCTGAGCGC	0.647																																																	0													30.0	32.0	32.0					8																	22548785		2202	4300	6502	SO:0001583	missense	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.365C>T	8.37:g.22548785G>A	ENSP00000318057:p.Thr122Met		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T122M	ENST00000317216.2	37	c.365	CCDS6033.1	8	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879538	0.72294	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.24908	1.83;1.83	5.39	5.39	0.77823	.	0.054916	0.64402	D	0.000001	T	0.42944	0.1225	L	0.40543	1.245	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.28332	-1.0047	10	0.72032	D	0.01	-19.197	16.6495	0.85185	0.0:0.0:1.0:0.0	.	84;122	E7EW38;Q06889	.;EGR3_HUMAN	M	122;84	ENSP00000318057:T122M;ENSP00000430310:T84M	ENSP00000318057:T122M	T	-	2	0	EGR3	22604730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.826000	0.99387	2.517000	0.84864	0.462000	0.41574	ACG	EGR3	-	pfam_DUF3446		0.647	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	G	NM_004430		22548785	-1	no_errors	ENST00000317216	ensembl	human	known	70_37	missense	SNP	1.000	A
ELFN1	392617	genome.wustl.edu	37	7	1784472	1784472	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:1784472C>T	ENST00000424383.2	+	3	727	c.240C>T	c.(238-240)ctC>ctT	p.L80L	AC074389.9_ENST00000453348.1_lincRNA|ELFN1_ENST00000541472.1_Silent_p.L80L|ELFN1_ENST00000561626.1_Silent_p.L80L			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	80					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						ACGCCTCGCTCAGCCGCTTTG	0.612																																																	0													194.0	178.0	183.0					7																	1784472		692	1591	2283	SO:0001819	synonymous_variant	392617				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.240C>T	7.37:g.1784472C>T			H3BS57	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L80	ENST00000424383.2	37	c.240	CCDS59046.1	7																																																																																			ELFN1	-	NULL		0.612	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	C	NM_001128636		1784472	+1	no_errors	ENST00000424383	ensembl	human	known	70_37	silent	SNP	0.937	T
EMC4	51234	genome.wustl.edu	37	15	34517291	34517291	+	5'UTR	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:34517291G>C	ENST00000267750.4	+	0	92				EMC4_ENST00000559078.1_5'UTR|EMC4_ENST00000249209.4_5'UTR|EMC4_ENST00000557879.1_5'UTR|EMC4_ENST00000559421.1_5'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4						apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GAGAAGCATCGAGGCTATAGG	0.607																																																	0													14.0	15.0	15.0					15																	34517291		1875	3566	5441	SO:0001623	5_prime_UTR_variant	51234			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.-25G>C	15.37:g.34517291G>C			A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	RNA	SNP	-	NULL	ENST00000267750.4	37	NULL	CCDS10035.1	15																																																																																			EMC4	-	-		0.607	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC4	HGNC	protein_coding	OTTHUMT00000251568.1	G	NM_016454		34517291	+1	no_errors	ENST00000557879	ensembl	human	known	70_37	rna	SNP	0.000	C
ENO1	2023	genome.wustl.edu	37	1	8922948	8922948	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:8922948G>A	ENST00000234590.4	-	11	1352	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	411	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTCCTTACCTGAGGAGCTGGT	0.582											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)												0													67.0	60.0	62.0					1																	8922948		2203	4300	6503	SO:0001819	synonymous_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1233C>T	1.37:g.8922948G>A		653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.L411	ENST00000234590.4	37	c.1233	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.582	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	G	NM_001428		8922948	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	silent	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48802691	48802693	+	Intron	DEL	ATA	ATA	-	rs36103307|rs66656526	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	ATA	ATA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:48802691_48802693delATA	ENST00000523565.1	-	32	4127				PRKDC_ENST00000338368.3_Intron|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000314191.2_Intron			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						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)	AGGATGAAATataataataataa	0.31								Non-homologous end-joining						1150	0.229633	0.3858	0.2651	5008	,	,		14158	0.1815		0.0586	False		,,,				2504	0.2188				Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001627	intron_variant	0				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		ENST00000523565.1:c.9381+124TAT>-	8.37:g.48802700_48802702delATA			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	RNA	DEL	-	NULL	ENST00000523565.1	37	NULL		8																																																																																			AC103686.1	-	-		0.310	PRKDC-002	KNOWN	basic	processed_transcript	ENSG00000211562	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000377896.1	ATA	NM_001081640		48802693	+1	no_errors	ENST00000390136	ensembl	human	novel	70_37	rna	DEL	0.002:0.001:0.001	-
GS1-124K5.11	493754	genome.wustl.edu	37	7	65996756	65996756	+	lincRNA	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:65996756C>T	ENST00000449307.3	-	0	1410																											ctgtgtgactccagcaagtca	0.587																																																	0																																												0																															7.37:g.65996756C>T				RNA	SNP	-	NULL	ENST00000449307.3	37	NULL		7																																																																																			GS1-124K5.11	-	-		0.587	GS1-124K5.11-001	KNOWN	basic	lincRNA	ENSG00000229180	Clone_based_vega_gene	lincRNA	OTTHUMT00000345605.3	C			65996756	-1	no_errors	ENST00000449307	ensembl	human	known	70_37	rna	SNP	0.544	T
AC103564.7	0	genome.wustl.edu	37	2	132587691	132587691	+	lincRNA	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:132587691G>A	ENST00000437330.1	-	0	244																											AGCAGGTCCGGAGCGTCCGTA	0.667																																																	0																																												0																															2.37:g.132587691G>A				RNA	SNP	-	NULL	ENST00000437330.1	37	NULL		2																																																																																			AC103564.7	-	-		0.667	AC103564.7-001	KNOWN	basic	lincRNA	ENSG00000229203	Clone_based_vega_gene	lincRNA	OTTHUMT00000332207.1	G			132587691	-1	no_errors	ENST00000437330	ensembl	human	known	70_37	rna	SNP	0.998	A
SCARNA6	677772	genome.wustl.edu	37	16	21598984	21598985	+	RNA	INS	-	-	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:21598984_21598985insT	ENST00000516989.1	+	0	37_38									small Cajal body-specific RNA 6																		ccagcagcCCATTTTTTTTTTC	0.366																																																	0																																												0			AY077738		2q37.1	2013-09-05			ENSG00000251791	ENSG00000251791		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32562	non-coding RNA	RNA, small nucleolar		615641				12032087	Standard	NR_003006		Approved	U88	uc002vuf.1				16.37:g.21598994_21598994dupT				RNA	INS	-	NULL	ENST00000516989.1	37	NULL		16																																																																																			SCARNA6	-	-		0.366	SCARNA6.1-201	NOVEL	basic	snoRNA	ENSG00000252798	RFAM	snoRNA		-	NR_003006		21598985	+1	no_errors	ENST00000516989	ensembl	human	novel	70_37	rna	INS	0.242:0.246	T
LOC101929008	101929008	genome.wustl.edu	37	16	90185214	90185214	+	lincRNA	SNP	G	G	C	rs371519157		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:90185214G>C	ENST00000565965.1	-	0	354																											ccggtatattgtactgaaagc	0.428																																																	0																																												100996541																															16.37:g.90185214G>C				RNA	SNP	-	NULL	ENST00000565965.1	37	NULL		16																																																																																			FAM157C	-	-		0.428	RP11-356C4.5-001	KNOWN	basic	lincRNA	FAM157C	HGNC	lincRNA	OTTHUMT00000420875.1	G			90185214	+1	no_errors	ENST00000566043	ensembl	human	known	70_37	rna	SNP	0.006	C
FAM179B	23116	genome.wustl.edu	37	14	45432171	45432171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:45432171C>T	ENST00000361577.3	+	1	761	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FAM179B_ENST00000361462.2_Nonsense_Mutation_p.Q183*|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Nonsense_Mutation_p.Q183*|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	183										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACTTTTGCCTCAACTAGTTGT	0.537																																																	0													82.0	89.0	87.0					14																	45432171		2203	4300	6503	SO:0001587	stop_gained	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.547C>T	14.37:g.45432171C>T	ENSP00000355045:p.Gln183*		Q68D66|Q6PG27	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q183*	ENST00000361577.3	37	c.547	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799038	0.90538	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.	.	.	4.54	4.54	0.55810	.	0.000000	0.40064	N	0.001193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.925	12.6429	0.56718	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000354917:Q183X	Q	+	1	0	FAM179B	44501921	0.996000	0.38824	0.993000	0.49108	0.777000	0.43975	2.119000	0.41958	2.352000	0.79861	0.655000	0.94253	CAA	FAM179B	-	superfamily_ARM-type_fold		0.537	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	C	XM_113781		45432171	+1	no_errors	ENST00000361577	ensembl	human	known	70_37	nonsense	SNP	0.996	T
ERICH6	131831	genome.wustl.edu	37	3	150396312	150396312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:150396312G>A	ENST00000295910.6	-	10	1193	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q235*	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACAGAAAGTTGATAAGAAATT	0.279																																																	0													59.0	57.0	58.0					3																	150396312		2201	4290	6491	SO:0001587	stop_gained	131831																														ENST00000295910.6:c.1141C>T	3.37:g.150396312G>A	ENSP00000295910:p.Gln381*			Nonsense_Mutation	SNP	NULL	p.Q381*	ENST00000295910.6	37	c.1141	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	37	6.399393	0.97537	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	.	.	.	3.85	3.85	0.44370	.	0.495246	0.17058	N	0.188641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.0493	15.0213	0.71632	0.0:0.0:1.0:0.0	.	.	.	.	X	381;235;339	.	ENSP00000295910:Q381X	Q	-	1	0	FAM194A	151879002	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.923000	0.48868	2.130000	0.65690	0.557000	0.71058	CAA	FAM194A	-	NULL		0.279	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	G			150396312	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM21C	253725	genome.wustl.edu	37	10	46280987	46280987	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:46280987G>C	ENST00000336378.4	+	26	2831	c.2713G>C	c.(2713-2715)Gac>Cac	p.D905H	FAM21C_ENST00000374362.2_Missense_Mutation_p.D907H|FAM21C_ENST00000537517.1_Missense_Mutation_p.D832H|FAM21C_ENST00000540872.1_Intron|FAM21C_ENST00000359860.4_Missense_Mutation_p.D849H	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	905					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGTGAAAAAAGACCACTCTGT	0.328																																																	0													111.0	97.0	101.0					10																	46280987		1806	4072	5878	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2713G>C	10.37:g.46280987G>C	ENSP00000337541:p.Asp905His		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.D907H	ENST00000336378.4	37	c.2719		10	.	.	.	.	.	.	.	.	.	.	.	12.95	2.091187	0.36855	.	.	ENSG00000172661	ENST00000336378;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993;ENST00000374359	.	.	.	3.66	3.66	0.41972	.	0.820766	0.11680	N	0.539924	T	0.77391	0.4123	M	0.75447	2.3	0.39690	D	0.971021	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.91635	0.742;0.999;0.969;0.969	T	0.76669	-0.2874	9	0.54805	T	0.06	-2.9984	11.0336	0.47787	0.0:0.0:1.0:0.0	.	97;832;907;905	B3KMC4;F5H871;Q9Y4E1-4;Q9Y4E1	.;.;.;FA21C_HUMAN	H	905;832;907;907;849;819;97	.	ENSP00000337541:D905H	D	+	1	0	FAM21C	45600993	1.000000	0.71417	0.992000	0.48379	0.316000	0.28119	3.203000	0.51075	2.050000	0.60909	0.561000	0.74099	GAC	FAM21C	-	NULL		0.328	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		G			46280987	+1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	0.993	C
ALG1L2	644974	genome.wustl.edu	37	3	129818005	129818005	+	RNA	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:129818005C>G	ENST00000507643.1	+	0	815				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TCCAAACATTCCAGTCCAATG	0.428																																																	0																																												729375			BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129818005C>G				RNA	SNP	-	NULL	ENST00000507643.1	37	NULL		3																																																																																			FAM86HP	-	-		0.428	ALG1L2-002	KNOWN	basic	processed_transcript	FAM86HP	HGNC	pseudogene	OTTHUMT00000357289.1	C	NM_001136152		129818005	-1	no_errors	ENST00000511564	ensembl	human	putative	70_37	rna	SNP	0.011	G
FBF1	85302	genome.wustl.edu	37	17	73919313	73919313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:73919313C>A	ENST00000586717.1	-	13	1609	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	FBF1_ENST00000319129.5_Nonsense_Mutation_p.E445*|FBF1_ENST00000389570.4_Nonsense_Mutation_p.E446*			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	446					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGCAGGCCCTCAGAGGTCCCA	0.632																																																	0													13.0	15.0	14.0					17																	73919313		2034	4188	6222	SO:0001587	stop_gained	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1336G>T	17.37:g.73919313C>A	ENSP00000465132:p.Glu446*		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Nonsense_Mutation	SNP	superfamily_HRDC-like	p.E446*	ENST00000586717.1	37	c.1336		17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039902	0.93630	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	4.45	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-4.8407	8.8231	0.35039	0.0:0.5088:0.0:0.4912	.	.	.	.	X	446;446;445;459	.	ENSP00000324292:E445X	E	-	1	0	FBF1	71430908	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.756000	0.04777	-0.584000	0.05913	-0.258000	0.10820	GAG	FBF1	-	NULL		0.632	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	C	NM_001080542		73919313	-1	no_errors	ENST00000389570	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FGFRL1	53834	genome.wustl.edu	37	4	1018776	1018776	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:1018776G>A	ENST00000398484.2	+	8	1736	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	FGFRL1_ENST00000510644.1_Missense_Mutation_p.G386S|FGFRL1_ENST00000264748.6_Missense_Mutation_p.G386S|FGFRL1_ENST00000504138.1_Missense_Mutation_p.G386S|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	386					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATCCCAGCCGGCGCTGTCTT	0.701																																																	0													24.0	29.0	27.0					4																	1018776		2199	4296	6495	SO:0001583	missense	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1156G>A	4.37:g.1018776G>A	ENSP00000381498:p.Gly386Ser		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G386S	ENST00000398484.2	37	c.1156	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	g	25.5	4.646368	0.87958	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.88	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.58810	1.83	0.80722	D	1	D	0.61080	0.989	P	0.51453	0.67	T	0.67090	-0.5758	10	0.13108	T	0.6	-24.0207	12.29	0.54812	0.0824:0.0:0.9176:0.0	.	386	Q8N441	FGRL1_HUMAN	S	386;356;386;386;386	ENSP00000381498:G386S;ENSP00000425025:G386S;ENSP00000423091:G386S;ENSP00000264748:G386S	ENSP00000264748:G386S	G	+	1	0	FGFRL1	1008776	1.000000	0.71417	0.141000	0.22245	0.622000	0.37654	4.506000	0.60428	1.076000	0.40961	0.651000	0.88453	GGC	FGFRL1	-	NULL		0.701	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	G	NM_021923		1018776	+1	no_errors	ENST00000264748	ensembl	human	known	70_37	missense	SNP	0.997	A
FLCN	201163	genome.wustl.edu	37	17	17124884	17124884	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:17124884C>T	ENST00000285071.4	-	8	1292	c.838G>A	c.(838-840)Gag>Aag	p.E280K	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.E280K	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	280					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGGTATCCTCGGTCGGAGCA	0.642									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													43.0	43.0	43.0					17																	17124884		2203	4300	6503	SO:0001583	missense	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.838G>A	17.37:g.17124884C>T	ENSP00000285071:p.Glu280Lys		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.E280K	ENST00000285071.4	37	c.838	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214055	0.79352	.	.	ENSG00000154803	ENST00000285071;ENST00000389169	D;D	0.93076	-3.16;-2.97	6.08	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	M	0.61703	1.905	0.58432	D	0.999995	P;D	0.89917	0.842;1.0	B;P	0.61070	0.314;0.883	D	0.92058	0.5654	10	0.20046	T	0.44	-7.8755	12.9555	0.58425	0.0:0.8698:0.0:0.1302	.	280;280	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	K	280	ENSP00000285071:E280K;ENSP00000373821:E280K	ENSP00000285071:E280K	E	-	1	0	FLCN	17065609	1.000000	0.71417	0.649000	0.29536	0.339000	0.28857	7.157000	0.77461	0.924000	0.37069	-0.136000	0.14681	GAG	FLCN	-	NULL		0.642	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	C	NM_144606		17124884	-1	no_errors	ENST00000285071	ensembl	human	known	70_37	missense	SNP	0.998	T
FLNB	2317	genome.wustl.edu	37	3	58116576	58116576	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:58116576C>T	ENST00000295956.4	+	25	4496	c.4331C>T	c.(4330-4332)aCg>aTg	p.T1444M	FLNB_ENST00000419752.2_Missense_Mutation_p.T1275M|FLNB_ENST00000429972.2_Missense_Mutation_p.T1444M|FLNB_ENST00000490882.1_Missense_Mutation_p.T1444M|FLNB_ENST00000493452.1_Missense_Mutation_p.T1275M|FLNB_ENST00000358537.3_Missense_Mutation_p.T1444M|FLNB_ENST00000357272.4_Missense_Mutation_p.T1444M|FLNB_ENST00000348383.5_Missense_Mutation_p.T1444M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1444	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGTCCTTCACGGTGGACAGC	0.632																																																	0													32.0	31.0	31.0					3																	58116576		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4331C>T	3.37:g.58116576C>T	ENSP00000295956:p.Thr1444Met		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	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.T1444M	ENST00000295956.4	37	c.4331	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228145	0.79576	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.42	5.42	0.78866	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;0.977;1.0;0.952;1.0;1.0	D	0.93829	0.7126	10	0.87932	D	0	.	19.2155	0.93776	0.0:1.0:0.0:0.0	.	1444;1444;1275;1275;1444;1444	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1444;1444;1444;1444;1444;1444;1275;1275	ENSP00000295956:T1444M;ENSP00000420213:T1444M;ENSP00000351339:T1444M;ENSP00000415599:T1444M;ENSP00000232447:T1444M;ENSP00000349819:T1444M;ENSP00000418510:T1275M;ENSP00000414532:T1275M	ENSP00000295956:T1444M	T	+	2	0	FLNB	58091616	1.000000	0.71417	0.813000	0.32504	0.561000	0.35649	7.818000	0.86416	2.553000	0.86117	0.655000	0.94253	ACG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.632	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58116576	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	T
GALK2	2585	genome.wustl.edu	37	15	49528054	49528054	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:49528054C>A	ENST00000560031.1	+	4	580	c.273C>A	c.(271-273)ttC>ttA	p.F91L	GALK2_ENST00000543495.1_5'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.F67L|GALK2_ENST00000327171.3_Missense_Mutation_p.F80L|GALK2_ENST00000396509.2_Missense_Mutation_p.F67L|GALK2_ENST00000559454.1_Missense_Mutation_p.F67L			Q01415	GALK2_HUMAN	galactokinase 2	91					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCAGGGACTTCAGTACTAGTG	0.388																																																	0													189.0	198.0	195.0					15																	49528054		2196	4295	6491	SO:0001583	missense	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.273C>A	15.37:g.49528054C>A	ENSP00000453129:p.Phe91Leu		Q7Z4Q4	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase	p.F91L	ENST00000560031.1	37	c.273	CCDS42034.1	15	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597471	0.46318	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.81821	-1.54;-1.54	5.7	3.83	0.44106	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104365	0.64402	N	0.000002	T	0.79423	0.4443	M	0.85197	2.74	0.80722	D	1	P;P	0.46987	0.844;0.888	B;B	0.39738	0.165;0.308	T	0.78081	-0.2343	10	0.49607	T	0.09	-12.5463	7.9418	0.29963	0.1325:0.7311:0.0:0.1364	.	91;80	Q01415;Q7Z4Q4	GALK2_HUMAN;.	L	80;91;67	ENSP00000316632:F80L;ENSP00000440312:F67L	ENSP00000316632:F80L	F	+	3	2	GALK2	47315346	0.998000	0.40836	1.000000	0.80357	0.808000	0.45660	0.424000	0.21330	0.775000	0.33450	-0.233000	0.12211	TTC	GALK2	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase		0.388	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GALK2	HGNC	protein_coding	OTTHUMT00000417854.1	C			49528054	+1	no_errors	ENST00000560031	ensembl	human	known	70_37	missense	SNP	1.000	A
GAS2L3	283431	genome.wustl.edu	37	12	101012237	101012237	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:101012237G>A	ENST00000539410.1	+	7	906	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GAS2L3_ENST00000547754.1_Missense_Mutation_p.E174K|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E174K|GAS2L3_ENST00000537247.1_Missense_Mutation_p.E70K			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	174					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATACGGGGTTGAGCCACCAGT	0.393																																																	0													123.0	132.0	129.0					12																	101012237		2203	4300	6503	SO:0001583	missense	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.520G>A	12.37:g.101012237G>A	ENSP00000439672:p.Glu174Lys		B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.E174K	ENST00000539410.1	37	c.520	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.380119	0.95945	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.27	5.27	0.74061	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.78049	2.395	0.53005	D	0.999961	D	0.54964	0.969	P	0.57620	0.824	T	0.61282	-0.7094	10	0.36615	T	0.2	-16.0408	19.2547	0.93941	0.0:0.0:1.0:0.0	.	174	Q86XJ1	GA2L3_HUMAN	K	174;174;70;174	ENSP00000266754:E174K;ENSP00000448955:E174K;ENSP00000442406:E70K;ENSP00000439672:E174K	ENSP00000266754:E174K	E	+	1	0	GAS2L3	99536368	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.862000	0.92283	2.616000	0.88540	0.484000	0.47621	GAG	GAS2L3	-	superfamily_CH-domain		0.393	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	G	NM_174942		101012237	+1	no_errors	ENST00000266754	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR143	4935	genome.wustl.edu	37	X	9727434	9727434	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:9727434G>A	ENST00000467482.1	-	3	539	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GPR143_ENST00000380929.2_Silent_p.F151F			P51810	GP143_HUMAN	G protein-coupled receptor 143	131					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				ACAGCCACCAGAAGCAGGCAC	0.507																																																	0													84.0	52.0	63.0					X																	9727434		2203	4298	6501	SO:0001819	synonymous_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.393C>T	X.37:g.9727434G>A			Q6NTI7	Silent	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.F151	ENST00000467482.1	37	c.453	CCDS14134.2	X																																																																																			GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1		0.507	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	G	NM_000273		9727434	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	silent	SNP	1.000	A
GPR179	440435	genome.wustl.edu	37	17	36499400	36499400	+	Silent	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:36499400G>C	ENST00000342292.4	-	1	293	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	91					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTTGGGGGGAGCCCTGGCA	0.617																																																	0													26.0	28.0	27.0					17																	36499400		1974	4135	6109	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.273C>G	17.37:g.36499400G>C				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.L91	ENST00000342292.4	37	c.273	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36499400	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.994	C
GPT2	84706	genome.wustl.edu	37	16	46918771	46918771	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:46918771C>T	ENST00000340124.4	+	2	256	c.144C>T	c.(142-144)ctC>ctT	p.L48L	GPT2_ENST00000440783.2_5'UTR	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	48					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGCGCATCCTCACGCTGGAGT	0.736																																																	0													9.0	12.0	11.0					16																	46918771		1593	2882	4475	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.144C>T	16.37:g.46918771C>T			Q8N9E2	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L48	ENST00000340124.4	37	c.144	CCDS10725.1	16																																																																																			GPT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.736	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46918771	+1	no_errors	ENST00000340124	ensembl	human	known	70_37	silent	SNP	0.975	T
MROH2A	339766	genome.wustl.edu	37	2	234740827	234740827	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:234740827G>A	ENST00000389758.3	+	40	4905	c.4739G>A	c.(4738-4740)cGg>cAg	p.R1580Q				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1612																	TTGCAGACTCGGAAAAAGCCG	0.453																																																	0																																										SO:0001583	missense	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.4739G>A	2.37:g.234740827G>A	ENSP00000374408:p.Arg1580Gln			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1582Q	ENST00000389758.3	37	c.4745		2	.	.	.	.	.	.	.	.	.	.	g	2.867	-0.234821	0.05983	.	.	ENSG00000185038	ENST00000389758	T	0.64803	-0.12	4.8	2.48	0.30137	.	0.126884	0.36200	N	0.002726	T	0.23886	0.0578	N	0.01352	-0.895	0.19300	N	0.999979	.	.	.	.	.	.	T	0.28808	-1.0032	8	0.06494	T	0.89	.	6.0746	0.19907	0.801:0.0:0.199:0.0	.	.	.	.	Q	1582	ENSP00000374408:R1582Q	ENSP00000374408:R1582Q	R	+	2	0	HEATR7B1	234405566	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.685000	0.37659	0.967000	0.38186	-0.304000	0.09214	CGG	HEATR7B1	-	superfamily_ARM-type_fold		0.453	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	G	XM_291007		234740827	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	missense	SNP	1.000	A
HELZ2	85441	genome.wustl.edu	37	20	62193337	62193337	+	Splice_Site	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:62193337C>T	ENST00000467148.1	-	11	6599	c.6530G>A	c.(6529-6531)gGt>gAt	p.G2177D	HELZ2_ENST00000427522.2_Splice_Site_p.G1608D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2177	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTTCCCTGTACCTGCAGCCAG	0.642																																																	0													14.0	17.0	16.0					20																	62193337		2190	4282	6472	SO:0001630	splice_region_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6530-1G>A	20.37:g.62193337C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.G2177D	ENST00000467148.1	37	c.6530	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227135	0.58668	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.99711	-6.49;-6.49	4.37	4.37	0.52481	ATPase, AAA+ type, core (1);	0.198949	0.43110	D	0.000614	D	0.99840	0.9927	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96729	0.9538	10	0.72032	D	0.01	.	12.4478	0.55662	0.0:0.915:0.0:0.085	.	2177;1608	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	D	1608;2177	ENSP00000393257:G1608D;ENSP00000417401:G2177D	ENSP00000393257:G1608D	G	-	2	0	RP4-697K14.7	61663781	1.000000	0.71417	0.454000	0.27019	0.315000	0.28087	4.586000	0.60984	1.997000	0.58415	0.491000	0.48974	GGT	HELZ2	-	NULL		0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335	Missense_Mutation	62193337	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	T
HNRNPA1L2	144983	genome.wustl.edu	37	13	53217087	53217087	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:53217087G>C	ENST00000357495.2	+	1	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.D154H|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.D154H			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	154	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						TGTAACCTTTGACGACCATGA	0.423																																																	0													44.0	47.0	46.0					13																	53217087		1500	2859	4359	SO:0001583	missense	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.460G>C	13.37:g.53217087G>C	ENSP00000350090:p.Asp154His		Q5TBS2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.D154H	ENST00000357495.2	37	c.460	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294671	0.40594	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.90444	-2.67;-2.67;-2.67	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43579	U	0.000542	D	0.93255	0.7851	M	0.78916	2.43	0.32066	N	0.595119	D	0.89917	1.0	D	0.85130	0.997	D	0.90641	0.4575	10	0.87932	D	0	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	154	Q32P51	RA1L2_HUMAN	H	154	ENSP00000341285:D154H;ENSP00000381119:D154H;ENSP00000350090:D154H	ENSP00000341285:D154H	D	+	1	0	HNRNPA1L2	52115088	1.000000	0.71417	0.921000	0.36526	0.230000	0.25150	3.645000	0.54389	0.455000	0.26910	0.089000	0.15464	GAC	HNRNPA1L2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.423	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	HGNC	protein_coding	OTTHUMT00000045098.1	G	NM_001011724		53217087	+1	no_errors	ENST00000342657	ensembl	human	known	70_37	missense	SNP	1.000	C
HTR3E	285242	genome.wustl.edu	37	3	183821990	183821990	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:183821990C>T	ENST00000415389.2	+	4	766	c.300C>T	c.(298-300)atC>atT	p.I100I	HTR3E_ENST00000335304.2_Silent_p.I115I|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Silent_p.I85I|HTR3E_ENST00000436361.2_Silent_p.I100I|HTR3E_ENST00000440596.2_Silent_p.I100I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	100					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.I115I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ACCCATTTATCAGCTGGAACC	0.433																																					Melanoma(7;227 727 6634 44770)												1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											57.0	50.0	52.0					3																	183821990		2203	4300	6503	SO:0001819	synonymous_variant	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.300C>T	3.37:g.183821990C>T			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.I115	ENST00000415389.2	37	c.345	CCDS58868.1	3																																																																																			HTR3E	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel		0.433	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	C	NM_182589		183821990	+1	no_errors	ENST00000335304	ensembl	human	known	70_37	silent	SNP	0.705	T
IER3	8870	genome.wustl.edu	37	6	30711813	30711813	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:30711813G>A	ENST00000259874.5	-	2	406	c.371C>T	c.(370-372)cCt>cTt	p.P124L	IER3_ENST00000376377.2_3'UTR|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000456573.2_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000376389.3_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	124					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GGCGGACACAGGGGTGGGCGC	0.642																																																	0													33.0	38.0	36.0					6																	30711813		2200	4300	6500	SO:0001583	missense	8870			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.371C>T	6.37:g.30711813G>A	ENSP00000259874:p.Pro124Leu		Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	NULL	p.P124L	ENST00000259874.5	37	c.371	CCDS4689.1	6	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715829	0.15306	.	.	ENSG00000137331	ENST00000259874;ENST00000376382	T	0.44881	0.91	4.17	2.25	0.28309	.	1.143940	0.06362	N	0.711844	T	0.13329	0.0323	L	0.36672	1.1	0.18873	N	0.999989	B	0.26809	0.16	B	0.24848	0.056	T	0.26189	-1.0110	10	0.27082	T	0.32	.	5.3643	0.16105	0.1074:0.0:0.6967:0.1959	.	124	P46695	IEX1_HUMAN	L	124;160	ENSP00000259874:P124L	ENSP00000259874:P124L	P	-	2	0	IER3	30819792	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.779000	0.26746	0.974000	0.38366	0.456000	0.33151	CCT	IER3	-	NULL		0.642	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER3	HGNC	protein_coding	OTTHUMT00000076578.2	G			30711813	-1	no_errors	ENST00000259874	ensembl	human	known	70_37	missense	SNP	0.001	A
IFNA8	3445	genome.wustl.edu	37	9	21409527	21409527	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:21409527G>A	ENST00000380205.1	+	1	382	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	118					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GCAGCTGAATGACCTGGAGTC	0.498																																																	0													115.0	113.0	113.0					9																	21409527		2203	4300	6503	SO:0001583	missense	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.352G>A	9.37:g.21409527G>A	ENSP00000369553:p.Asp118Asn		P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D118N	ENST00000380205.1	37	c.352	CCDS6507.1	9	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714317	0.30413	.	.	ENSG00000120242	ENST00000380205	T	0.03580	3.88	3.48	-1.21	0.09524	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.098820	0.06786	N	0.786104	T	0.08179	0.0204	M	0.83953	2.67	0.09310	N	1	B	0.13594	0.008	B	0.29663	0.105	T	0.44544	-0.9321	10	0.62326	D	0.03	.	5.6294	0.17501	0.2134:0.4966:0.29:0.0	.	118	P32881	IFNA8_HUMAN	N	118	ENSP00000369553:D118N	ENSP00000369553:D118N	D	+	1	0	IFNA8	21399527	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.524000	0.06222	-0.027000	0.13873	-0.333000	0.08304	GAC	IFNA8	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.498	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	G	NM_002170		21409527	+1	no_errors	ENST00000380205	ensembl	human	known	70_37	missense	SNP	0.000	A
IFT122	55764	genome.wustl.edu	37	3	129200485	129200485	+	Missense_Mutation	SNP	A	A	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:129200485A>T	ENST00000348417.2	+	14	1678	c.1601A>T	c.(1600-1602)gAa>gTa	p.E534V	IFT122_ENST00000347300.2_Missense_Mutation_p.E475V|IFT122_ENST00000504021.1_Missense_Mutation_p.E428V|IFT122_ENST00000440957.2_Missense_Mutation_p.E325V|IFT122_ENST00000296266.3_Missense_Mutation_p.E585V|IFT122_ENST00000431818.2_Missense_Mutation_p.E384V|IFT122_ENST00000349441.2_Missense_Mutation_p.E423V|IFT122_ENST00000507564.1_Missense_Mutation_p.E526V	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	534					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTGGTAGATGAAAATGACACT	0.527																																																	0													40.0	41.0	41.0					3																	129200485		2203	4297	6500	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1601A>T	3.37:g.129200485A>T	ENSP00000324005:p.Glu534Val		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E585V	ENST00000348417.2	37	c.1754	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887950	0.91814	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;T;T;T;T;T;T	0.39997	1.65;1.05;1.05;1.65;1.65;1.65;1.05;1.65;1.65	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.102621	0.64402	D	0.000003	T	0.68742	0.3034	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.991;0.985;0.985;0.991;0.999;1.0	D;D;D;P;P;D;D;D	0.83275	0.996;0.977;0.924;0.866;0.866;0.937;0.991;0.996	T	0.74962	-0.3485	10	0.87932	D	0	-29.2827	15.6075	0.76685	1.0:0.0:0.0:0.0	.	325;526;428;374;423;475;534;585	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	V	475;585;526;475;384;428;423;534;374;325;49	ENSP00000323973:E475V;ENSP00000296266:E585V;ENSP00000425536:E526V;ENSP00000410946:E384V;ENSP00000422179:E428V;ENSP00000324165:E423V;ENSP00000324005:E534V;ENSP00000401569:E325V;ENSP00000424727:E49V	ENSP00000296266:E585V	E	+	2	0	IFT122	130683175	1.000000	0.71417	0.712000	0.30502	0.984000	0.73092	8.628000	0.90979	2.064000	0.61679	0.477000	0.44152	GAA	IFT122	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	A	NM_018262		129200485	+1	no_errors	ENST00000296266	ensembl	human	known	70_37	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	16	32926862	32926862	+	IGR	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:32926862G>A								RP11-989E6.3 (26913 upstream) : RP11-19N8.2 (36451 downstream)																							CACAGGCACAGTGAGGGGAGG	0.577																																																	0																																										SO:0001628	intergenic_variant	647187																															16.37:g.32926862G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			IGHV3OR16-6	-	-	0	0.577					IGHV3OR16-6	HGNC			G			32926862	+1	no_errors	ENST00000568775	ensembl	human	known	70_37	rna	SNP	1.000	A
INPP5B	3633	genome.wustl.edu	37	1	38339012	38339013	+	Intron	INS	-	-	A	rs66849185|rs3830229	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:38339012_38339013insA	ENST00000373026.1	-	18	2192				INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373027.1_Intron|INPP5B_ENST00000373023.2_Intron			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACAAAGAGTTTATAGTCCAA	0.376													-|-|A|insertion	1051	0.209864	0.0628	0.2104	5008	,	,		22174	0.2579		0.2813	False		,,,				2504	0.2853																0																																										SO:0001627	intron_variant	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2192-175->T	1.37:g.38339012_38339013insA			C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	RNA	INS	-	NULL	ENST00000373026.1	37	NULL		1																																																																																			INPP5B	-	-		0.376	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	NM_005540		38339013	-1	no_errors	ENST00000474758	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
ITGAE	3682	genome.wustl.edu	37	17	3655001	3655001	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:3655001G>A	ENST00000263087.4	-	15	1934	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	612					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACACACTGCCGAAGCTGGCAC	0.612																																					NSCLC(182;635 2928 8995 38788)												0													78.0	82.0	81.0					17																	3655001		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1836C>T	17.37:g.3655001G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.F612	ENST00000263087.4	37	c.1836	CCDS32531.1	17																																																																																			ITGAE	-	smart_Int_alpha_beta-p		0.612	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3655001	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.002	A
ITIH5	80760	genome.wustl.edu	37	10	7621936	7621936	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:7621936G>A	ENST00000256861.6	-	9	1278	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	ITIH5_ENST00000446830.2_Silent_p.L182L|ITIH5_ENST00000397145.2_Silent_p.L400L|ITIH5_ENST00000397146.2_Silent_p.L400L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.L186L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	400	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGAAGACGATGAGGGACACGC	0.627																																																	0													91.0	80.0	84.0					10																	7621936		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1200C>T	10.37:g.7621936G>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L400	ENST00000256861.6	37	c.1200		10																																																																																			ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.627	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7621936	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	silent	SNP	0.392	A
KAT6A	7994	genome.wustl.edu	37	8	41798407	41798407	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:41798407G>A	ENST00000396930.3	-	16	3535	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W	KAT6A_ENST00000265713.2_Missense_Mutation_p.R998W|KAT6A_ENST00000406337.1_Missense_Mutation_p.R998W	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	998					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGCTTGACCGAGGGCTTTCC	0.557																																																	0													156.0	158.0	157.0					8																	41798407		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2992C>T	8.37:g.41798407G>A	ENSP00000380136:p.Arg998Trp		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R998W	ENST00000396930.3	37	c.2992	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629923	0.28978	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60920	0.15;0.15;0.15	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000003	T	0.55752	0.1940	L	0.34521	1.04	0.50171	D	0.999851	D	0.76494	0.999	P	0.53185	0.72	T	0.59284	-0.7483	10	0.87932	D	0	-20.1173	9.9154	0.41430	0.072:0.0:0.788:0.14	.	998	Q92794	KAT6A_HUMAN	W	998;998;998;578	ENSP00000265713:R998W;ENSP00000385888:R998W;ENSP00000380136:R998W	ENSP00000265713:R998W	R	-	1	2	KAT6A	41917564	1.000000	0.71417	0.917000	0.36280	0.763000	0.43281	3.383000	0.52471	1.256000	0.44068	0.557000	0.71058	CGG	KAT6A	-	NULL		0.557	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	G	NM_006766		41798407	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	0.957	A
KHSRP	8570	genome.wustl.edu	37	19	6416894	6416894	+	Splice_Site	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:6416894C>G	ENST00000398148.3	-	13	1275		c.e13-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGGACCACTCTGCAAGACAA	0.687																																					Colon(55;593 1006 2067 9135 22980)												0													20.0	24.0	23.0					19																	6416894		1947	4122	6069	SO:0001630	splice_region_variant	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1183-1G>C	19.37:g.6416894C>G			O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	-	e13-1	ENST00000398148.3	37	c.1183-1	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509407	0.64522	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2323	0.89937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367894	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	7.220000	0.78008	2.587000	0.87381	0.655000	0.94253	.	KHSRP	-	-		0.687	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	C		Intron	6416894	-1	no_errors	ENST00000398148	ensembl	human	known	70_37	splice_site	SNP	1.000	G
KIAA0895L	653319	genome.wustl.edu	37	16	67214059	67214059	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:67214059C>T	ENST00000290881.7	-	3	1381	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R152Q|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R152Q			Q68EN5	K895L_HUMAN	KIAA0895-like	152										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GAACTTGTCTCGCTCACGGTC	0.557																																																	0													114.0	122.0	119.0					16																	67214059		2012	4184	6196	SO:0001583	missense	653319			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.455G>A	16.37:g.67214059C>T	ENSP00000290881:p.Arg152Gln		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	pfam_DUF1704	p.R152Q	ENST00000290881.7	37	c.455	CCDS42177.1	16	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910106	0.52439	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	3.97	0.46021	.	0.292531	0.32328	N	0.006258	T	0.29749	0.0743	L	0.44542	1.39	0.36384	D	0.862083	P;B	0.48350	0.909;0.343	B;B	0.30495	0.116;0.063	T	0.38672	-0.9650	9	0.41790	T	0.15	-22.2733	7.3678	0.26783	0.0:0.8085:0.0:0.1915	.	152;152	Q68EN5-2;Q68EN5	.;K895L_HUMAN	Q	152	.	ENSP00000290881:R152Q	R	-	2	0	KIAA0895L	65771560	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	2.019000	0.41001	1.296000	0.44742	0.555000	0.69702	CGA	KIAA0895L	-	NULL		0.557	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0895L	HGNC	protein_coding	OTTHUMT00000421193.4	C	NM_001040715		67214059	-1	no_errors	ENST00000290881	ensembl	human	known	70_37	missense	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37435519	37435519	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:37435519G>A	ENST00000309447.5	+	5	1431	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		195										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TACCAATGCTGAAAACGAGAA	0.328																																																	0													93.0	84.0	87.0					4																	37435519		692	1591	2283	SO:0001583	missense	57495																														ENST00000309447.5:c.583G>A	4.37:g.37435519G>A	ENSP00000309501:p.Glu195Lys		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E195K	ENST00000309447.5	37	c.583	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041342	0.55003	.	.	ENSG00000174145	ENST00000309447	T	0.81330	-1.48	5.73	5.73	0.89815	.	0.748779	0.10823	U	0.630246	T	0.70237	0.3201	L	0.27053	0.805	0.34676	D	0.724235	B	0.02656	0.0	B	0.04013	0.001	T	0.64584	-0.6373	10	0.17832	T	0.49	.	12.5678	0.56320	0.0839:0.0:0.9161:0.0	.	195	Q9ULI1	K1239_HUMAN	K	195	ENSP00000309501:E195K	ENSP00000309501:E195K	E	+	1	0	KIAA1239	37111914	0.987000	0.35691	0.936000	0.37596	0.993000	0.82548	2.231000	0.43009	2.876000	0.98609	0.644000	0.83932	GAA	KIAA1239	-	NULL		0.328	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	G			37435519	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	missense	SNP	0.998	A
KIAA1244	57221	genome.wustl.edu	37	6	138584598	138584598	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:138584598C>G	ENST00000251691.4	+	12	2144	c.1978C>G	c.(1978-1980)Cta>Gta	p.L660V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGCCCTGTCTCTAAAACTGCT	0.597																																																	0													51.0	57.0	55.0					6																	138584598		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1978C>G	6.37:g.138584598C>G	ENSP00000251691:p.Leu660Val			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.L660V	ENST00000251691.4	37	c.1978	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374769	0.42105	.	.	ENSG00000112379	ENST00000251691	T	0.22945	1.93	5.47	3.34	0.38264	SEC7-like (1);	3.607490	0.01011	N	0.003839	T	0.28797	0.0714	L	0.57536	1.79	0.26645	N	0.972212	D	0.69078	0.997	D	0.72625	0.978	T	0.25363	-1.0134	10	0.15499	T	0.54	-15.2561	9.4339	0.38626	0.0:0.7005:0.0:0.2995	.	660	Q5TH69	BIG3_HUMAN	V	660	ENSP00000251691:L660V	ENSP00000251691:L660V	L	+	1	2	KIAA1244	138626291	0.908000	0.30866	0.842000	0.33263	0.800000	0.45204	1.886000	0.39688	1.299000	0.44798	0.655000	0.94253	CTA	KIAA1244	-	superfamily_ARM-type_fold,smart_Sec7		0.597	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138584598	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	0.307	G
KIF21A	55605	genome.wustl.edu	37	12	39763563	39763563	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:39763563G>A	ENST00000361418.5	-	3	433	c.418C>T	c.(418-420)Cca>Tca	p.P140S	KIF21A_ENST00000395670.3_Missense_Mutation_p.P140S|KIF21A_ENST00000544797.2_Missense_Mutation_p.P140S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P140S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299																																																	0													68.0	67.0	67.0					12																	39763563		2202	4299	6501	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.418C>T	12.37:g.39763563G>A	ENSP00000354878:p.Pro140Ser		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.P140S	ENST00000361418.5	37	c.418	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467534	0.84533	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.48767	D	0.000175	T	0.74824	0.3767	N	0.25286	0.73	0.80722	D	1	P;P;B;P;B	0.45768	0.721;0.474;0.34;0.866;0.022	P;B;B;P;B	0.59643	0.861;0.305;0.421;0.676;0.098	T	0.78267	-0.2270	10	0.87932	D	0	.	19.1033	0.93282	0.0:0.0:1.0:0.0	.	140;140;140;140;140	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	S	140	ENSP00000354851:P140S;ENSP00000379029:P140S;ENSP00000445606:P140S;ENSP00000354878:P140S;ENSP00000438075:P140S	ENSP00000344501:P140S	P	-	1	0	KIF21A	38049830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.063000	0.76714	2.587000	0.87381	0.557000	0.71058	CCA	KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.299	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	G	NM_017641		39763563	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	A
KLC2	64837	genome.wustl.edu	37	11	66030328	66030328	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66030328C>T	ENST00000417856.1	+	5	816	c.573C>T	c.(571-573)ggC>ggT	p.G191G	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394078.1_Silent_p.G191G|KLC2_ENST00000421552.1_Silent_p.G114G|KLC2_ENST00000394067.2_Silent_p.G191G|KLC2_ENST00000316924.5_Silent_p.G191G|KLC2_ENST00000394065.2_Silent_p.G52G|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394066.2_Silent_p.G114G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	191					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCATGGGGGCTACGAGATCC	0.647																																																	0													97.0	94.0	95.0					11																	66030328		2200	4295	6495	SO:0001819	synonymous_variant	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.573C>T	11.37:g.66030328C>T			A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.G191	ENST00000417856.1	37	c.573	CCDS8130.1	11																																																																																			KLC2	-	pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light		0.647	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	C	NM_022822		66030328	+1	no_errors	ENST00000316924	ensembl	human	known	70_37	silent	SNP	1.000	T
LACRT	90070	genome.wustl.edu	37	12	55027018	55027018	+	Splice_Site	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:55027018C>A	ENST00000257867.4	-	2	112		c.e2-1		LACRT_ENST00000547511.1_Splice_Site	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin						calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GAGGCATCTTCTGCAATGGGG	0.592																																																	0													142.0	126.0	132.0					12																	55027018		2203	4300	6503	SO:0001630	splice_region_variant	90070			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.59-1G>T	12.37:g.55027018C>A				Splice_Site	SNP	-	e2-1	ENST00000257867.4	37	c.59-1	CCDS8883.1	12	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202801	0.22121	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	2.7	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0419	0.36322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LACRT	53313285	1.000000	0.71417	0.611000	0.29010	0.192000	0.23643	2.639000	0.46570	1.831000	0.53308	0.563000	0.77884	.	LACRT	-	-		0.592	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	C	NM_033277	Intron	55027018	-1	no_errors	ENST00000257867	ensembl	human	known	70_37	splice_site	SNP	0.674	A
LAT	27040	genome.wustl.edu	37	16	28997209	28997209	+	Splice_Site	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:28997209C>T	ENST00000360872.5	+	3	241	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Splice_Site_p.H55Y|LAT_ENST00000395461.3_Splice_Site_p.H91Y|LAT_ENST00000395456.2_Splice_Site_p.H55Y|LAT_ENST00000566177.1_Splice_Site_p.H55Y|LAT_ENST00000354453.4_Splice_Site_p.H55Y|LAT_ENST00000564277.1_Splice_Site_p.H55Y|LAT_ENST00000563964.1_3'UTR			O43561	LAT_HUMAN	linker for activation of T cells	55					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CAAACGGCCTCGTGAGTACAA	0.607																																																	0													108.0	117.0	114.0					16																	28997209		2197	4300	6497	SO:0001630	splice_region_variant	27040			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.163+1C>T	16.37:g.28997209C>T			B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	prints_Linker_for_activat_Tcells_prot	p.H91Y	ENST00000360872.5	37	c.271	CCDS10647.1	16	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530922	0.13127	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.11	-1.75	0.08031	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.001;0.0	T	0.27020	-1.0086	8	0.20519	T	0.43	-0.0047	4.9286	0.13905	0.0:0.6544:0.1533:0.1924	.	55;55;91;55;55	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Y	91;55;55;55;55	.	ENSP00000346441:H55Y	H	+	1	0	LAT	28904710	0.000000	0.05858	0.072000	0.20136	0.093000	0.18481	-1.616000	0.02053	-0.366000	0.08064	-0.672000	0.03802	CAC	LAT	-	NULL		0.607	LAT-001	KNOWN	basic|CCDS	protein_coding	LAT	HGNC	protein_coding	OTTHUMT00000254688.2	C		Missense_Mutation	28997209	+1	no_errors	ENST00000395461	ensembl	human	known	70_37	missense	SNP	0.163	T
LATS2	26524	genome.wustl.edu	37	13	21549039	21549039	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:21549039C>T	ENST00000382592.4	-	8	3642	c.3237G>A	c.(3235-3237)caG>caA	p.Q1079Q	LATS2_ENST00000542899.1_Silent_p.Q1079Q	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGCCTTCAGTCTGATCCACCA	0.592																																																	0													41.0	45.0	44.0					13																	21549039		2203	4300	6503	SO:0001819	synonymous_variant	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3237G>A	13.37:g.21549039C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q1079	ENST00000382592.4	37	c.3237	CCDS9294.1	13																																																																																			LATS2	-	NULL		0.592	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	C			21549039	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	silent	SNP	0.001	T
LOC653786	653786	genome.wustl.edu	37	16	22563720	22563720	+	RNA	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:22563720C>G	ENST00000550753.1	+	0	1375					NR_003676.2																						TGAGATCCTTCTGCAAGCAGC	0.428																																																	0																																												101060424																															16.37:g.22563720C>G				RNA	SNP	-	NULL	ENST00000550753.1	37	NULL		16																																																																																			RP11-368J21.3	-	-		0.428	RP11-368J21.3-001	KNOWN	basic	processed_transcript	LOC101060424	Clone_based_vega_gene	pseudogene	OTTHUMT00000409041.1	C			22563720	+1	no_errors	ENST00000550753	ensembl	human	known	70_37	rna	SNP	0.999	G
LRRC37A3	374819	genome.wustl.edu	37	17	62856739	62856739	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:62856739C>G	ENST00000584306.1	-	11	4055	c.3525G>C	c.(3523-3525)caG>caC	p.Q1175H	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q213H|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q152H|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1175H|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q293H	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1175						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTGCCTTTTCTGGATGCTCC	0.512																																																	0													87.0	92.0	90.0					17																	62856739		2203	4300	6503	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3525G>C	17.37:g.62856739C>G	ENSP00000464535:p.Gln1175His		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q1175H	ENST00000584306.1	37	c.3525	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.08	1.534344	0.27475	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.60171	1.42;1.42;0.21	2.46	0.273	0.15650	.	.	.	.	.	T	0.63260	0.2496	M	0.63843	1.955	0.09310	N	1	D;P	0.69078	0.997;0.94	P;B	0.59221	0.854;0.36	T	0.52555	-0.8560	9	0.72032	D	0.01	.	4.7126	0.12880	0.0:0.659:0.0:0.341	.	293;1175	B4DG20;O60309	.;L37A3_HUMAN	H	256;213;152;1175	ENSP00000383674:Q213H;ENSP00000335617:Q152H;ENSP00000325713:Q1175H	ENSP00000325713:Q1175H	Q	-	3	2	LRRC37A3	60287201	0.002000	0.14202	0.007000	0.13788	0.041000	0.13682	0.069000	0.14552	-0.028000	0.13850	0.298000	0.19748	CAG	LRRC37A3	-	NULL		0.512	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62856739	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.015	G
LRRC56	115399	genome.wustl.edu	37	11	544754	544754	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:544754G>A	ENST00000270115.7	+	6	800	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	100										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACTGAAGCTGAACGGCAGCC	0.701																																																	0													45.0	42.0	43.0					11																	544754		2203	4299	6502	SO:0001819	synonymous_variant	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.300G>A	11.37:g.544754G>A			Q8N3Q4	Silent	SNP	NULL	p.L100	ENST00000270115.7	37	c.300	CCDS7700.1	11																																																																																			LRRC56	-	NULL		0.701	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	G	NM_198075		544754	+1	no_errors	ENST00000270115	ensembl	human	known	70_37	silent	SNP	0.997	A
MAP3K15	389840	genome.wustl.edu	37	X	19392605	19392605	+	Silent	SNP	G	G	A	rs267606415		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:19392605G>A	ENST00000338883.4	-	20	2762	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000359173.3_Silent_p.F356F|MAP3K15_ENST00000469203.2_Silent_p.F753F|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	921							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGAGGGCTTGAAGGCAATTC	0.592																																																	0													118.0	86.0	97.0					X																	19392605		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2763C>T	X.37:g.19392605G>A			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F921	ENST00000338883.4	37	c.2763		X																																																																																			MAP3K15	-	superfamily_Kinase-like_dom		0.592	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19392605	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP3K9	4293	genome.wustl.edu	37	14	71197275	71197275	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:71197275C>T	ENST00000554752.2	-	12	3136	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R774Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R1023Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1060Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R779Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1046					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AAGTCCAGGCCGCTCCTCTAC	0.662																																					GBM(114;411 1587 13539 28235 50070)												0													46.0	43.0	44.0					14																	71197275		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3137G>A	14.37:g.71197275C>T	ENSP00000451612:p.Arg1046Gln		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.R1060Q	ENST00000554752.2	37	c.3179		14	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133654	0.56828	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.74421	-0.84;-0.84;-0.82;-0.78	4.84	4.84	0.62591	.	0.291232	0.34110	N	0.004255	T	0.70011	0.3175	N	0.08118	0	0.33641	D	0.607306	D;D;D;D	0.71674	0.99;0.993;0.998;0.985	B;P;P;P	0.59595	0.444;0.644;0.86;0.457	T	0.74038	-0.3793	10	0.23302	T	0.38	.	18.1285	0.89593	0.0:1.0:0.0:0.0	.	774;1046;1060;779	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	1046;1060;779;1023;774;762	ENSP00000451612:R1046Q;ENSP00000451038:R779Q;ENSP00000370649:R1023Q;ENSP00000451921:R774Q	ENSP00000005198:R1060Q	R	-	2	0	MAP3K9	70267028	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	3.716000	0.54904	2.524000	0.85096	0.655000	0.94253	CGG	MAP3K9	-	pirsf_MAPKKK9/10/11		0.662	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71197275	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	T
MCF2L	23263	genome.wustl.edu	37	13	113700995	113700995	+	Intron	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:113700995G>A	ENST00000375608.3	+	5	517				MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397021.1_3'UTR|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGTTCTCATCGAAGTCTTTAG	0.572																																																	0																																										SO:0001627	intron_variant	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.459+1320G>A	13.37:g.113700995G>A			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	RNA	SNP	-	NULL	ENST00000375608.3	37	NULL		13																																																																																			MCF2L	-	-		0.572	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113700995	+1	no_errors	ENST00000480321	ensembl	human	known	70_37	rna	SNP	0.000	A
MED23	9439	genome.wustl.edu	37	6	131931194	131931194	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:131931194G>A	ENST00000368068.3	-	11	1248	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	MED23_ENST00000403834.3_Missense_Mutation_p.H363Y|MED23_ENST00000539158.1_Missense_Mutation_p.H357Y|MED23_ENST00000545957.1_Missense_Mutation_p.H46Y|MED23_ENST00000368060.3_Missense_Mutation_p.H357Y|MED23_ENST00000540546.1_Missense_Mutation_p.H363Y|MED23_ENST00000354577.4_Missense_Mutation_p.H363Y|MED23_ENST00000368058.1_Missense_Mutation_p.H363Y|MED23_ENST00000368053.4_Missense_Mutation_p.H363Y	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	357					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACCTTCTGATGAAGAGAAAGC	0.423																																																	0													89.0	90.0	90.0					6																	131931194		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1069C>T	6.37:g.131931194G>A	ENSP00000357047:p.His357Tyr		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.H363Y	ENST00000368068.3	37	c.1087	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761926	0.69763	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	L	0.52126	1.63	0.80722	D	1	D;P;D;P	0.89917	1.0;0.908;0.961;0.952	D;P;P;P	0.91635	0.999;0.888;0.683;0.555	T	0.79741	-0.1676	10	0.34782	T	0.22	3.8207	18.9971	0.92818	0.0:0.0:1.0:0.0	.	46;363;357;363	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	Y	363;357;363;357;363;46;363;363;357	ENSP00000346588:H363Y;ENSP00000357047:H357Y;ENSP00000384536:H363Y;ENSP00000357039:H357Y;ENSP00000357037:H363Y;ENSP00000439977:H46Y;ENSP00000357032:H363Y;ENSP00000437818:H363Y;ENSP00000445072:H357Y	ENSP00000346588:H363Y	H	-	1	0	MED23	131972887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	CAT	MED23	-	pfam_Mediator_Med23		0.423	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131931194	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP11C	286410	genome.wustl.edu	37	X	139006318	139006318	+	Intron	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:139006318G>A	ENST00000370557.1	-	1	1055				MIR505_ENST00000384901.1_RNA			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATGCTCCAGAGAGGAAACCAG	0.463																																																	0													151.0	131.0	137.0					X																	139006318		1568	3582	5150	SO:0001627	intron_variant	574508			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000370557.1:c.27+7856C>T	X.37:g.139006318G>A			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	RNA	SNP	-	NULL	ENST00000370557.1	37	NULL		X																																																																																			MIR505	-	-		0.463	ATP11C-001	KNOWN	basic	protein_coding	MIR505	HGNC	protein_coding	OTTHUMT00000058566.1	G	NM_173694		139006318	-1	no_errors	ENST00000384901	ensembl	human	known	70_37	rna	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151876977	151876977	+	Nonsense_Mutation	SNP	G	G	A	rs372070871		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:151876977G>A	ENST00000262189.6	-	37	7602	c.7384C>T	c.(7384-7386)Cag>Tag	p.Q2462*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2462*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2462	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTCCACGCTGATCTTTTGGG	0.458																																																	0													138.0	129.0	132.0					7																	151876977		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7384C>T	7.37:g.151876977G>A	ENSP00000262189:p.Gln2462*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2462*	ENST00000262189.6	37	c.7384	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.408729	0.99833	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.17	2.22	0.28083	.	0.513886	0.15947	N	0.236894	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.974	0.47454	0.0:0.2638:0.5993:0.1369	.	.	.	.	X	2462	.	ENSP00000262189:Q2462X	Q	-	1	0	MLL3	151507910	1.000000	0.71417	0.076000	0.20297	0.977000	0.68977	3.746000	0.55127	0.232000	0.21100	0.650000	0.86243	CAG	MLL3	-	NULL		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151876977	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.804	A
MLNR	2862	genome.wustl.edu	37	13	49794659	49794659	+	Silent	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:49794659G>T	ENST00000218721.1	+	1	186	c.186G>T	c.(184-186)ctG>ctT	p.L62L	MLNR_ENST00000398307.1_Silent_p.L62L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	62					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGTGATGCTGATCGGGCGCT	0.667																																																	0													91.0	60.0	70.0					13																	49794659		2203	4300	6503	SO:0001819	synonymous_variant	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.186G>T	13.37:g.49794659G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L62	ENST00000218721.1	37	c.186	CCDS9414.1	13																																																																																			MLNR	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.667	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	G	NM_001507		49794659	+1	no_errors	ENST00000218721	ensembl	human	known	70_37	silent	SNP	0.963	T
TPTE2P2	644623	genome.wustl.edu	37	13	52832670	52832670	+	RNA	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:52832670G>C	ENST00000451298.1	-	0	617																											ATACTGCATAGATTGTAGACT	0.323																																																	0																																												100887750																															13.37:g.52832670G>C				RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-		0.323	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P5	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	G			52832670	-1	no_errors	ENST00000422308	ensembl	human	known	70_37	rna	SNP	1.000	C
MTA1	9112	genome.wustl.edu	37	14	105916512	105916512	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:105916512C>T	ENST00000331320.7	+	5	573	c.359C>T	c.(358-360)aCg>aTg	p.T120M	MTA1_ENST00000405646.1_Missense_Mutation_p.T103M|MTA1_ENST00000406191.1_Missense_Mutation_p.T120M	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	120	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CTGCCCGCCACGCACATCAGG	0.662																																																	0													53.0	63.0	60.0					14																	105916512		2203	4299	6502	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.359C>T	14.37:g.105916512C>T	ENSP00000333633:p.Thr120Met		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.T120M	ENST00000331320.7	37	c.359	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833472	0.71258	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.01	4.01	0.46588	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	U	0.000000	D	0.93854	0.8034	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.94783	0.7955	9	.	.	.	-8.7484	14.6777	0.68993	0.0:1.0:0.0:0.0	.	120	Q13330	MTA1_HUMAN	M	29;120;120;103;34	ENSP00000333633:T120M;ENSP00000385702:T120M;ENSP00000384180:T103M;ENSP00000448146:T34M	.	T	+	2	0	MTA1	104987557	1.000000	0.71417	0.550000	0.28217	0.505000	0.33919	7.505000	0.81655	1.775000	0.52247	0.313000	0.20887	ACG	MTA1	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.662	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	C			105916512	+1	no_errors	ENST00000331320	ensembl	human	known	70_37	missense	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9064866	9064866	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:9064866G>C	ENST00000397910.4	-	3	22783	c.22580C>G	c.(22579-22581)tCt>tGt	p.S7527C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7529	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7527Y(2)|p.S3160Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTAGTGTTAGATAAGGCAGG	0.483																																																	3	Substitution - Missense(3)	lung(3)											121.0	116.0	117.0					19																	9064866		1983	4169	6152	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22580C>G	19.37:g.9064866G>C	ENSP00000381008:p.Ser7527Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S7527C	ENST00000397910.4	37	c.22580	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	4.375	0.069130	0.08436	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.98	-4.02	0.04034	.	.	.	.	.	T	0.22126	0.0533	N	0.19112	0.55	.	.	.	D	0.67145	0.996	P	0.59012	0.85	T	0.20273	-1.0280	8	0.87932	D	0	.	2.7887	0.05381	0.3495:0.0:0.3002:0.3502	.	7527	B5ME49	.	C	7527	ENSP00000381008:S7527C	ENSP00000381008:S7527C	S	-	2	0	MUC16	8925866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.677000	0.05215	-0.728000	0.04882	-0.224000	0.12420	TCT	MUC16	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9064866	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MYH7	4625	genome.wustl.edu	37	14	23893302	23893302	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:23893302C>T	ENST00000355349.3	-	23	2898	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	912					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGCTGAATCTTGTTTTTGA	0.537																																																	0													167.0	137.0	147.0					14																	23893302		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2736G>A	14.37:g.23893302C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K912	ENST00000355349.3	37	c.2736	CCDS9601.1	14																																																																																			MYH7	-	NULL		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23893302	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO1B	4430	genome.wustl.edu	37	2	192255199	192255199	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:192255199C>A	ENST00000392318.3	+	18	2210	c.1963C>A	c.(1963-1965)Cat>Aat	p.H655N	MYO1B_ENST00000392316.1_Missense_Mutation_p.H655N|MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000304164.4_Missense_Mutation_p.H655N|MYO1B_ENST00000339514.4_Missense_Mutation_p.H655N	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	655	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACATGGCCTCATTGGAAAGG	0.418																																																	0													44.0	41.0	42.0					2																	192255199		2203	4300	6503	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1963C>A	2.37:g.192255199C>A	ENSP00000376132:p.His655Asn		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H655N	ENST00000392318.3	37	c.1963	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120196	0.20877	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	N	0.02345	-0.59	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.15052	0.01;0.012	T	0.68557	-0.5377	10	0.06494	T	0.89	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	655;655	O43795;O43795-2	MYO1B_HUMAN;.	N	655	ENSP00000341903:H655N;ENSP00000376132:H655N;ENSP00000306382:H655N;ENSP00000376130:H655N	ENSP00000306382:H655N	H	+	1	0	MYO1B	191963444	1.000000	0.71417	0.994000	0.49952	0.544000	0.35116	7.647000	0.83462	2.814000	0.96858	0.655000	0.94253	CAT	MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	C	NM_012223		192255199	+1	no_errors	ENST00000304164	ensembl	human	known	70_37	missense	SNP	1.000	A
NAP1L3	4675	genome.wustl.edu	37	X	92926242	92926242	+	3'UTR	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:92926242C>T	ENST00000373079.3	-	0	2325				FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_3'UTR|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3						nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GTATGCTAATCTTTTTCAAGC	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.*541G>A	X.37:g.92926242C>T			B2RCM0|O60788	RNA	SNP	-	NULL	ENST00000373079.3	37	NULL	CCDS14465.1	X																																																																																			NAP1L3	-	-		0.313	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	C	NM_004538		92926242	-1	no_errors	ENST00000475430	ensembl	human	known	70_37	rna	SNP	0.630	T
NBEA	26960	genome.wustl.edu	37	13	35747728	35747728	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:35747728G>A	ENST00000400445.3	+	27	5085	c.4551G>A	c.(4549-4551)tcG>tcA	p.S1517S	NBEA_ENST00000310336.4_Silent_p.S1517S|NBEA_ENST00000379939.2_Silent_p.S1514S|NBEA_ENST00000540320.1_Silent_p.S1517S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1517					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCAGCTTCGAAGGTAAGTA	0.383																																																	0													81.0	79.0	80.0					13																	35747728		1830	4081	5911	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4551G>A	13.37:g.35747728G>A			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S1517	ENST00000400445.3	37	c.4551	CCDS45026.1	13																																																																																			NBEA	-	NULL		0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		35747728	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	0.054	A
NDUFB2	4708	genome.wustl.edu	37	7	140395555	140395555	+	5'Flank	DEL	T	T	-	rs373239942		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:140395555delT	ENST00000476279.1	+	0	0				NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000204307.5_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TTAATTTCTCTTTTTTTTTTT	0.488																																																	0																																										SO:0001631	upstream_gene_variant	100134713			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424		7.37:g.140395555delT	Exception_encountered		Q6FGI6	RNA	DEL	-	NULL	ENST00000476279.1	37	NULL	CCDS5862.1	7																																																																																			NDUFB2-AS1	-	-		0.488	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2-AS1	HGNC	protein_coding	OTTHUMT00000348784.1	T	NM_004546		140395555	-1	no_errors	ENST00000465466	ensembl	human	known	70_37	rna	DEL	0.000	-
NID1	4811	genome.wustl.edu	37	1	236205327	236205327	+	Missense_Mutation	SNP	C	C	T	rs540809930	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:236205327C>T	ENST00000264187.6	-	4	1100	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	NID1_ENST00000366595.3_Missense_Mutation_p.E340K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	340					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGGGGCCTTTCGGTAGCTGCC	0.592													C|||	4	0.000798722	0.0	0.0	5008	,	,		19687	0.0		0.0	False		,,,				2504	0.0041																0													65.0	67.0	67.0					1																	236205327		2203	4300	6503	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1018G>A	1.37:g.236205327C>T	ENSP00000264187:p.Glu340Lys		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E340K	ENST00000264187.6	37	c.1018	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326394	0.41197	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88664	-1.76;-2.41	4.82	2.85	0.33270	.	1.044520	0.07532	N	0.912401	D	0.84674	0.5524	L	0.56769	1.78	0.09310	N	1	P;P	0.51351	0.944;0.491	B;B	0.37239	0.244;0.041	T	0.73392	-0.3997	10	0.36615	T	0.2	.	8.9807	0.35964	0.0:0.7723:0.1469:0.0808	.	340;340	P14543-2;P14543	.;NID1_HUMAN	K	340	ENSP00000264187:E340K;ENSP00000355554:E340K	ENSP00000264187:E340K	E	-	1	0	NID1	234271950	0.047000	0.20315	0.120000	0.21714	0.004000	0.04260	1.479000	0.35453	1.227000	0.43598	0.563000	0.77884	GAA	NID1	-	NULL		0.592	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236205327	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	missense	SNP	0.140	T
NPEPPS	9520	genome.wustl.edu	37	17	45608761	45608761	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:45608761C>T	ENST00000322157.4	+	1	332	c.95C>T	c.(94-96)tCc>tTc	p.S32F	NPEPPS_ENST00000544660.1_5'UTR|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S28F	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	32					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ttcagccgctcctctcgccgc	0.706																																																	0													1.0	1.0	1.0					17																	45608761		500	1354	1854	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.95C>T	17.37:g.45608761C>T	ENSP00000320324:p.Ser32Phe		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S32F	ENST00000322157.4	37	c.95	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701259	0.30142	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572	T;T	0.01359	4.98;5.01	2.16	2.16	0.27623	.	4.292930	0.01288	U	0.009936	T	0.01254	0.0041	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45991	-0.9223	10	0.48119	T	0.1	.	6.7399	0.23431	0.0:0.8436:0.0:0.1564	.	32;28;32	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	F	28;32;32	ENSP00000433287:S28F;ENSP00000320324:S32F	ENSP00000320324:S32F	S	+	2	0	NPEPPS	42963760	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.001000	0.29783	1.202000	0.43218	0.478000	0.44815	TCC	NPEPPS	-	NULL		0.706	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608761	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	0.998	T
NR1I2	8856	genome.wustl.edu	37	3	119531560	119531560	+	Missense_Mutation	SNP	G	G	A	rs373870063		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:119531560G>A	ENST00000337940.4	+	5	712	c.664G>A	c.(664-666)Gag>Aag	p.E222K	NR1I2_ENST00000466380.1_Intron|NR1I2_ENST00000393716.2_Missense_Mutation_p.E183K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	183	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CAGTGGCTGCGAGTTGCCAGA	0.587																																																	0								G	LYS/GLU,LYS/GLU,	0,4406		0,0,2203	90.0	96.0	94.0		547,664,	2.4	0.0	3		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	56,56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	183/435,222/474,	119531560	1,13005	2203	4300	6503	SO:0001583	missense	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.664G>A	3.37:g.119531560G>A	ENSP00000336528:p.Glu222Lys		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E222K	ENST00000337940.4	37	c.664	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755849	0.31046	0.0	1.16E-4	ENSG00000144852	ENST00000393716;ENST00000337940	D;D	0.95205	-3.64;-3.64	4.18	2.36	0.29203	Nuclear hormone receptor, ligand-binding (1);	0.699707	0.13405	N	0.390312	D	0.89532	0.6742	M	0.70595	2.14	0.09310	N	1	P;P	0.50528	0.936;0.886	B;B	0.32465	0.124;0.146	T	0.79688	-0.1699	10	0.22706	T	0.39	.	5.716	0.17960	0.1089:0.1978:0.6933:0.0	.	183;222	O75469;F1D8P9	NR1I2_HUMAN;.	K	183;222	ENSP00000377319:E183K;ENSP00000336528:E222K	ENSP00000336528:E222K	E	+	1	0	NR1I2	121014250	0.128000	0.22383	0.002000	0.10522	0.070000	0.16714	1.318000	0.33643	0.413000	0.25759	0.491000	0.48974	GAG	NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.587	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	G			119531560	+1	no_errors	ENST00000337940	ensembl	human	known	70_37	missense	SNP	0.008	A
NRXN3	9369	genome.wustl.edu	37	14	79434541	79434541	+	Silent	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:79434541C>A	ENST00000554719.1	+	11	2366	c.1875C>A	c.(1873-1875)gcC>gcA	p.A625A	NRXN3_ENST00000335750.5_Silent_p.A625A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	229					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTGGTCTGGCCCAAGGCATGT	0.488																																																	0													107.0	98.0	101.0					14																	79434541		2203	4300	6503	SO:0001819	synonymous_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1875C>A	14.37:g.79434541C>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.A987	ENST00000554719.1	37	c.2961	CCDS9870.1	14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	C	NM_001105250		79434541	+1	no_errors	ENST00000554738	ensembl	human	known	70_37	silent	SNP	0.997	A
NSRP1	84081	genome.wustl.edu	37	17	28512158	28512158	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:28512158G>A	ENST00000247026.5	+	7	1206	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	381					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGAaaagggagaaagataggg	0.433																																																	0													29.0	28.0	28.0					17																	28512158		2203	4300	6503	SO:0001819	synonymous_variant	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1143G>A	17.37:g.28512158G>A			Q6FI71	Silent	SNP	pfam_DUF2040	p.E381	ENST00000247026.5	37	c.1143	CCDS11255.1	17																																																																																			NSRP1	-	NULL		0.433	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28512158	+1	no_errors	ENST00000247026	ensembl	human	known	70_37	silent	SNP	0.300	A
OBSCN	84033	genome.wustl.edu	37	1	228496904	228496904	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:228496904C>T	ENST00000422127.1	+	48	12888	c.12844C>T	c.(12844-12846)Cgc>Tgc	p.R4282C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5239C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1401C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4282C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1916C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4282	Ig-like 44.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGGAGGCCCGCTGGGCTTT	0.637																																																	0													18.0	21.0	20.0					1																	228496904		1977	4170	6147	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12844C>T	1.37:g.228496904C>T	ENSP00000409493:p.Arg4282Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R4282C	ENST00000422127.1	37	c.12844	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145169	0.21288	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.37	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.075610	0.07120	N	0.843699	T	0.63558	0.2521	M	0.62088	1.915	0.09310	N	1	B;B	0.33198	0.141;0.401	B;B	0.18561	0.019;0.022	T	0.52961	-0.8505	10	0.56958	D	0.05	.	11.7834	0.52028	0.0:0.8024:0.1243:0.0733	.	4282;4282	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4282;4282;1916;1401	ENSP00000284548:R4282C;ENSP00000409493:R4282C;ENSP00000355668:R1916C;ENSP00000355670:R1401C	ENSP00000284548:R4282C	R	+	1	0	OBSCN	226563527	0.605000	0.26941	0.539000	0.28077	0.024000	0.10985	0.937000	0.28951	0.770000	0.33336	-1.134000	0.01955	CGC	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228496904	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.065	T
OR2T27	403239	genome.wustl.edu	37	1	248813536	248813536	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:248813536G>C	ENST00000344889.3	-	1	649	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTGTGTAAGAGCCCGAGAT	0.517																																																	0													34.0	9.0	18.0					1																	248813536		2155	4052	6207	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.650C>G	1.37:g.248813536G>C	ENSP00000342008:p.Ser217Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217C	ENST00000344889.3	37	c.650	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	7.111	0.576103	0.13623	.	.	ENSG00000187701	ENST00000344889	T	0.38722	1.12	3.42	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001416	T	0.73087	0.3542	H	0.98370	4.215	0.09310	N	0.999998	D	0.53745	0.962	P	0.57244	0.816	T	0.72782	-0.4189	10	0.87932	D	0	.	14.1834	0.65588	0.0:0.0:1.0:0.0	.	217	Q8NH04	O2T27_HUMAN	C	217	ENSP00000342008:S217C	ENSP00000342008:S217C	S	-	2	0	OR2T27	246880159	1.000000	0.71417	0.061000	0.19648	0.005000	0.04900	6.201000	0.72124	1.921000	0.55644	0.400000	0.26472	TCT	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	G	NM_001001824		248813536	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.402	C
OR51V1	283111	genome.wustl.edu	37	11	5220979	5220979	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:5220979G>A	ENST00000321255.1	-	1	951	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	318					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTTTTCAGAGAAAAGAGT	0.328																																																	0													51.0	53.0	53.0					11																	5220979		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.952C>T	11.37:g.5220979G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L318	ENST00000321255.1	37	c.952	CCDS31375.1	11																																																																																			OR51V1	-	NULL		0.328	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	G	NM_001004760		5220979	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	silent	SNP	0.000	A
OTOP3	347741	genome.wustl.edu	37	17	72945491	72945491	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:72945491G>C	ENST00000328801.4	+	7	1771	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	591						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGCCTGGTGGAGGTCTACCT	0.592																																																	0													50.0	47.0	48.0					17																	72945491		2203	4300	6503	SO:0001583	missense	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1771G>C	17.37:g.72945491G>C	ENSP00000328090:p.Glu591Gln			Missense_Mutation	SNP	pfam_Otopetrin	p.E591Q	ENST00000328801.4	37	c.1771	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898552	0.91962	.	.	ENSG00000182938	ENST00000328801	T	0.17854	2.25	4.43	4.43	0.53597	.	0.080088	0.48767	D	0.000167	T	0.44705	0.1306	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.52170	-0.8611	10	0.87932	D	0	-24.0593	17.0516	0.86520	0.0:0.0:1.0:0.0	.	591	Q7RTS5	OTOP3_HUMAN	Q	591	ENSP00000328090:E591Q	ENSP00000328090:E591Q	E	+	1	0	OTOP3	70457086	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.407000	0.97325	2.026000	0.59711	0.313000	0.20887	GAG	OTOP3	-	NULL		0.592	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	G	NM_178233		72945491	+1	no_errors	ENST00000328801	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDH11X	27328	genome.wustl.edu	37	X	91642930	91642930	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:91642930C>T	ENST00000373094.1	+	5	4186	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1077F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1104F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1104F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1077F|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1114F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1114					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATCCTGAATCTAGTAAGTGA	0.458																																					NSCLC(38;925 1092 2571 38200 45895)												0													29.0	25.0	26.0					X																	91642930		2200	4275	6475	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3341C>T	X.37:g.91642930C>T	ENSP00000362186:p.Ser1114Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1114F	ENST00000373094.1	37	c.3341	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752572	0.31046	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56444	0.54;0.49;0.46;0.52;0.52;0.48	3.56	1.73	0.24493	.	0.122441	0.32372	U	0.006195	T	0.53834	0.1821	L	0.46157	1.445	0.25207	N	0.990008	B;P;P;P;P	0.40032	0.391;0.699;0.699;0.699;0.574	P;P;P;P;P	0.51582	0.674;0.674;0.674;0.674;0.534	T	0.49495	-0.8934	10	0.87932	D	0	.	7.4193	0.27063	0.0:0.736:0.1636:0.1004	.	1077;1104;1114;1104;1114	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	F	1114;1104;1077;1104;1114;1114;1077	ENSP00000362186:S1114F;ENSP00000362189:S1104F;ENSP00000362180:S1077F;ENSP00000355105:S1104F;ENSP00000384758:S1114F;ENSP00000298274:S1077F	ENSP00000298274:S1077F	S	+	2	0	PCDH11X	91529586	1.000000	0.71417	0.840000	0.33206	0.361000	0.29550	3.323000	0.52014	-0.019000	0.14055	-0.336000	0.08194	TCT	PCDH11X	-	NULL		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91642930	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.998	T
PCDHGB2	56103	genome.wustl.edu	37	5	140739720	140739720	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:140739720G>A	ENST00000522605.1	+	1	18	c.18G>A	c.(16-18)ggG>ggA	p.G6G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTCAGGGAGGTGCGGGC	0.572											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32.0	40.0	37.0					5																	140739720		1992	4168	6160	SO:0001819	synonymous_variant	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.18G>A	5.37:g.140739720G>A		1658	Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G6	ENST00000522605.1	37	c.18	CCDS54924.1	5																																																																																			PCDHGB2	-	NULL		0.572	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	G	NM_018923		140739720	+1	no_errors	ENST00000522605	ensembl	human	known	70_37	silent	SNP	0.000	A
PDE6B	5158	genome.wustl.edu	37	4	661666	661666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:661666G>T	ENST00000496514.1	+	21	2395	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	PDE6B_ENST00000429163.2_Nonsense_Mutation_p.E513*|PDE6B_ENST00000255622.6_Nonsense_Mutation_p.E792*			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	792					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TTTCCACGAAGAGATCCTGCC	0.547																																					GBM(71;463 1194 9848 25922 46834)												0													173.0	170.0	171.0					4																	661666		2203	4300	6503	SO:0001587	stop_gained	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2374G>T	4.37:g.661666G>T	ENSP00000420295:p.Glu792*		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E792*	ENST00000496514.1	37	c.2374	CCDS33932.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	40|40	8.356812|8.356812	0.98774|0.98774	.|.	.|.	ENSG00000133256|ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163|ENST00000461490	.|.	.|.	.|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.053209|.	0.64402|.	D|.	0.000001|.	.|T	.|0.66257	.|0.2771	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70941	.|-0.4735	.|3	0.22109|.	T|.	0.4|.	.|.	15.4686|15.4686	0.75422|0.75422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	792;792;513|72	.|.	ENSP00000255622:E792X|.	E|K	+|+	1|3	0|2	PDE6B|PDE6B	651666|651666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.138000|3.138000	0.50570|0.50570	2.324000|2.324000	0.78689|0.78689	0.651000|0.651000	0.88453|0.88453	GAG|AAG	PDE6B	-	pfam_PDEase_catalytic_dom		0.547	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		661666	+1	no_errors	ENST00000496514	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PDZD7	79955	genome.wustl.edu	37	10	102771481	102771481	+	IGR	SNP	C	C	G	rs555696256		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:102771481C>G								LZTS2 (3888 upstream) : PDZD7 (5607 downstream)																							GCTTGGGTGGCGTGTCCTGCC	0.657											OREG0020452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	79955																															10.37:g.102771481C>G		1369		RNA	SNP	-	NULL		37	NULL		10																																																																																			PDZD7	-	-	0	0.657					PDZD7	HGNC			C			102771481	-1	no_errors	ENST00000474125	ensembl	human	known	70_37	rna	SNP	0.023	G
PHPT1	29085	genome.wustl.edu	37	9	139743790	139743790	+	5'UTR	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139743790G>A	ENST00000247665.10	+	0	245				PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_5'UTR|PHPT1_ENST00000545326.1_5'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGCATTCCCCGACGGGATTGG	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.-93G>A	9.37:g.139743790G>A			B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	-	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			PHPT1	-	-		0.677	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	G	NM_014172		139743790	+1	no_errors	ENST00000492540	ensembl	human	known	70_37	rna	SNP	0.000	A
PHPT1	29085	genome.wustl.edu	37	9	139743846	139743846	+	5'UTR	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139743846G>A	ENST00000247665.10	+	0	301				PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_5'UTR|MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_5'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGCGGCCCCCGGGTCGGGTGG	0.662																																																	0													39.0	45.0	43.0					9																	139743846		2196	4300	6496	SO:0001623	5_prime_UTR_variant	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.-37G>A	9.37:g.139743846G>A			B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	-	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			PHPT1	-	-		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	G	NM_014172		139743846	+1	no_errors	ENST00000492540	ensembl	human	known	70_37	rna	SNP	0.017	A
PHTF1	10745	genome.wustl.edu	37	1	114300327	114300327	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:114300327C>G	ENST00000369604.1	-	3	579	c.96G>C	c.(94-96)caG>caC	p.Q32H	PHTF1_ENST00000369598.1_Missense_Mutation_p.Q32H|PHTF1_ENST00000357783.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000447664.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000369596.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000393357.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000369600.1_Missense_Mutation_p.Q32H			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	32					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTTAATCTGAGTCTGTT	0.378																																																	0													146.0	127.0	133.0					1																	114300327		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.96G>C	1.37:g.114300327C>G	ENSP00000358617:p.Gln32His		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.Q32H	ENST00000369604.1	37	c.96	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179738	0.78564	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664;ENST00000446739	.	.	.	5.07	3.2	0.36748	Transcription factor homeodomain, male germ-cell (1);	0.193170	0.44483	D	0.000458	T	0.39489	0.1080	L	0.36672	1.1	0.32975	D	0.522802	P;D;D;D	0.76494	0.942;0.973;0.999;0.973	P;P;D;P	0.64595	0.785;0.837;0.927;0.864	T	0.39881	-0.9592	9	0.59425	D	0.04	-11.6879	8.5152	0.33242	0.0:0.8224:0.0:0.1776	.	32;32;32;32	F5H7M5;Q9UMS5;B4DGS8;Q9UMS5-2	.;PHTF1_HUMAN;.;.	H	32	.	ENSP00000350428:Q32H	Q	-	3	2	PHTF1	114101850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.202000	0.32271	1.125000	0.41998	0.655000	0.94253	CAG	PHTF1	-	pfam_TF_homeodomain_male		0.378	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114300327	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	missense	SNP	1.000	G
PKHD1	5314	genome.wustl.edu	37	6	51613066	51613066	+	Silent	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:51613066C>A	ENST00000371117.3	-	58	9623	c.9348G>T	c.(9346-9348)ctG>ctT	p.L3116L	PKHD1_ENST00000340994.4_Silent_p.L3116L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3116					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGACCAAAGCAGTTCACAAG	0.483																																																	0			GRCh37	CD054975	PKHD1	D							241.0	228.0	232.0					6																	51613066		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9348G>T	6.37:g.51613066C>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L3116	ENST00000371117.3	37	c.9348	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51613066	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.000	A
PKIA	5569	genome.wustl.edu	37	8	79514021	79514021	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:79514021G>A	ENST00000396418.2	+	4	682	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PKIA_ENST00000518467.1_Missense_Mutation_p.E66K|PKIA_ENST00000352966.5_Missense_Mutation_p.E66K	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	66					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						ACAAAGTGGGGAAGCCCAGGG	0.408																																																	0													126.0	113.0	117.0					8																	79514021		2203	4300	6503	SO:0001583	missense	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.196G>A	8.37:g.79514021G>A	ENSP00000379696:p.Glu66Lys		P04541|Q6IAV2	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.E66K	ENST00000396418.2	37	c.196	CCDS6222.1	8	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340881	0.41498	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.14	5.14	0.70334	.	0.136505	0.46442	D	0.000284	T	0.62380	0.2423	.	.	.	0.51233	D	0.99991	P	0.45212	0.853	P	0.47673	0.554	T	0.61317	-0.7087	7	.	.	.	.	18.6139	0.91295	0.0:0.0:1.0:0.0	.	66	P61925	IPKA_HUMAN	K	66	.	.	E	+	1	0	PKIA	79676576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.050000	0.64251	2.395000	0.81488	0.655000	0.94253	GAA	PKIA	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI		0.408	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIA	HGNC	protein_coding	OTTHUMT00000379420.1	G			79514021	+1	no_errors	ENST00000352966	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCB1	23236	genome.wustl.edu	37	20	8637834	8637834	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:8637834G>A	ENST00000338037.6	+	8	625	c.598G>A	c.(598-600)Gat>Aat	p.D200N	PLCB1_ENST00000378641.3_Missense_Mutation_p.D200N|PLCB1_ENST00000378637.2_Missense_Mutation_p.D200N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	200					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCCAGAATGATTCAATACC	0.398																																																	0													98.0	99.0	99.0					20																	8637834		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.598G>A	20.37:g.8637834G>A	ENSP00000338185:p.Asp200Asn		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D200N	ENST00000338037.6	37	c.598	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.144976	0.94603	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.60672	0.17;0.17;0.17	5.43	5.43	0.79202	.	0.146987	0.64402	D	0.000017	T	0.79997	0.4543	M	0.86864	2.845	0.80722	D	1	B;D	0.71674	0.224;0.998	B;D	0.68192	0.052;0.956	T	0.83099	-0.0129	10	0.87932	D	0	.	19.6091	0.95594	0.0:0.0:1.0:0.0	.	200;200	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	200;200;200;120;120	ENSP00000367908:D200N;ENSP00000338185:D200N;ENSP00000367904:D200N	ENSP00000338185:D200N	D	+	1	0	PLCB1	8585834	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.443000	0.97568	2.705000	0.92388	0.650000	0.86243	GAT	PLCB1	-	pirsf_PLC-beta		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8637834	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A
PNCK	139728	genome.wustl.edu	37	X	152938100	152938100	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:152938100C>T	ENST00000370150.1	-	3	299	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	PNCK_ENST00000370145.4_Missense_Mutation_p.V58M|PNCK_ENST00000393831.2_Missense_Mutation_p.V41M|PNCK_ENST00000447676.2_Missense_Mutation_p.V124M|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.V41M|PNCK_ENST00000370142.1_Missense_Mutation_p.V41M			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGCCACGAGGTGTGCG	0.697																																																	0													37.0	36.0	36.0					X																	152938100		2202	4298	6500	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.121G>A	X.37:g.152938100C>T	ENSP00000359169:p.Val41Met		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	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.V124M	ENST00000370150.1	37	c.370		X	.	.	.	.	.	.	.	.	.	.	c	16.27	3.077033	0.55753	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000419804;ENST00000458354;ENST00000418241;ENST00000434652;ENST00000425526;ENST00000423545	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;0.54;0.54;-0.64;-0.64;0.54;0.54	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	U	0.000274	D	0.85991	0.5826	M	0.88031	2.925	0.50313	D	0.999868	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.998;0.999;0.999	D	0.89071	0.3469	10	0.72032	D	0.01	-25.6539	15.0254	0.71667	0.0:1.0:0.0:0.0	.	68;124;58;41	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	M	41;41;41;41;58;124;41;41;41;41;41;41;41;41	ENSP00000340586:V41M;ENSP00000359169:V41M;ENSP00000377417:V41M;ENSP00000359161:V41M;ENSP00000359164:V58M;ENSP00000405950:V124M;ENSP00000415770:V41M;ENSP00000391772:V41M;ENSP00000400671:V41M;ENSP00000401542:V41M;ENSP00000411267:V41M;ENSP00000396128:V41M;ENSP00000407173:V41M;ENSP00000395360:V41M	ENSP00000340586:V41M	V	-	1	0	PNCK	152591294	1.000000	0.71417	0.476000	0.27291	0.580000	0.36256	4.671000	0.61590	1.776000	0.52262	0.431000	0.28591	GTG	PNCK	-	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		0.697	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	C	NM_198452		152938100	-1	no_errors	ENST00000447676	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR1A	25885	genome.wustl.edu	37	2	86259502	86259502	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:86259502C>G	ENST00000263857.6	-	29	4543	c.4165G>C	c.(4165-4167)Gag>Cag	p.E1389Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1389Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1389					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCCTCCTGCTCTCCCTGTGGT	0.537																																																	0													141.0	148.0	146.0					2																	86259502		2100	4220	6320	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4165G>C	2.37:g.86259502C>G	ENSP00000263857:p.Glu1389Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1389Q	ENST00000263857.6	37	c.4165	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	8.759	0.923045	0.18056	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67345	-0.26;3.3	4.21	3.32	0.38043	RNA polymerase Rpb1, domain 5 (1);	1.177410	0.05873	N	0.625014	T	0.51007	0.1649	N	0.25332	0.735	0.26734	N	0.97052	B	0.06786	0.001	B	0.10450	0.005	T	0.37709	-0.9694	10	0.15066	T	0.55	-24.0561	6.3892	0.21577	0.0:0.6875:0.0:0.3125	.	1389	O95602	RPA1_HUMAN	Q	1389	ENSP00000263857:E1389Q;ENSP00000386300:E1389Q	ENSP00000263857:E1389Q	E	-	1	0	POLR1A	86113013	0.503000	0.26115	1.000000	0.80357	0.633000	0.38033	1.477000	0.35431	2.311000	0.77944	0.462000	0.41574	GAG	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86259502	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.996	G
POLR1A	25885	genome.wustl.edu	37	2	86260836	86260836	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:86260836C>T	ENST00000263857.6	-	28	4487	c.4109G>A	c.(4108-4110)cGa>cAa	p.R1370Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1370Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1370					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGTAGCTCTTCGAGTGTTTAC	0.483																																																	0													88.0	91.0	90.0					2																	86260836		1908	4132	6040	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4109G>A	2.37:g.86260836C>T	ENSP00000263857:p.Arg1370Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R1370Q	ENST00000263857.6	37	c.4109	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354320	0.61293	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66099	-0.19;-0.19	5.38	5.38	0.77491	RNA polymerase Rpb1, domain 5 (1);	0.122424	0.52532	D	0.000062	T	0.73353	0.3576	L	0.51422	1.61	0.32864	D	0.508281	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.73808	-0.3866	10	0.21014	T	0.42	-15.8204	16.8984	0.86107	0.0:1.0:0.0:0.0	.	736;1370	B7Z8X7;O95602	.;RPA1_HUMAN	Q	1370	ENSP00000263857:R1370Q;ENSP00000386300:R1370Q	ENSP00000263857:R1370Q	R	-	2	0	POLR1A	86114347	0.566000	0.26618	0.081000	0.20488	0.689000	0.40095	2.518000	0.45537	2.518000	0.84900	0.561000	0.74099	CGA	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.483	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86260836	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.299	T
POM121C	100101267	genome.wustl.edu	37	7	75050940	75050940	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:75050940G>A	ENST00000257665.5	-	11	3320	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.F865F			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1107	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTCCAAAGCTGAAAGCTCCGG	0.657																																																	0													11.0	16.0	14.0					7																	75050940		2090	4150	6240	SO:0001819	synonymous_variant	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3321C>T	7.37:g.75050940G>A			O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.F1107	ENST00000257665.5	37	c.3321		7																																																																																			POM121C	-	NULL		0.657	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	HGNC	protein_coding	OTTHUMT00000343919.2	G	NM_001099415		75050940	-1	no_errors	ENST00000257665	ensembl	human	known	70_37	silent	SNP	0.188	A
POU4F3	5459	genome.wustl.edu	37	5	145718752	145718752	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:145718752C>G	ENST00000230732.4	+	1	166	c.77C>G	c.(76-78)tCt>tGt	p.S26C	CTC-359M8.1_ENST00000515598.1_RNA|RBM27_ENST00000506502.1_Silent_p.L1011L	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	26					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCTGCACTCTGGCTCCGAG	0.572																																																	0													107.0	95.0	99.0					5																	145718752		2203	4300	6503	SO:0001583	missense	5459			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.77C>G	5.37:g.145718752C>G	ENSP00000230732:p.Ser26Cys		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S26C	ENST00000230732.4	37	c.77	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617666	0.66787	.	.	ENSG00000091010	ENST00000230732	T	0.41400	1.0	4.55	4.55	0.56014	.	0.076469	0.56097	D	0.000040	T	0.49541	0.1563	M	0.72479	2.2	0.53005	D	0.999964	D	0.57257	0.979	P	0.46320	0.512	T	0.59134	-0.7511	10	0.62326	D	0.03	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	26	Q15319	PO4F3_HUMAN	C	26	ENSP00000230732:S26C	ENSP00000230732:S26C	S	+	2	0	POU4F3	145698945	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.225000	0.78051	2.349000	0.79799	0.462000	0.41574	TCT	POU4F3	-	NULL		0.572	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	C	NM_002700		145718752	+1	no_errors	ENST00000230732	ensembl	human	known	70_37	missense	SNP	1.000	G
PPFIA4	8497	genome.wustl.edu	37	1	203008214	203008214	+	Silent	SNP	C	C	T	rs375205149		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:203008214C>T	ENST00000447715.2	+	6	519	c.78C>T	c.(76-78)ttC>ttT	p.F26F	PPFIA4_ENST00000367240.2_Silent_p.F26F|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	26					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACGCCAACTTCGAGCAGCTGA	0.627											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		1,1749		0,1,874	14.0	13.0	14.0		210	-0.8	1.0	1		14	0,3980		0,0,1990	no	coding-synonymous	LOC100507405	XM_003118503.1		0,1,2864	TT,TC,CC		0.0,0.0571,0.0175		70/440	203008214	1,5729	875	1990	2865	SO:0001819	synonymous_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.78C>T	1.37:g.203008214C>T		2133	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM	p.F26	ENST00000447715.2	37	c.78		1																																																																																			PPFIA4	-	NULL		0.627	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	PPFIA4	HGNC	protein_coding	OTTHUMT00000462949.1	C	NM_015053		203008214	+1	no_errors	ENST00000367240	ensembl	human	novel	70_37	silent	SNP	0.974	T
PPP2R2C	5522	genome.wustl.edu	37	4	6374374	6374374	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:6374374G>C	ENST00000382599.4	-	5	717	c.501C>G	c.(499-501)atC>atG	p.I167M	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I167M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I150M|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I160M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I160M			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I167I(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CATTGGCAAAGATCCTCCGAG	0.592																																																	1	Substitution - coding silent(1)	ovary(1)											213.0	176.0	188.0					4																	6374374		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.501C>G	4.37:g.6374374G>C	ENSP00000372042:p.Ile167Met		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.I167M	ENST00000382599.4	37	c.501		4	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047967	0.55110	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.15	3.28	0.37604	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.259965	0.37053	N	0.002265	T	0.40595	0.1123	M	0.75884	2.315	0.38793	D	0.955028	B;B;B;B;P	0.37985	0.217;0.282;0.038;0.217;0.613	P;B;B;B;P	0.44897	0.463;0.192;0.114;0.339;0.463	T	0.47018	-0.9149	10	0.66056	D	0.02	-27.6013	10.6999	0.45920	0.0:0.0:0.6542:0.3458	.	160;263;167;150;167	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	M	167;160;150;167;160	ENSP00000335083:I167M;ENSP00000423649:I160M;ENSP00000422374:I150M;ENSP00000372042:I167M;ENSP00000425247:I160M	ENSP00000335083:I167M	I	-	3	3	PPP2R2C	6425275	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.990000	0.29642	1.059000	0.40554	0.313000	0.20887	ATC	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55		0.592	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6374374	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKCA	5578	genome.wustl.edu	37	17	64299116	64299116	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:64299116C>T	ENST00000413366.3	+	1	173	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	49					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGCCCACCTTCTGCAGCCACT	0.682																																																	0													92.0	86.0	88.0					17																	64299116		2203	4300	6503	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.147C>T	17.37:g.64299116C>T			B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.F49	ENST00000413366.3	37	c.147	CCDS11664.1	17																																																																																			PRKCA	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.682	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	C			64299116	+1	no_errors	ENST00000413366	ensembl	human	known	70_37	silent	SNP	1.000	T
PRODH	5625	genome.wustl.edu	37	22	18910643	18910643	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:18910643C>T	ENST00000357068.6	-	5	982	c.717G>A	c.(715-717)ggG>ggA	p.G239G	PRODH_ENST00000420436.1_Silent_p.G131G|PRODH_ENST00000334029.2_Silent_p.G131G	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	239					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ACTGGGGTCTCCCCAGTGCTG	0.552																																																	0													116.0	118.0	117.0					22																	18910643		2203	4300	6503	SO:0001819	synonymous_variant	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.717G>A	22.37:g.18910643C>T			A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	pfam_Proline_DH	p.G239	ENST00000357068.6	37	c.717	CCDS13754.1	22																																																																																			PRODH	-	pfam_Proline_DH		0.552	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	C	NM_016335		18910643	-1	no_errors	ENST00000357068	ensembl	human	known	70_37	silent	SNP	0.997	T
PRODH	5625	genome.wustl.edu	37	22	18910678	18910678	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:18910678C>T	ENST00000357068.6	-	5	947	c.682G>A	c.(682-684)Gac>Aac	p.D228N	PRODH_ENST00000420436.1_Missense_Mutation_p.D120N|PRODH_ENST00000334029.2_Missense_Mutation_p.D120N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	228					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ATGAAGCCGTCATCGCTGACT	0.587																																																	0													81.0	81.0	81.0					22																	18910678		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.682G>A	22.37:g.18910678C>T	ENSP00000349577:p.Asp228Asn		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	pfam_Proline_DH	p.D228N	ENST00000357068.6	37	c.682	CCDS13754.1	22	.	.	.	.	.	.	.	.	.	.	.	13.80	2.346146	0.41599	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.80824	-1.42;-1.42	4.98	3.95	0.45737	Proline dehydrogenase (1);	0.106572	0.64402	D	0.000009	T	0.74283	0.3696	L	0.57536	1.79	0.38983	D	0.958981	B;B;B	0.26635	0.042;0.155;0.052	B;B;B	0.28232	0.081;0.085;0.087	T	0.71203	-0.4662	10	0.30854	T	0.27	-15.3088	8.6691	0.34138	0.0:0.8965:0.0:0.1035	.	144;228;120	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	228;21;69	ENSP00000349577:D228N;ENSP00000396806:D69N	ENSP00000334726:D120N	D	-	1	0	PRODH	17290678	0.994000	0.37717	0.065000	0.19835	0.046000	0.14306	4.112000	0.57845	2.510000	0.84645	0.550000	0.68814	GAC	PRODH	-	pfam_Proline_DH		0.587	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	C	NM_016335		18910678	-1	no_errors	ENST00000357068	ensembl	human	known	70_37	missense	SNP	0.828	T
PROX2	283571	genome.wustl.edu	37	14	75329296	75329296	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:75329296C>T	ENST00000445876.1	-	1	1241	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Silent_p.S414S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	414					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CCATCTTCACCGAGGGAAGAA	0.507																																																	0													97.0	99.0	98.0					14																	75329296		2004	4168	6172	SO:0001819	synonymous_variant	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1242G>A	14.37:g.75329296C>T			C9J5W1|Q8N9Q3	Silent	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S414	ENST00000445876.1	37	c.1242	CCDS45136.2	14																																																																																			PROX2	-	NULL		0.507	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		C			75329296	-1	no_errors	ENST00000445876	ensembl	human	known	70_37	silent	SNP	0.000	T
PUM1	9698	genome.wustl.edu	37	1	31438980	31438980	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:31438980G>A	ENST00000257075.5	-	13	2028	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	PUM1_ENST00000373747.3_Silent_p.F646F|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Silent_p.F619F|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000373742.2_Silent_p.F586F|PUM1_ENST00000426105.2_Silent_p.F645F|PUM1_ENST00000423018.2_Silent_p.F501F|PUM1_ENST00000373741.4_Silent_p.F681F|PUM1_ENST00000424085.2_Silent_p.F403F	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	645	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTGCCGTAGAAAGAACTGG	0.542																																																	0													149.0	143.0	145.0					1																	31438980		2203	4300	6503	SO:0001819	synonymous_variant	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1935C>T	1.37:g.31438980G>A			A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.F645	ENST00000257075.5	37	c.1935	CCDS338.1	1																																																																																			PUM1	-	NULL		0.542	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31438980	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	silent	SNP	1.000	A
PUM1	9698	genome.wustl.edu	37	1	31439030	31439030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:31439030G>A	ENST00000257075.5	-	13	1978	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q630*|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q603*|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q570*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q629*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q485*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q665*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q387*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	629					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ggctggggctgaggctgCTGT	0.537																																																	0													112.0	109.0	110.0					1																	31439030		2203	4300	6503	SO:0001587	stop_gained	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1885C>T	1.37:g.31439030G>A	ENSP00000257075:p.Gln629*		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q629*	ENST00000257075.5	37	c.1885	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.884649|6.884649	0.97908|0.97908	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.054100|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80341	.|0.4605	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.49607|.	T|.	0.09|.	-4.9368|-4.9368	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	387;629;630;367;629;603;665;485;570|646;340	.|.	ENSP00000257075:Q629X|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31211617|31211617	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|TCA	PUM1	-	NULL		0.537	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31439030	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RAB43	339122	genome.wustl.edu	37	3	128810189	128810189	+	Splice_Site	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:128810189C>A	ENST00000315150.5	-	3	689	c.389G>T	c.(388-390)gGg>gTg	p.G130V	RAB43_ENST00000393304.1_Splice_Site_p.G130V|RAB43_ENST00000476465.1_3'UTR|RAB43_ENST00000393307.1_Splice_Site_p.G130V|RAB43_ENST00000393305.1_Splice_Site_p.G130V|RAB43_ENST00000393308.1_Splice_Site_p.G130V|ISY1-RAB43_ENST00000418265.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	130					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGACTTGTTCCCTGCGGAGGA	0.637																																																	0													31.0	29.0	30.0					3																	128810189		2203	4300	6503	SO:0001630	splice_region_variant	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.389-1G>T	3.37:g.128810189C>A			A8K4P9|E9PBQ0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G130V	ENST00000315150.5	37	c.389	CCDS33850.1	3	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609137	0.66558	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	4.98	4.98	0.66077	Small GTP-binding protein domain (1);	.	.	.	.	D	0.95146	0.8427	H	0.98446	4.235	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	D	0.97008	0.9734	9	0.87932	D	0	.	16.0867	0.81060	0.0:1.0:0.0:0.0	.	130	Q86YS6	RAB43_HUMAN	V	130	ENSP00000319781:G130V;ENSP00000376981:G130V;ENSP00000376985:G130V;ENSP00000376984:G130V;ENSP00000376982:G130V	ENSP00000319781:G130V	G	-	2	0	RAB43	130292879	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	7.709000	0.84645	2.466000	0.83321	0.491000	0.48974	GGG	RAB43	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.637	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB43	HGNC	protein_coding	OTTHUMT00000267849.1	C	XM_290714	Missense_Mutation	128810189	-1	no_errors	ENST00000315150	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD23B	5887	genome.wustl.edu	37	9	110086276	110086276	+	Missense_Mutation	SNP	G	G	A	rs140228782		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:110086276G>A	ENST00000358015.3	+	8	1274	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	RAD23B_ENST00000416373.2_Missense_Mutation_p.R236Q	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	308	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGATAGGTCGAGAGAATCCT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																																									0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	132.0	137.0		923	5.5	1.0	9	dbSNP_134	137	0,8600		0,0,4300	no	missense	RAD23B	NM_002874.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	308/410	110086276	1,13005	2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.923G>A	9.37:g.110086276G>A	ENSP00000350708:p.Arg308Gln		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.R308Q	ENST00000358015.3	37	c.923	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958518	0.53400	2.27E-4	0.0	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.16324	2.37;2.35	5.51	5.51	0.81932	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	N	0.03253	-0.375	0.80722	D	1	D;B;P	0.76494	0.999;0.195;0.774	D;B;B	0.80764	0.994;0.094;0.203	T	0.06752	-1.0809	10	0.02654	T	1	-11.9961	19.7828	0.96424	0.0:0.0:1.0:0.0	.	287;308;308	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	Q	308;236	ENSP00000350708:R308Q;ENSP00000405623:R236Q	ENSP00000350708:R308Q	R	+	2	0	RAD23B	109126097	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.636000	0.83301	2.747000	0.94245	0.650000	0.86243	CGA	RAD23B	-	pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23		0.418	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110086276	+1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD54L2	23132	genome.wustl.edu	37	3	51669640	51669640	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:51669640G>T	ENST00000409535.2	+	9	1299	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y	RAD54L2_ENST00000296477.3_Missense_Mutation_p.D86Y	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	392	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTGATGGCTGATTGGGTGTC	0.453																																																	0													132.0	117.0	122.0					3																	51669640		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1174G>T	3.37:g.51669640G>T	ENSP00000386520:p.Asp392Tyr		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D392Y	ENST00000409535.2	37	c.1174	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006808|5.006808	0.93287|0.93287	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93189|.	-3.18;-3.18|.	5.54|5.54	5.54|5.54	0.83059|0.83059	DEAD-like helicase (2);SNF2-related (1);|.	0.135681|.	0.64402|.	D|.	0.000003|.	T|.	0.70263|.	0.3204|.	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	P|.	0.42993|.	0.797|.	P|.	0.54174|.	0.744|.	T|.	0.66578|.	-0.5888|.	10|.	0.72032|.	D|.	0.01|.	-2.003|-2.003	18.4549|18.4549	0.90717|0.90717	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	392|.	Q9Y4B4|.	ARIP4_HUMAN|.	Y|L	392;86|220	ENSP00000386520:D392Y;ENSP00000296477:D86Y|.	ENSP00000296477:D86Y|.	D|X	+|+	1|2	0|2	RAD54L2|RAD54L2	51644680|51644680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.781000|9.781000	0.99029|0.99029	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAT|TGA	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.453	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51669640	+1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	T
RASAL2	9462	genome.wustl.edu	37	1	178408665	178408665	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:178408665G>A	ENST00000462775.1	+	4	464	c.339G>A	c.(337-339)gtG>gtA	p.V113V	RASAL2_ENST00000367649.3_Silent_p.V261V|RASAL2_ENST00000448150.3_Silent_p.V243V	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	113	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTGTATCAGTGAAACCACTTC	0.413																																																	0													141.0	129.0	133.0					1																	178408665		2203	4300	6503	SO:0001819	synonymous_variant	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.339G>A	1.37:g.178408665G>A			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.V261	ENST00000462775.1	37	c.783	CCDS1322.1	1																																																																																			RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.413	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	G	NM_170692		178408665	+1	no_errors	ENST00000367649	ensembl	human	known	70_37	silent	SNP	1.000	A
RECQL	5965	genome.wustl.edu	37	12	21636484	21636484	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:21636484C>T	ENST00000444129.2	-	6	994	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	RECQL_ENST00000421138.2_Missense_Mutation_p.E176K	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTACCATTTCAGCATGAACC	0.318								Other identified genes with known or suspected DNA repair function																																									0													89.0	81.0	84.0					12																	21636484		2203	4300	6503	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.526G>A	12.37:g.21636484C>T	ENSP00000416739:p.Glu176Lys		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E176K	ENST00000444129.2	37	c.526	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342792	0.61073	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748	T;T;T;T	0.76186	-1.0;-1.0;2.48;2.48	4.67	4.67	0.58626	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.158580	0.56097	D	0.000035	T	0.58337	0.2115	N	0.17838	0.53	0.41044	D	0.985256	B	0.23891	0.093	B	0.21151	0.033	T	0.54938	-0.8218	10	0.12766	T	0.61	-0.237	15.0145	0.71573	0.0:0.8577:0.1423:0.0	.	176	P46063	RECQ1_HUMAN	K	176	ENSP00000416739:E176K;ENSP00000395449:E176K;ENSP00000379400:E176K;ENSP00000318727:E176K	ENSP00000318727:E176K	E	-	1	0	RECQL	21527751	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.684000	0.54671	2.413000	0.81919	0.563000	0.77884	GAA	RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ		0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21636484	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	1.000	T
RHD	6007	genome.wustl.edu	37	1	25633194	25633194	+	Silent	SNP	T	T	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:25633194T>A	ENST00000328664.4	+	7	1202	c.1047T>A	c.(1045-1047)ctT>ctA	p.L349L	RHD_ENST00000454452.2_Intron|RHD_ENST00000423810.2_Silent_p.L349L|RHD_ENST00000417538.2_Intron|RHD_ENST00000357542.4_Silent_p.L349L|RHD_ENST00000568195.1_Silent_p.L349L|RHD_ENST00000342055.5_Silent_p.L349L|RHD_ENST00000423253.1_Intron	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	349						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCTGGTGCTTGATACCGTCG	0.552																																																	0													211.0	165.0	181.0					1																	25633194		2118	3756	5874	SO:0001819	synonymous_variant	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.1047T>A	1.37:g.25633194T>A			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.L349	ENST00000328664.4	37	c.1047	CCDS262.1	1																																																																																			RHD	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.552	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	T	NM_016124		25633194	+1	no_errors	ENST00000328664	ensembl	human	known	70_37	silent	SNP	0.000	A
RIF1	55183	genome.wustl.edu	37	2	152320916	152320916	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:152320916G>C	ENST00000243326.5	+	29	5365	c.4882G>C	c.(4882-4884)Gta>Cta	p.V1628L	RIF1_ENST00000453091.2_Missense_Mutation_p.V1628L|RIF1_ENST00000430328.2_Missense_Mutation_p.V1628L|RIF1_ENST00000444746.2_Missense_Mutation_p.V1628L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1628L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGTAATACTGTAATATGTCA	0.318																																																	0													47.0	47.0	47.0					2																	152320916		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4882G>C	2.37:g.152320916G>C	ENSP00000243326:p.Val1628Leu		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.V1628L	ENST00000243326.5	37	c.4882	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	2.267	-0.367810	0.05069	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.22	-2.08	0.07254	.	1.852490	0.02592	N	0.100058	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.19706	0.022;0.038	B;B	0.17433	0.008;0.018	T	0.30966	-0.9960	10	0.11485	T	0.65	-0.6505	4.6946	0.12797	0.4004:0.0:0.3268:0.2727	.	1628;1628	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	1628	ENSP00000390181:V1628L;ENSP00000414615:V1628L;ENSP00000415691:V1628L;ENSP00000243326:V1628L;ENSP00000416123:V1628L	ENSP00000243326:V1628L	V	+	1	0	RIF1	152029162	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.179000	0.01259	-0.264000	0.09365	0.508000	0.49915	GTA	RIF1	-	NULL		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152320916	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.000	C
RING1	6015	genome.wustl.edu	37	6	33180148	33180148	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:33180148G>A	ENST00000374656.4	+	7	1401	c.1193G>A	c.(1192-1194)tGc>tAc	p.C398Y	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	398	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CTGGAGCTGTGCTATGCTCCC	0.582																																																	0													27.0	23.0	24.0					6																	33180148		1508	2708	4216	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1193G>A	6.37:g.33180148G>A	ENSP00000363787:p.Cys398Tyr		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C398Y	ENST00000374656.4	37	c.1193	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	G	0	-2.595259	0.00125	.	.	ENSG00000204227	ENST00000374656	T	0.77358	-1.09	4.92	1.22	0.21188	.	0.182955	0.39909	N	0.001230	T	0.15869	0.0382	N	0.00554	-1.385	0.36936	D	0.892156	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.02654	T	1	-15.4789	7.4179	0.27055	0.4438:0.0:0.5562:0.0	.	398	Q06587	RING1_HUMAN	Y	398	ENSP00000363787:C398Y	ENSP00000363787:C398Y	C	+	2	0	RING1	33288126	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	5.328000	0.65887	0.027000	0.15297	-0.796000	0.03273	TGC	RING1	-	NULL		0.582	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	HGNC	protein_coding	OTTHUMT00000076609.2	G			33180148	+1	no_errors	ENST00000374656	ensembl	human	known	70_37	missense	SNP	0.965	A
RNGTT	8732	genome.wustl.edu	37	6	89322520	89322520	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:89322520C>G	ENST00000369485.4	-	16	1898	c.1712G>C	c.(1711-1713)gGa>gCa	p.G571A	RNGTT_ENST00000265607.6_Missense_Mutation_p.G548A|RNGTT_ENST00000538899.1_Missense_Mutation_p.G488A	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	571	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCGCTTCTGTCCTTGAGAAGC	0.507																																																	0													249.0	190.0	210.0					6																	89322520		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1712G>C	6.37:g.89322520C>G	ENSP00000358497:p.Gly571Ala		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.G571A	ENST00000369485.4	37	c.1712	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	6.578	0.474893	0.12521	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746	T;T;T	0.20881	2.06;2.04;2.04	5.84	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.307172	0.40385	N	0.001115	T	0.03608	0.0103	N	0.17082	0.46	0.46149	D	0.998896	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.22871	-1.0204	10	0.05436	T	0.98	-9.775	10.7796	0.46369	0.1325:0.7999:0.0:0.0675	.	488;548;571	B4DSJ8;O60942-2;O60942	.;.;MCE1_HUMAN	A	571;548;488;542	ENSP00000358497:G571A;ENSP00000265607:G548A;ENSP00000442609:G488A	ENSP00000265607:G548A	G	-	2	0	RNGTT	89379239	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	2.209000	0.42806	1.571000	0.49722	0.650000	0.86243	GGA	RNGTT	-	superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc		0.507	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	C			89322520	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	0.997	G
RNPEPL1	57140	genome.wustl.edu	37	2	241514236	241514236	+	Intron	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:241514236G>A	ENST00000270357.4	+	6	1188				RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCGCTTCCCTGGCTCTGAGCA	0.667																																																	0																																										SO:0001627	intron_variant	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.595+191G>A	2.37:g.241514236G>A			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	RNA	SNP	-	NULL	ENST00000270357.4	37	NULL		2																																																																																			RNPEPL1	-	-		0.667	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241514236	+1	no_errors	ENST00000464550	ensembl	human	known	70_37	rna	SNP	0.004	A
RPL36	25873	genome.wustl.edu	37	19	5691504	5691504	+	Intron	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:5691504G>T	ENST00000577222.1	+	6	772				RPL36_ENST00000579446.1_Nonsense_Mutation_p.E90*|RPL36_ENST00000347512.3_Intron|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000394580.2_Intron			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GGTGGGATGGGAGTCAGGGCC	0.652											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	23.0	21.0					19																	5691504		2194	4284	6478	SO:0001627	intron_variant	25873				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.229-39G>T	19.37:g.5691504G>T		628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Nonsense_Mutation	SNP	pfam_Ribosomal_L36e	p.E90*	ENST00000577222.1	37	c.268	CCDS12147.1	19																																																																																			RPL36	-	NULL		0.652	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	G	NM_015414		5691504	+1	no_errors	ENST00000579446	ensembl	human	putative	70_37	nonsense	SNP	0.000	T
RPL36	25873	genome.wustl.edu	37	19	5691566	5691566	+	Silent	SNP	G	G	A	rs116840814		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:5691566G>A	ENST00000577222.1	+	6	796	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.K84K|RPL36_ENST00000579649.1_Silent_p.K84K|RPL36_ENST00000394580.2_Silent_p.K84K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	84					cellular protein metabolic process (GO:0044267)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TCCGCGCCAAGAGGAAGCGGG	0.672											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	19.0	18.0					19																	5691566		2200	4287	6487	SO:0001819	synonymous_variant	25873				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.252G>A	19.37:g.5691566G>A		628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	pfam_Ribosomal_L36e	p.K84	ENST00000577222.1	37	c.252	CCDS12147.1	19																																																																																			RPL36	-	pfam_Ribosomal_L36e		0.672	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	G	NM_015414		5691566	+1	no_errors	ENST00000347512	ensembl	human	known	70_37	silent	SNP	1.000	A
RPS24	6229	genome.wustl.edu	37	10	79814352	79814352	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:79814352G>C	ENST00000440692.1	+	5	596	c.454G>C	c.(454-456)Gat>Cat	p.D152H	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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 small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAGATGCACAGATGTGAAGAA	0.542																																																	0													57.0	54.0	55.0					10																	79814352		692	1591	2283	SO:0001583	missense	6229			AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"""S ribosomal proteins"""	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.454G>C	10.37:g.79814352G>C	ENSP00000414321:p.Asp152His		E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom	p.D152H	ENST00000440692.1	37	c.454	CCDS44443.1	10	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117495	0.20877	.	.	ENSG00000138326	ENST00000440692	.	.	.	2.46	1.47	0.22746	.	.	.	.	.	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	P	0.35982	0.531	B	0.32864	0.154	T	0.18650	-1.0330	7	.	.	.	.	6.1015	0.20049	0.0:0.0:0.6971:0.3029	.	152	E7EPK6	.	H	152	.	.	D	+	1	0	RPS24	79484358	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.388000	0.20735	0.542000	0.28846	0.563000	0.77884	GAT	RPS24	-	NULL		0.542	RPS24-202	KNOWN	basic|CCDS	protein_coding	RPS24	HGNC	protein_coding		G	NM_001026		79814352	+1	no_errors	ENST00000440692	ensembl	human	known	70_37	missense	SNP	0.001	C
SAMD9	54809	genome.wustl.edu	37	7	92735050	92735050	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:92735050C>T	ENST00000379958.2	-	3	630	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	121						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAGCCATATCTGGGTTCTCT	0.378																																																	0													142.0	141.0	141.0					7																	92735050		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.361G>A	7.37:g.92735050C>T	ENSP00000369292:p.Asp121Asn		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D121N	ENST00000379958.2	37	c.361	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572141	0.28092	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13420	2.59;2.59	4.7	2.76	0.32466	.	0.374223	0.21795	N	0.069020	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.37979	-0.9682	10	0.17832	T	0.49	.	4.7754	0.13176	0.1571:0.6054:0.1522:0.0853	.	121	Q5K651	SAMD9_HUMAN	N	121	ENSP00000369292:D121N;ENSP00000414529:D121N	ENSP00000369292:D121N	D	-	1	0	SAMD9	92572986	0.000000	0.05858	0.038000	0.18304	0.186000	0.23388	-0.048000	0.11944	0.628000	0.30357	0.603000	0.83216	GAT	SAMD9	-	NULL		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92735050	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.006	T
SCAMP2	10066	genome.wustl.edu	37	15	75137833	75137833	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:75137833G>A	ENST00000268099.9	-	8	945	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank|ULK3_ENST00000569437.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	279					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAGGAAGACTGAGAGCACGGC	0.562																																																	0													133.0	116.0	121.0					15																	75137833		2197	4295	6492	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.836C>T	15.37:g.75137833G>A	ENSP00000268099:p.Ser279Leu		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.S279L	ENST00000268099.9	37	c.836	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.103135	0.94245	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18960	2.18	4.91	4.91	0.64330	.	0.211673	0.42548	D	0.000700	T	0.33933	0.0880	M	0.79343	2.45	0.80722	D	1	B;P	0.36712	0.071;0.566	B;B	0.42163	0.1;0.378	T	0.12319	-1.0552	10	0.33141	T	0.24	.	17.1164	0.86690	0.0:0.0:1.0:0.0	.	279;248	O15127;B3KU14	SCAM2_HUMAN;.	L	279;248	ENSP00000268099:S279L	ENSP00000268099:S279L	S	-	2	0	SCAMP2	72924886	1.000000	0.71417	0.830000	0.32933	0.879000	0.50718	7.926000	0.87569	2.273000	0.75805	0.585000	0.79938	TCA	SCAMP2	-	pfam_SCAMP		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	G	NM_005697		75137833	-1	no_errors	ENST00000268099	ensembl	human	known	70_37	missense	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4011173	4011173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:4011173delC	ENST00000404826.2	+	12	1929	c.1790delC	c.(1789-1791)gccfs	p.A597fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.A597fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	597	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACTGTGGTGCCACACATGAC	0.522																																																	0													86.0	71.0	76.0					7																	4011173		2203	4299	6502	SO:0001589	frameshift_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1790delC	7.37:g.4011173delC	ENSP00000385899:p.Ala597fs		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T598fs	ENST00000404826.2	37	c.1790	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4011173	+1	no_errors	ENST00000404826	ensembl	human	known	70_37	frame_shift_del	DEL	0.961	-
SEC16A	9919	genome.wustl.edu	37	9	139371760	139371760	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139371760G>C	ENST00000313050.7	-	1	381	c.308C>G	c.(307-309)tCt>tGt	p.S103C	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGTCCCTGAGAGCTATCTCT	0.592																																																	0													71.0	76.0	74.0					9																	139371760		2012	4170	6182	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.308C>G	9.37:g.139371760G>C	ENSP00000325827:p.Ser103Cys		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.S103C	ENST00000313050.7	37	c.308	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944942	0.18356	.	.	ENSG00000148396	ENST00000313050	T	0.29397	1.57	5.15	4.24	0.50183	.	.	.	.	.	T	0.21550	0.0519	N	0.24115	0.695	0.29603	N	0.847543	B	0.18741	0.03	B	0.14578	0.011	T	0.11324	-1.0592	8	.	.	.	.	13.4044	0.60903	0.0:0.1574:0.8426:0.0	.	103	F1T0I1	.	C	103	ENSP00000325827:S103C	.	S	-	2	0	SEC16A	138491581	0.012000	0.17670	0.003000	0.11579	0.181000	0.23173	1.898000	0.39809	1.292000	0.44672	0.655000	0.94253	TCT	SEC16A	-	NULL		0.592	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371760	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.011	C
SEC16A	9919	genome.wustl.edu	37	9	139371806	139371806	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139371806G>C	ENST00000313050.7	-	1	335	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGTGCTGAGAAAACCCT	0.572																																																	0													70.0	75.0	73.0					9																	139371806		1971	4137	6108	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.262C>G	9.37:g.139371806G>C	ENSP00000325827:p.Gln88Glu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.Q88E	ENST00000313050.7	37	c.262	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680426	0.47886	.	.	ENSG00000148396	ENST00000313050	T	0.29655	1.56	5.69	5.69	0.88448	.	.	.	.	.	T	0.46151	0.1378	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.15694	-1.0428	8	.	.	.	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	88	F1T0I1	.	E	88	ENSP00000325827:Q88E	.	Q	-	1	0	SEC16A	138491627	1.000000	0.71417	0.940000	0.37924	0.087000	0.18053	9.179000	0.94861	2.692000	0.91855	0.655000	0.94253	CAG	SEC16A	-	NULL		0.572	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371806	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	C
SETBP1	26040	genome.wustl.edu	37	18	42533025	42533025	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:42533025G>C	ENST00000282030.5	+	4	4016	c.3720G>C	c.(3718-3720)caG>caC	p.Q1240H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1240						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGACGCCCAGCATTGGACAC	0.542									Schinzel-Giedion syndrome																																								0													79.0	73.0	75.0					18																	42533025		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3720G>C	18.37:g.42533025G>C	ENSP00000282030:p.Gln1240His		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.Q1240H	ENST00000282030.5	37	c.3720	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060110	0.76074	.	.	ENSG00000152217	ENST00000282030	T	0.77229	-1.08	6.17	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.34521	1.04	0.38376	D	0.945004	B	0.25390	0.125	B	0.19946	0.027	T	0.69289	-0.5184	10	0.62326	D	0.03	.	12.0578	0.53546	0.0629:0.0:0.8164:0.1206	.	1240	Q9Y6X0	SETBP_HUMAN	H	1240	ENSP00000282030:Q1240H	ENSP00000282030:Q1240H	Q	+	3	2	SETBP1	40787023	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.048000	0.64238	1.613000	0.50231	0.655000	0.94253	CAG	SETBP1	-	NULL		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		42533025	+1	no_errors	ENST00000282030	ensembl	human	known	70_37	missense	SNP	1.000	C
SETDB1	9869	genome.wustl.edu	37	1	150902570	150902570	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:150902570G>A	ENST00000271640.5	+	3	578	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D130N|SETDB1_ENST00000368963.1_Missense_Mutation_p.D130N|SETDB1_ENST00000368962.2_Missense_Mutation_p.D130N|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	130					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATGAAGATGATGATGTCCT	0.438																																																	0													101.0	101.0	101.0					1																	150902570		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.388G>A	1.37:g.150902570G>A	ENSP00000271640:p.Asp130Asn		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.D130N	ENST00000271640.5	37	c.388	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.368724	0.95900	.	.	ENSG00000143379	ENST00000525956;ENST00000271640;ENST00000448029;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193;ENST00000423081	D;T;T;D;T	0.91068	-2.78;0.45;0.99;-2.78;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.993	D;D;D;D;D	0.87578	0.996;0.998;0.993;0.993;0.984	D	0.91223	0.5008	10	0.45353	T	0.12	.	19.5808	0.95467	0.0:0.0:1.0:0.0	.	130;130;130;130;130	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.;.;.;.;SETB1_HUMAN	N	130;130;130;130;130;130;130;130;144	ENSP00000271640:D130N;ENSP00000357958:D130N;ENSP00000436148:D130N;ENSP00000357965:D130N;ENSP00000432348:D130N	ENSP00000271640:D130N	D	+	1	0	SETDB1	149169194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.434000	0.73408	2.706000	0.92434	0.655000	0.94253	GAT	SETDB1	-	NULL		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150902570	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	A
SETDB1	9869	genome.wustl.edu	37	1	150922972	150922972	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:150922972C>T	ENST00000271640.5	+	13	1809	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	SETDB1_ENST00000368969.4_Missense_Mutation_p.S540L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	540					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCAGCACCCTCAGCACTCCCG	0.572																																																	0													64.0	72.0	70.0					1																	150922972		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1619C>T	1.37:g.150922972C>T	ENSP00000271640:p.Ser540Leu		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.S540L	ENST00000271640.5	37	c.1619	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.895091	0.17613	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.87029	-2.2;1.57;-2.2;1.29	4.97	4.97	0.65823	.	0.376195	0.26769	U	0.022583	T	0.60117	0.2244	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.22414	0.002;0.02;0.069;0.041	B;B;B;B	0.16289	0.01;0.015;0.015;0.007	T	0.60316	-0.7287	10	0.25106	T	0.35	.	15.3202	0.74115	0.0:1.0:0.0:0.0	.	540;541;540;540	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	L	540;541;540;540	ENSP00000271640:S540L;ENSP00000436148:S541L;ENSP00000357965:S540L;ENSP00000432348:S540L	ENSP00000271640:S540L	S	+	2	0	SETDB1	149189596	0.002000	0.14202	0.167000	0.22817	0.127000	0.20565	0.602000	0.24134	2.454000	0.82982	0.655000	0.94253	TCA	SETDB1	-	NULL		0.572	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150922972	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	0.358	T
SF3B2	10992	genome.wustl.edu	37	11	65827432	65827432	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:65827432C>T	ENST00000322535.6	+	13	1630	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SF3B2_ENST00000528302.1_Silent_p.F510F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	527					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGCCAGACTTCATCAAACGCA	0.607																																																	0													58.0	55.0	56.0					11																	65827432		2201	4295	6496	SO:0001819	synonymous_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1581C>T	11.37:g.65827432C>T			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.F527	ENST00000322535.6	37	c.1581	CCDS31612.1	11																																																																																			SF3B2	-	pfam_DUF382		0.607	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	C			65827432	+1	no_errors	ENST00000322535	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC27A1	376497	genome.wustl.edu	37	19	17598092	17598092	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:17598092G>A	ENST00000252595.7	+	3	769	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SLC27A1_ENST00000598424.1_Silent_p.L45L|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.L224L	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	224	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCCGCTGCTGAAGGAGGCCT	0.607																																																	0													60.0	55.0	57.0					19																	17598092		2203	4300	6503	SO:0001819	synonymous_variant	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.672G>A	19.37:g.17598092G>A			A6NIH2|B7Z662	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L224	ENST00000252595.7	37	c.672	CCDS32953.1	19																																																																																			SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.607	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	G	NM_198580		17598092	+1	no_errors	ENST00000252595	ensembl	human	known	70_37	silent	SNP	0.962	A
SLC4A8	9498	genome.wustl.edu	37	12	51888824	51888824	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:51888824C>T	ENST00000453097.2	+	21	3082	c.2865C>T	c.(2863-2865)ttC>ttT	p.F955F	SLC4A8_ENST00000358657.3_Silent_p.F982F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCACCTCTTCACCCTCATCC	0.498																																																	0													138.0	114.0	122.0					12																	51888824		2203	4300	6503	SO:0001819	synonymous_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2865C>T	12.37:g.51888824C>T				Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.F955	ENST00000453097.2	37	c.2865	CCDS44890.1	12																																																																																			SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.498	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	C	NM_004858		51888824	+1	no_errors	ENST00000453097	ensembl	human	known	70_37	silent	SNP	1.000	T
SLMAP	7871	genome.wustl.edu	37	3	57857404	57857404	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:57857404C>T	ENST00000428312.1	+	12	1322	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.H393Y|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000295951.3_Missense_Mutation_p.H393Y|SLMAP_ENST00000449503.2_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	410					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CACTTTTATTCATCAATTCAT	0.358																																																	0													80.0	84.0	82.0					3																	57857404		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1228C>T	3.37:g.57857404C>T	ENSP00000398661:p.His410Tyr		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.H410Y	ENST00000428312.1	37	c.1228		3	.	.	.	.	.	.	.	.	.	.	C	17.87	3.496053	0.64186	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000465203	T;T;T	0.31769	1.5;1.5;1.48	4.85	4.85	0.62838	.	0.119433	0.56097	D	0.000023	T	0.27866	0.0686	L	0.40543	1.245	0.80722	D	1	B;B	0.31730	0.337;0.118	B;B	0.28784	0.04;0.094	T	0.11131	-1.0600	10	0.62326	D	0.03	-5.061	16.5278	0.84336	0.0:1.0:0.0:0.0	.	410;393	Q14BN4;Q14BN4-3	SLMAP_HUMAN;.	Y	393;393;410;117	ENSP00000295951:H393Y;ENSP00000295952:H393Y;ENSP00000398661:H410Y	ENSP00000295951:H393Y	H	+	1	0	SLMAP	57832444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.750000	0.74888	2.406000	0.81754	0.555000	0.69702	CAT	SLMAP	-	NULL		0.358	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	C	NM_007159		57857404	+1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCC2	6601	genome.wustl.edu	37	12	56558384	56558384	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:56558384G>T	ENST00000267064.4	-	27	3357	c.3271C>A	c.(3271-3273)Cct>Act	p.P1091T	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1122T	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1091	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGCAGGAGGAGGAGGAGGA	0.592																																																	0													92.0	81.0	85.0					12																	56558384		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3271C>A	12.37:g.56558384G>T	ENSP00000267064:p.Pro1091Thr		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P1091T	ENST00000267064.4	37	c.3271	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220698	0.22457	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.46451	0.88;0.87	5.03	3.12	0.35913	.	0.425407	0.20346	N	0.094150	T	0.22627	0.0546	N	0.08118	0	0.33644	D	0.607655	B	0.28850	0.225	B	0.30943	0.122	T	0.26430	-1.0103	9	.	.	.	-5.993	11.7544	0.51868	0.0:0.3588:0.6412:0.0	.	1091	Q8TAQ2	SMRC2_HUMAN	T	1122;1091	ENSP00000449396:P1122T;ENSP00000267064:P1091T	.	P	-	1	0	SMARCC2	54844651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	0.595000	0.29777	0.563000	0.77884	CCT	SMARCC2	-	NULL		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56558384	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	T
SMC4	10051	genome.wustl.edu	37	3	160131375	160131375	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:160131375G>C	ENST00000357388.3	+	8	1546	c.1095G>C	c.(1093-1095)aaG>aaC	p.K365N	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.K365N|SMC4_ENST00000360111.2_Missense_Mutation_p.K365N|SMC4_ENST00000469762.1_Missense_Mutation_p.K340N|SMC4_ENST00000344722.5_Missense_Mutation_p.K365N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	365					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAGCTAAGAATAAAGATG	0.239																																																	0													28.0	28.0	28.0					3																	160131375		2154	4266	6420	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1095G>C	3.37:g.160131375G>C	ENSP00000349961:p.Lys365Asn		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.K365N	ENST00000357388.3	37	c.1095	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711569	0.68730	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000344722	T;T;T;T;T;T	0.75589	-0.94;-0.95;-0.93;3.23;-0.95;-0.94	5.7	0.419	0.16438	RecF/RecN/SMC (1);	0.042614	0.85682	D	0.000000	D	0.83603	0.5290	M	0.86178	2.8	0.51233	D	0.999912	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.87578	0.982;0.998;0.966	T	0.80259	-0.1457	10	0.20046	T	0.44	-22.8244	10.8157	0.46573	0.3157:0.0:0.6843:0.0	.	365;340;365	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	N	365;365;365;340;365;365;365	ENSP00000349961:K365N;ENSP00000353225:K365N;ENSP00000417964:K340N;ENSP00000420121:K365N;ENSP00000420734:K365N;ENSP00000341382:K365N	ENSP00000341382:K365N	K	+	3	2	SMC4	161614069	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.795000	0.38784	0.030000	0.15379	-0.145000	0.13849	AAG	SMC4	-	pfam_RecF/RecN/SMC		0.239	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160131375	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	C
SMG1	23049	genome.wustl.edu	37	16	18863488	18863488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:18863488delA	ENST00000446231.2	-	33	5365	c.4953delT	c.(4951-4953)tctfs	p.S1651fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.S1651fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1651	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCTGAACTTCAGATTTTTCTC	0.428																																																	0													105.0	102.0	103.0					16																	18863488		1850	4103	5953	SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4953delT	16.37:g.18863488delA	ENSP00000402515:p.Ser1651fs		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	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.E1652fs	ENST00000446231.2	37	c.4953	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	A	NM_015092		18863488	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	frame_shift_del	DEL	0.992	-
SNHG14	104472715	genome.wustl.edu	37	15	25319091	25319091	+	RNA	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:25319091C>T	ENST00000549804.2	+	0	870				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-10_ENST00000363791.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AAGGAAGGCCCTTGTCCAAGA	0.483																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25319091C>T				RNA	SNP	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNHG14	-	-		0.483	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408278.2	C			25319091	+1	no_errors	ENST00000549804	ensembl	human	known	70_37	rna	SNP	0.001	T
SNX13	23161	genome.wustl.edu	37	7	17874425	17874425	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:17874425C>T	ENST00000409389.1	-	14	1595	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	SNX13_ENST00000428135.3_Missense_Mutation_p.E475K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	475	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTTGGATCTTCATGATTCAAA	0.284																																																	0													51.0	50.0	50.0					7																	17874425		1796	4057	5853	SO:0001583	missense	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1423G>A	7.37:g.17874425C>T	ENSP00000386705:p.Glu475Lys		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E475K	ENST00000409389.1	37	c.1423		7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144845	0.77888	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.21543	2.0;2.0	5.12	5.12	0.69794	.	0.047210	0.85682	D	0.000000	T	0.27454	0.0674	L	0.55990	1.75	0.80722	D	1	B;B;P	0.52061	0.294;0.237;0.95	B;B;P	0.48334	0.172;0.238;0.574	T	0.04242	-1.0966	10	0.07644	T	0.81	-16.6054	18.9365	0.92588	0.0:1.0:0.0:0.0	.	272;475;475	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	K	475;475;523	ENSP00000386705:E475K;ENSP00000398789:E475K	ENSP00000242044:E523K	E	-	1	0	SNX13	17840950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.547000	0.85894	0.555000	0.69702	GAA	SNX13	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.284	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	C	NM_015132		17874425	-1	no_errors	ENST00000428135	ensembl	human	novel	70_37	missense	SNP	1.000	T
SOX5	6660	genome.wustl.edu	37	12	23689418	23689418	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:23689418G>A	ENST00000451604.2	-	14	2058	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	SOX5_ENST00000537393.1_Missense_Mutation_p.R618W|SOX5_ENST00000546136.1_Missense_Mutation_p.R640W|SOX5_ENST00000541536.1_Missense_Mutation_p.R532W|SOX5_ENST00000381381.2_Missense_Mutation_p.R532W|SOX5_ENST00000396007.2_Missense_Mutation_p.R267W|SOX5_ENST00000309359.1_Missense_Mutation_p.R640W|SOX5_ENST00000545921.1_Missense_Mutation_p.R643W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	653					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATTTCCTGCCGCCTGTTGCGC	0.468																																																	0													105.0	86.0	92.0					12																	23689418		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1957C>T	12.37:g.23689418G>A	ENSP00000398273:p.Arg653Trp		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R653W	ENST00000451604.2	37	c.1957	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621650	0.66787	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.38	0.644	0.17776	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.83483	2.645	0.36859	D	0.888322	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76575	0.988;0.987;0.799	T	0.82800	-0.0278	10	0.87932	D	0	.	16.3039	0.82841	0.0:0.0:0.2969:0.7031	.	532;653;267	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	W	640;640;532;653;618;532;267;643	ENSP00000437487:R640W;ENSP00000308927:R640W;ENSP00000370788:R532W;ENSP00000398273:R653W;ENSP00000439832:R618W;ENSP00000441973:R532W;ENSP00000379328:R267W;ENSP00000443520:R643W	ENSP00000308927:R640W	R	-	1	2	SOX5	23580685	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	1.344000	0.33941	-0.044000	0.13491	-0.284000	0.09977	CGG	SOX5	-	NULL		0.468	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		23689418	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	0.994	A
SPTAN1	6709	genome.wustl.edu	37	9	131386727	131386727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:131386727C>T	ENST00000372731.4	+	45	6048	c.5938C>T	c.(5938-5940)Cag>Tag	p.Q1980*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q1985*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q1985*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1980					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCTTCCTTCAGTTCAACTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)												0													68.0	56.0	60.0					9																	131386727		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5938C>T	9.37:g.131386727C>T	ENSP00000361816:p.Gln1980*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.Q1985*	ENST00000372731.4	37	c.5953	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.709379	0.99758	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	1985;1980;1985;1960;229	.	ENSP00000350882:Q1985X	Q	+	1	0	SPTAN1	130426548	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	CAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131386727	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SRGAP1	57522	genome.wustl.edu	37	12	64436615	64436615	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:64436615G>C	ENST00000355086.3	+	5	1059	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E139Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E179Q|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	179	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CATCAGTGCAGAGAGCAAGCT	0.438																																																	0													97.0	88.0	91.0					12																	64436615		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.535G>C	12.37:g.64436615G>C	ENSP00000347198:p.Glu179Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E179Q	ENST00000355086.3	37	c.535	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606869	0.87157	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.41758	0.99;0.99;2.52	5.56	5.56	0.83823	.	0.000000	0.35013	U	0.003503	T	0.45135	0.1327	L	0.41824	1.3	0.80722	D	1	B;B;B	0.32620	0.075;0.112;0.378	B;B;B	0.41510	0.14;0.272;0.359	T	0.16719	-1.0393	9	.	.	.	.	19.9239	0.97097	0.0:0.0:1.0:0.0	.	179;139;179	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	179;179;139	ENSP00000347198:E179Q;ENSP00000350480:E179Q;ENSP00000437948:E139Q	.	E	+	1	0	SRGAP1	62722882	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.787000	0.99055	2.797000	0.96272	0.563000	0.77884	GAG	SRGAP1	-	NULL		0.438	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64436615	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	1.000	C
STAU2	27067	genome.wustl.edu	37	8	74333613	74333613	+	Silent	SNP	G	G	C	rs369462384		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:74333613G>C	ENST00000524300.1	-	15	2057	c.1707C>G	c.(1705-1707)gcC>gcG	p.A569A	STAU2-AS1_ENST00000517604.1_lincRNA|STAU2_ENST00000521210.1_Silent_p.A503A|STAU2_ENST00000522695.1_Silent_p.A537A|STAU2_ENST00000523558.1_Silent_p.A397A	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	569	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCTGCTAGACGGCCGAGTTTG	0.522																																																	0													93.0	85.0	87.0					8																	74333613		692	1591	2283	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1707C>G	8.37:g.74333613G>C			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.A569	ENST00000524300.1	37	c.1707	CCDS55247.1	8																																																																																			STAU2	-	NULL		0.522	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	G	NM_001164380		74333613	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	silent	SNP	1.000	C
SUOX	6821	genome.wustl.edu	37	12	56398554	56398554	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:56398554G>C	ENST00000394109.3	+	3	2105	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000356124.4_Missense_Mutation_p.D461H|SUOX_ENST00000394115.2_Missense_Mutation_p.D461H|SUOX_ENST00000266971.3_Missense_Mutation_p.D461H|SUOX_ENST00000548274.1_Missense_Mutation_p.D461H			P51687	SUOX_HUMAN	sulfite oxidase	461	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GATCCGGGTGGATGTGTCTCT	0.612																																																	0													177.0	159.0	165.0					12																	56398554		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1381G>C	12.37:g.56398554G>C	ENSP00000377668:p.Asp461His			Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.D461H	ENST00000394109.3	37	c.1381	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099717	0.76983	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93803	0.7103	10	0.87932	D	0	-13.8378	15.604	0.76649	0.0:0.0:1.0:0.0	.	461	P51687	SUOX_HUMAN	H	461	ENSP00000348440:D461H;ENSP00000266971:D461H;ENSP00000377674:D461H;ENSP00000450245:D461H;ENSP00000377668:D461H	ENSP00000266971:D461H	D	+	1	0	SUOX	54684821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.917000	0.75782	2.752000	0.94435	0.467000	0.42956	GAT	SUOX	-	pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk		0.612	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398554	+1	no_errors	ENST00000266971	ensembl	human	known	70_37	missense	SNP	1.000	C
SVEP1	79987	genome.wustl.edu	37	9	113170365	113170365	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:113170365C>G	ENST00000401783.2	-	38	7851	c.7515G>C	c.(7513-7515)ttG>ttC	p.L2505F	SVEP1_ENST00000374469.1_Missense_Mutation_p.L2482F|SVEP1_ENST00000297826.5_Missense_Mutation_p.L431F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2505	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTGCCATTCAAAATCTCCT	0.483																																																	0													47.0	47.0	47.0					9																	113170365		1915	4124	6039	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7515G>C	9.37:g.113170365C>G	ENSP00000384917:p.Leu2505Phe		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L2505F	ENST00000401783.2	37	c.7515	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678825	0.29783	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63255	-0.03;-0.03;-0.03	5.85	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	0.543529	0.18926	N	0.127333	T	0.56455	0.1986	M	0.62209	1.925	0.58432	D	0.99999	P	0.42941	0.794	B	0.42163	0.378	T	0.56044	-0.8044	10	0.56958	D	0.05	.	8.7208	0.34439	0.0:0.5294:0.1053:0.3654	.	2505	Q4LDE5	SVEP1_HUMAN	F	2505;2482;431;177	ENSP00000384917:L2505F;ENSP00000363593:L2482F;ENSP00000297826:L431F	ENSP00000297826:L431F	L	-	3	2	SVEP1	112210186	0.590000	0.26815	0.143000	0.22291	0.823000	0.46562	0.921000	0.28718	0.031000	0.15407	0.655000	0.94253	TTG	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113170365	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.060	G
SYMPK	8189	genome.wustl.edu	37	19	46352129	46352129	+	Missense_Mutation	SNP	C	C	T	rs540054802		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:46352129C>T	ENST00000245934.7	-	6	549	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	102	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R102Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCAATGTCTCGCTTGCTGAG	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		24650	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											130.0	115.0	120.0					19																	46352129		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.305G>A	19.37:g.46352129C>T	ENSP00000245934:p.Arg102Gln		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R102Q	ENST00000245934.7	37	c.305	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491940	0.44352	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.34072	1.38	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.061987	0.64402	D	0.000006	T	0.13756	0.0333	N	0.05124	-0.11	0.44380	D	0.997282	B;P	0.38617	0.249;0.64	B;B	0.08055	0.002;0.003	T	0.14868	-1.0457	10	0.25106	T	0.35	.	12.1353	0.53968	0.1712:0.8288:0.0:0.0	.	117;102	Q4LE61;Q92797	.;SYMPK_HUMAN	Q	102;106	ENSP00000245934:R102Q	ENSP00000245934:R102Q	R	-	2	0	SYMPK	51043969	0.957000	0.32711	1.000000	0.80357	0.854000	0.48673	3.599000	0.54045	2.710000	0.92621	0.563000	0.77884	CGA	SYMPK	-	superfamily_ARM-type_fold		0.522	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46352129	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32633289	32633289	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:32633289C>T	ENST00000242310.4	-	1	2378	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	763					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGTTGTTCTCAAGTGCCT	0.438																																																	0													189.0	185.0	186.0					9																	32633289		2203	4300	6503	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2289G>A	9.37:g.32633289C>T			Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E763	ENST00000242310.4	37	c.2289	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32633289	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	silent	SNP	1.000	T
TARBP1	6894	genome.wustl.edu	37	1	234528170	234528170	+	Silent	SNP	G	G	T	rs377007975		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:234528170G>T	ENST00000040877.1	-	29	4688	c.4689C>A	c.(4687-4689)ctC>ctA	p.L1563L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1563					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACCCCAACAAGAGCAGAGATT	0.403																																																	0													173.0	174.0	174.0					1																	234528170		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4689C>A	1.37:g.234528170G>T			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.L1563	ENST00000040877.1	37	c.4689	CCDS1601.1	1																																																																																			TARBP1	-	pfam_SpoU_MeTrfase		0.403	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	G	NM_005646		234528170	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	silent	SNP	0.199	T
TCEB3CL2	100506888	genome.wustl.edu	37	18	44543759	44543759	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:44543759G>A	ENST00000591973.2	-	1	848	c.613C>T	c.(613-615)Cct>Tct	p.P205S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCAGCAGAGGCCCGCCCTGA	0.716																																																	0																																										SO:0001583	missense	100506888				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.613C>T	18.37:g.44543759G>A	ENSP00000468046:p.Pro205Ser			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P205S	ENST00000591973.2	37	c.613	CCDS59316.1	18																																																																																			TCEB3CL2	-	NULL		0.716	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	G	XM_929328		44543759	-1	no_errors	ENST00000591973	ensembl	human	known	70_37	missense	SNP	0.006	A
TCP10L	140290	genome.wustl.edu	37	21	33954591	33954591	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:33954591C>T	ENST00000300258.3	-	3	392	c.279G>A	c.(277-279)ctG>ctA	p.L93L	AP000275.65_ENST00000553001.1_Silent_p.L267L|TCP10L_ENST00000472557.1_Silent_p.L7L	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	93	Leucine-zipper.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GCAGAGCTCTCAGCTTTTCTC	0.527																																																	0													105.0	103.0	104.0					21																	33954591		2203	4300	6503	SO:0001819	synonymous_variant	140290			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.279G>A	21.37:g.33954591C>T			Q53EW0|Q96LN5	Silent	SNP	NULL	p.L93	ENST00000300258.3	37	c.279	CCDS13616.1	21																																																																																			TCP10L	-	NULL		0.527	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10L	HGNC	protein_coding	OTTHUMT00000139350.1	C	NM_144659		33954591	-1	no_errors	ENST00000300258	ensembl	human	known	70_37	silent	SNP	0.004	T
TEX15	56154	genome.wustl.edu	37	8	30694585	30694585	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:30694585G>C	ENST00000256246.2	-	3	8140	c.8066C>G	c.(8065-8067)tCt>tGt	p.S2689C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2689					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCCAGAAGGAGATGGCTGTAC	0.443																																																	0													139.0	135.0	136.0					8																	30694585		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8066C>G	8.37:g.30694585G>C	ENSP00000256246:p.Ser2689Cys			Missense_Mutation	SNP	NULL	p.S2689C	ENST00000256246.2	37	c.8066	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262810	0.10294	.	.	ENSG00000133863	ENST00000256246	T	0.11063	2.81	5.6	2.7	0.31948	.	0.789987	0.11148	N	0.594417	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.28801	0.223	B	0.16289	0.015	T	0.34279	-0.9835	10	0.87932	D	0	.	6.2621	0.20905	0.3288:0.0:0.6712:0.0	.	2689	Q9BXT5	TEX15_HUMAN	C	2689	ENSP00000256246:S2689C	ENSP00000256246:S2689C	S	-	2	0	TEX15	30814127	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	0.312000	0.19397	0.761000	0.33130	0.650000	0.86243	TCT	TEX15	-	NULL		0.443	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30694585	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	C
TEX15	56154	genome.wustl.edu	37	8	30695141	30695141	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:30695141G>C	ENST00000256246.2	-	3	7584	c.7510C>G	c.(7510-7512)Ctt>Gtt	p.L2504V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2504					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAGGCACAAGAGAAACATCA	0.413																																																	0													72.0	74.0	73.0					8																	30695141		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7510C>G	8.37:g.30695141G>C	ENSP00000256246:p.Leu2504Val			Missense_Mutation	SNP	NULL	p.L2504V	ENST00000256246.2	37	c.7510	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	5.826	0.336705	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.18174	2.23	5.13	0.442	0.16582	.	1.337420	0.04909	N	0.452751	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	P	0.40731	0.728	B	0.39339	0.297	T	0.24941	-1.0146	10	0.87932	D	0	.	4.5315	0.12008	0.3206:0.165:0.5144:0.0	.	2504	Q9BXT5	TEX15_HUMAN	V	2504	ENSP00000256246:L2504V	ENSP00000256246:L2504V	L	-	1	0	TEX15	30814683	0.007000	0.16637	0.002000	0.10522	0.103000	0.19146	0.588000	0.23924	0.068000	0.16574	-0.145000	0.13849	CTT	TEX15	-	NULL		0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30695141	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.001	C
TGIF1	7050	genome.wustl.edu	37	18	3456358	3456358	+	Missense_Mutation	SNP	T	T	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:3456358T>G	ENST00000330513.5	+	2	713	c.410T>G	c.(409-411)gTt>gGt	p.V137G	TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000405385.3_5'UTR|TGIF1_ENST00000577543.1_Missense_Mutation_p.V8G|TGIF1_ENST00000548489.2_Missense_Mutation_p.V22G|TGIF1_ENST00000343820.5_Missense_Mutation_p.V8G|TGIF1_ENST00000551402.1_Missense_Mutation_p.V8G|TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000407501.2_Missense_Mutation_p.V8G|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000400167.2_5'UTR	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	137					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CTAGGTATTGTTGCAGCATCT	0.488																																																	0													356.0	350.0	352.0					18																	3456358		2203	4300	6503	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.410T>G	18.37:g.3456358T>G	ENSP00000327959:p.Val137Gly		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V137G	ENST00000330513.5	37	c.410	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	T	5.648	0.304186	0.10678	.	.	ENSG00000177426	ENST00000548489;ENST00000549253;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000330513	T;T;T;T;T;T	0.73897	0.52;0.49;0.49;-0.79;0.58;0.53	5.97	5.97	0.96955	.	0.389347	0.19611	N	0.110144	T	0.68201	0.2975	L	0.43923	1.385	0.80722	D	1	P;P;B;B	0.49783	0.928;0.543;0.023;0.178	P;B;B;B	0.44897	0.463;0.138;0.049;0.054	T	0.64630	-0.6362	10	0.21014	T	0.42	-10.3219	11.4773	0.50306	0.0:0.0694:0.0:0.9306	.	8;137;8;22	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	G	22;11;8;8;8;8;137	ENSP00000447747:V22G;ENSP00000339631:V8G;ENSP00000384133:V8G;ENSP00000448934:V8G;ENSP00000446944:V8G;ENSP00000327959:V137G	ENSP00000327959:V137G	V	+	2	0	TGIF1	3446358	1.000000	0.71417	0.176000	0.23000	0.810000	0.45777	3.515000	0.53429	2.275000	0.75901	0.533000	0.62120	GTT	TGIF1	-	NULL		0.488	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	T	NM_170695		3456358	+1	no_errors	ENST00000330513	ensembl	human	known	70_37	missense	SNP	0.492	G
THAP3	90326	genome.wustl.edu	37	1	6693112	6693112	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:6693112G>A	ENST00000054650.4	+	6	853	c.695G>A	c.(694-696)aGa>aAa	p.R232K	THAP3_ENST00000377627.3_Intron|DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.R231K	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	232							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTCCAGGCCAGACTTGGGCCA	0.642																																																	0													13.0	13.0	13.0					1																	6693112		875	1988	2863	SO:0001583	missense	90326			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.695G>A	1.37:g.6693112G>A	ENSP00000054650:p.Arg232Lys		Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R232K	ENST00000054650.4	37	c.695	CCDS55572.1	1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594063	0.28445	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.94497	-3.44;-3.44	2.99	2.99	0.34606	.	32.028600	0.00166	N	0.000007	D	0.92331	0.7567	L	0.51422	1.61	0.09310	N	1	B;B	0.25904	0.137;0.084	B;B	0.26969	0.075;0.05	T	0.78765	-0.2076	10	0.16896	T	0.51	-11.4381	9.5807	0.39486	0.0:0.0:1.0:0.0	.	231;232	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	K	232;231	ENSP00000054650:R232K;ENSP00000311537:R231K	ENSP00000054650:R232K	R	+	2	0	THAP3	6615699	0.000000	0.05858	0.010000	0.14722	0.159000	0.22180	0.098000	0.15189	1.678000	0.50952	0.462000	0.41574	AGA	THAP3	-	NULL		0.642	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	THAP3	HGNC	protein_coding	OTTHUMT00000004203.1	G	NM_138350		6693112	+1	no_errors	ENST00000054650	ensembl	human	known	70_37	missense	SNP	0.004	A
THEG	51298	genome.wustl.edu	37	19	362260	362260	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:362260C>G	ENST00000342640.4	-	8	1122	c.1080G>C	c.(1078-1080)atG>atC	p.M360I	THEG_ENST00000346878.2_Missense_Mutation_p.M336I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	360					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.M360I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCAAGCTCATAGAGGCGA	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											170.0	170.0	170.0					19																	362260		2203	4300	6503	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1080G>C	19.37:g.362260C>G	ENSP00000340088:p.Met360Ile		A6NMJ8	Missense_Mutation	SNP	smart_THEG	p.M360I	ENST00000342640.4	37	c.1080	CCDS12025.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.014413|2.014413	0.35511|0.35511	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000342640;ENST00000346878|ENST00000530711	T;T|.	0.17691|.	2.26;2.29|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	1.390360|.	0.04399|.	N|.	0.363908|.	T|.	0.21427|.	0.0516|.	N|N	0.08118|0.08118	0|0	0.24770|0.24770	N|N	0.992871|0.992871	B;B|.	0.32160|.	0.358;0.358|.	B;B|.	0.27608|.	0.081;0.081|.	T|.	0.14420|.	-1.0473|.	10|.	0.59425|.	D|.	0.04|.	-14.2884|-14.2884	11.6076|11.6076	0.51041|0.51041	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	336;360|.	Q9P2T0-2;Q9P2T0|.	.;THEG_HUMAN|.	I|S	360;336|138	ENSP00000340088:M360I;ENSP00000264820:M336I|.	ENSP00000340088:M360I|.	M|X	-|-	3|2	0|2	THEG|THEG	313260|313260	0.969000|0.969000	0.33509|0.33509	0.540000|0.540000	0.28089|0.28089	0.654000|0.654000	0.38779|0.38779	2.907000|2.907000	0.48743|0.48743	2.088000|2.088000	0.63022|0.63022	0.650000|0.650000	0.86243|0.86243	ATG|TGA	THEG	-	NULL		0.607	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	C			362260	-1	no_errors	ENST00000342640	ensembl	human	known	70_37	missense	SNP	0.892	G
TMEM63A	9725	genome.wustl.edu	37	1	226054373	226054373	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:226054373G>A	ENST00000366835.3	-	9	846	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	192					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCCAAAGGAGGTCATTGC	0.567																																																	0													104.0	88.0	93.0					1																	226054373		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.576C>T	1.37:g.226054373G>A			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.L192	ENST00000366835.3	37	c.576	CCDS31042.1	1																																																																																			TMEM63A	-	NULL		0.567	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	G	NM_014698		226054373	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	silent	SNP	0.589	A
TMPRSS3	64699	genome.wustl.edu	37	21	43815561	43815561	+	5'UTR	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:43815561G>A	ENST00000291532.3	-	0	921				TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000398405.1_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.A73V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATCCGGCTCCGCCTCCACCTC	0.488																																																	0													57.0	47.0	51.0					21																	43815561		2203	4300	6503	SO:0001623	5_prime_UTR_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.-35C>T	21.37:g.43815561G>A			D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Srcr_rcpt,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A73V	ENST00000291532.3	37	c.218	CCDS13686.1	21	.	.	.	.	.	.	.	.	.	.	G	1.427	-0.571355	0.03882	.	.	ENSG00000160183	ENST00000380399	D	0.87887	-2.31	5.22	-2.96	0.05547	.	1.263530	0.05654	N	0.585732	T	0.78572	0.4304	.	.	.	0.22330	N	0.999193	.	.	.	.	.	.	T	0.64326	-0.6434	6	.	.	.	.	5.9437	0.19207	0.3435:0.0:0.5012:0.1552	.	.	.	.	V	73	ENSP00000369762:A73V	.	A	-	2	0	TMPRSS3	42688630	0.003000	0.15002	0.926000	0.36857	0.576000	0.36127	-0.134000	0.10436	-0.475000	0.06852	-0.294000	0.09567	GCG	TMPRSS3	-	NULL		0.488	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	G			43815561	-1	no_errors	ENST00000380399	ensembl	human	known	70_37	missense	SNP	0.851	A
TNPO2	30000	genome.wustl.edu	37	19	12816128	12816128	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:12816128C>T	ENST00000592287.1	-	17	2056	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E650K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E650*(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGCCCTCGGCCAGGCCG	0.602																																																	2	Substitution - Nonsense(2)	lung(2)											26.0	28.0	28.0					19																	12816128		2151	4253	6404	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1948G>A	19.37:g.12816128C>T	ENSP00000468434:p.Glu650Lys		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E650K	ENST00000592287.1	37	c.1948	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244711	0.79912	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.918;0.989	D	0.83652	0.0156	10	0.66056	D	0.02	-20.3413	18.4706	0.90773	0.0:1.0:0.0:0.0	.	814;650	Q4LE60;O14787	.;TNPO2_HUMAN	K	814;650;650;650;650;650;650	ENSP00000407182:E650K;ENSP00000389648:E650K;ENSP00000397379:E650K;ENSP00000349321:E650K	ENSP00000349321:E650K	E	-	1	0	TNPO2	12677128	1.000000	0.71417	0.994000	0.49952	0.109000	0.19521	7.461000	0.80834	2.654000	0.90174	0.563000	0.77884	GAG	TNPO2	-	superfamily_ARM-type_fold		0.602	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	C	NM_013433		12816128	-1	no_errors	ENST00000425528	ensembl	human	known	70_37	missense	SNP	1.000	T
TRA2B	6434	genome.wustl.edu	37	3	185641776	185641776	+	Intron	DEL	G	G	-			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:185641776delG	ENST00000453386.2	-	4	609				TRA2B_ENST00000382191.4_Intron|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GATTTGCCTAGGGAAAAAAAA	0.353																																																	0													50.0	47.0	48.0					3																	185641776		2203	4300	6503	SO:0001627	intron_variant	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.334-4C>-	3.37:g.185641776delG			B4DVK2|D3DNU3|O15449|Q15815|Q64283	RNA	DEL	-	NULL	ENST00000453386.2	37	NULL	CCDS33905.1	3																																																																																			TRA2B	-	-		0.353	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	G	NM_004593		185641776	-1	no_errors	ENST00000465245	ensembl	human	known	70_37	rna	DEL	0.014	-
TRMU	55687	genome.wustl.edu	37	22	46739244	46739244	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:46739244C>T	ENST00000290846.4	+	3	674	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	TRMU_ENST00000381019.3_Missense_Mutation_p.H112Y|TRMU_ENST00000424260.2_Missense_Mutation_p.H77Y	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	112					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TTGCTTTTTTCATTATGCTGT	0.358																																																	0													125.0	127.0	126.0					22																	46739244		2203	4300	6503	SO:0001583	missense	55687			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.334C>T	22.37:g.46739244C>T	ENSP00000290846:p.His112Tyr		A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.H112Y	ENST00000290846.4	37	c.334	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855729	0.32791	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.72051	-0.62;-0.62;-0.62	4.78	2.61	0.31194	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.410608	0.28989	N	0.013500	T	0.65842	0.2730	L	0.53249	1.67	0.09310	N	1	P;B;B	0.43750	0.816;0.053;0.1	B;B;B	0.41374	0.355;0.053;0.279	T	0.60500	-0.7251	10	0.87932	D	0	-2.224	12.3472	0.55128	0.4719:0.528:0.0:0.0	.	112;112;112	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	Y	112;112;77	ENSP00000290846:H112Y;ENSP00000370407:H112Y;ENSP00000406038:H77Y	ENSP00000290846:H112Y	H	+	1	0	TRMU	45117908	0.002000	0.14202	0.000000	0.03702	0.992000	0.81027	1.519000	0.35888	0.469000	0.27268	0.563000	0.77884	CAT	TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase		0.358	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	C	NM_018006		46739244	+1	no_errors	ENST00000290846	ensembl	human	known	70_37	missense	SNP	0.005	T
TSGA10	80705	genome.wustl.edu	37	2	99757576	99757576	+	Intron	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:99757576C>T	ENST00000393483.3	-	1	225				TSGA10_ENST00000355053.4_Intron|TSGA10_ENST00000542655.1_5'UTR|TSGA10_ENST00000539964.1_Intron|C2ORF15_ENST00000302513.2_5'Flank|C2ORF15_ENST00000409684.1_5'Flank	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CCGGGCTCCTCGGCCCGCCGT	0.682																																																	0																																										SO:0001627	intron_variant	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+13579G>A	2.37:g.99757576C>T			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	RNA	SNP	-	NULL	ENST00000393483.3	37	NULL	CCDS2037.1	2																																																																																			TSGA10	-	-		0.682	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99757576	-1	no_errors	ENST00000489926	ensembl	human	known	70_37	rna	SNP	0.000	T
TTLL10	254173	genome.wustl.edu	37	1	1132485	1132485	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:1132485G>C	ENST00000379290.1	+	15	1704	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q	TTLL10_ENST00000379289.1_Missense_Mutation_p.E511Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	511	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGCTGCTGGAGATGAATTC	0.627																																																	0													46.0	60.0	55.0					1																	1132485		692	1591	2283	SO:0001583	missense	254173			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1531G>C	1.37:g.1132485G>C	ENSP00000368592:p.Glu511Gln		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E511Q	ENST00000379290.1	37	c.1531	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322489	0.81580	.	.	ENSG00000162571	ENST00000379290;ENST00000379289	T;T	0.44482	0.92;0.92	3.71	3.71	0.42584	ATP-grasp fold, subdomain 2 (1);	0.721452	0.12093	U	0.500199	T	0.76407	0.3983	H	0.97564	4.03	0.42164	D	0.991616	D	0.89917	1.0	D	0.81914	0.995	T	0.82339	-0.0506	10	0.87932	D	0	.	13.3183	0.60419	0.0:0.0:1.0:0.0	.	511	Q6ZVT0	TTL10_HUMAN	Q	511	ENSP00000368592:E511Q;ENSP00000368591:E511Q	ENSP00000368591:E511Q	E	+	1	0	TTLL10	1122348	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.730000	0.91510	1.782000	0.52362	0.557000	0.71058	GAG	TTLL10	-	pfam_Tub_tyr_ligase		0.627	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	G	NM_153254		1132485	+1	no_errors	ENST00000379289	ensembl	human	known	70_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179610565	179610565	+	Intron	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:179610565G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5521F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACAGTCAGAAATACCTTT	0.413																																																	0													121.0	120.0	120.0					2																	179610565		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3917C>T	2.37:g.179610565G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S5521F	ENST00000591111.1	37	c.16562		2	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144832	0.57044	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.68903	-0.36	5.94	5.94	0.96194	.	.	.	.	.	T	0.80341	0.4605	M	0.64260	1.97	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.79706	-0.1691	9	0.59425	D	0.04	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	5521	Q8WZ42-6	.	F	5521;802	ENSP00000354117:S5521F	ENSP00000304714:S802F	S	-	2	0	TTN	179318810	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.189000	0.65098	2.816000	0.96949	0.563000	0.77884	TCT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179610565	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	A
TXLNA	200081	genome.wustl.edu	37	1	32660604	32660604	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:32660604G>C	ENST00000373609.1	+	10	1730	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	TXLNA_ENST00000373610.3_Missense_Mutation_p.K483N			P40222	TXLNA_HUMAN	taxilin alpha	483					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCTGAACAAGAGGGTACAGG	0.612																																																	0													65.0	65.0	65.0					1																	32660604		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1449G>C	1.37:g.32660604G>C	ENSP00000362711:p.Lys483Asn		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.K483N	ENST00000373609.1	37	c.1449	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213472	0.58452	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.75367	-0.93;-0.93	5.51	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.27053	0.805	0.58432	D	0.999997	B	0.27765	0.188	B	0.30716	0.119	T	0.60727	-0.7206	10	0.56958	D	0.05	-34.2917	11.5945	0.50964	0.1499:0.0:0.8501:0.0	.	483	P40222	TXLNA_HUMAN	N	483	ENSP00000362712:K483N;ENSP00000362711:K483N	ENSP00000362711:K483N	K	+	3	2	TXLNA	32433191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.198000	0.58419	0.771000	0.33359	0.655000	0.94253	AAG	TXLNA	-	NULL		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32660604	+1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	1.000	C
TXLNA	200081	genome.wustl.edu	37	1	32660659	32660659	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:32660659G>C	ENST00000373609.1	+	10	1785	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.E502Q			P40222	TXLNA_HUMAN	taxilin alpha	502					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642																																																	0													44.0	44.0	44.0					1																	32660659		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1504G>C	1.37:g.32660659G>C	ENSP00000362711:p.Glu502Gln		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E502Q	ENST00000373609.1	37	c.1504	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565148	0.27915	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.33865	1.39;1.39	4.74	3.73	0.42828	.	0.740122	0.12298	N	0.481418	T	0.20659	0.0497	N	0.19112	0.55	0.31616	N	0.650938	B	0.15719	0.014	B	0.08055	0.003	T	0.12682	-1.0538	10	0.14656	T	0.56	-27.083	7.9782	0.30168	0.0877:0.1636:0.7487:0.0	.	502	P40222	TXLNA_HUMAN	Q	502	ENSP00000362712:E502Q;ENSP00000362711:E502Q	ENSP00000362711:E502Q	E	+	1	0	TXLNA	32433246	.	.	0.996000	0.52242	0.793000	0.44817	.	.	2.582000	0.87167	0.563000	0.77884	GAG	TXLNA	-	NULL		0.642	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32660659	+1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	0.939	C
UBE3A	7337	genome.wustl.edu	37	15	25599737	25599737	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:25599737C>T	ENST00000397954.2	-	8	2226	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	UBE3A_ENST00000438097.1_Missense_Mutation_p.E720K|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.E720K|UBE3A_ENST00000232165.3_Missense_Mutation_p.E740K|UBE3A_ENST00000428984.2_Missense_Mutation_p.E720K			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	743					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAGGGAGATTCATTGGTCACC	0.363																																																	0													113.0	116.0	115.0					15																	25599737		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2227G>A	15.37:g.25599737C>T	ENSP00000381045:p.Glu743Lys		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.E743K	ENST00000397954.2	37	c.2227	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.251211	0.95305	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.51803	-0.8659	10	0.13108	T	0.6	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	740;743	Q05086-3;Q05086	.;UBE3A_HUMAN	K	740;740;743;720;720	ENSP00000232165:E740K;ENSP00000381045:E743K;ENSP00000411258:E720K;ENSP00000401265:E720K	ENSP00000232165:E740K	E	-	1	0	UBE3A	23150830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.656000	0.90262	0.591000	0.81541	GAA	UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25599737	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR1	197131	genome.wustl.edu	37	15	43330009	43330009	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:43330009C>T	ENST00000290650.4	-	17	2062	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	UBR1_ENST00000382177.2_Missense_Mutation_p.E662K	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	662					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CGCCACATCTCAGCAACAACC	0.368																																																	0													98.0	80.0	86.0					15																	43330009		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1984G>A	15.37:g.43330009C>T	ENSP00000290650:p.Glu662Lys		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E662K	ENST00000290650.4	37	c.1984	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416840	0.83449	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.49139	0.79;0.79	4.92	4.92	0.64577	.	0.110954	0.64402	D	0.000012	T	0.42517	0.1206	L	0.40543	1.245	0.80722	D	1	B;P	0.42871	0.228;0.792	B;B	0.37731	0.098;0.257	T	0.50285	-0.8846	10	0.72032	D	0.01	-5.825	18.6694	0.91506	0.0:1.0:0.0:0.0	.	662;662	B4DYL2;Q8IWV7	.;UBR1_HUMAN	K	662	ENSP00000290650:E662K;ENSP00000371612:E662K	ENSP00000290650:E662K	E	-	1	0	UBR1	41117301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.061000	0.76699	2.712000	0.92718	0.563000	0.77884	GAG	UBR1	-	NULL		0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	C	NM_174916		43330009	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54630687	54630687	+	Splice_Site	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:54630687G>A	ENST00000260323.11	+	16	4713	c.4713G>A	c.(4711-4713)ccG>ccA	p.P1571P	UNC13C_ENST00000545554.1_Splice_Site_p.P1571P|UNC13C_ENST00000537900.1_Splice_Site_p.P1569P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1571					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAACAGACCCGGTAAGAAAAT	0.363																																																	0													87.0	88.0	88.0					15																	54630687		1819	4095	5914	SO:0001630	splice_region_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4713+1G>A	15.37:g.54630687G>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P1571	ENST00000260323.11	37	c.4713	CCDS45264.1	15																																																																																			UNC13C	-	pfam_Ca-dep_secretion_activator		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	G	NM_173166	Silent	54630687	+1	no_errors	ENST00000260323	ensembl	human	known	70_37	silent	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215807849	215807849	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:215807849C>T	ENST00000307340.3	-	70	15635	c.15249G>A	c.(15247-15249)caG>caA	p.Q5083Q	USH2A_ENST00000366943.2_Silent_p.Q5083Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5083					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCTCTTCTGAAGAGGTA	0.438										HNSCC(13;0.011)																																							0													112.0	112.0	112.0					1																	215807849		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15249G>A	1.37:g.215807849C>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q5083	ENST00000307340.3	37	c.15249	CCDS31025.1	1																																																																																			USH2A	-	NULL		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215807849	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.995	T
USP22	23326	genome.wustl.edu	37	17	20919105	20919105	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:20919105G>A	ENST00000261497.4	-	6	1001	c.798C>T	c.(796-798)ttC>ttT	p.F266F	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.F254F	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	266	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CCGCGATGAGGAACTCGTGGG	0.632																																																	0													48.0	58.0	55.0					17																	20919105		2056	4184	6240	SO:0001819	synonymous_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.798C>T	17.37:g.20919105G>A			A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.F266	ENST00000261497.4	37	c.798	CCDS42285.1	17																																																																																			USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.632	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	G			20919105	-1	no_errors	ENST00000261497	ensembl	human	known	70_37	silent	SNP	1.000	A
VPS13C	54832	genome.wustl.edu	37	15	62258338	62258338	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:62258338C>A	ENST00000261517.5	-	30	3068	c.2995G>T	c.(2995-2997)Gat>Tat	p.D999Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.D956Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D999Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D956Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCATTCTTATCAGCCTGAAAA	0.274																																																	0													57.0	58.0	57.0					15																	62258338		2201	4292	6493	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2995G>T	15.37:g.62258338C>A	ENSP00000261517:p.Asp999Tyr			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D999Y	ENST00000261517.5	37	c.2995	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353843	0.82243	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.35048	1.33;1.33;1.33	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.85130	0.991;0.763;0.997;0.997	T	0.67364	-0.5689	10	0.87932	D	0	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	956;999;956;999	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	956;999;999;999	ENSP00000249837:D956Y;ENSP00000261517:D999Y;ENSP00000379233:D999Y	ENSP00000249837:D956Y	D	-	1	0	VPS13C	60045630	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.940000	0.70187	2.701000	0.92244	0.561000	0.74099	GAT	VPS13C	-	NULL		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62258338	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	A
WBSCR16	81554	genome.wustl.edu	37	7	74486521	74486521	+	Silent	SNP	C	C	T	rs372665821		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:74486521C>T	ENST00000329959.4	-	2	442	c.387G>A	c.(385-387)acG>acA	p.T129T	WBSCR16_ENST00000543840.1_Silent_p.T129T|WBSCR16_ENST00000503250.2_Silent_p.T129T	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	129							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCAGACTTTCGTAACATCCG	0.468																																																	0								C		0,4406		0,0,2203	115.0	111.0	112.0		387	-7.0	0.4	7		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WBSCR16	NM_030798.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		129/465	74486521	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81554			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.387G>A	7.37:g.74486521C>T			D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T129	ENST00000329959.4	37	c.387	CCDS5577.1	7																																																																																			WBSCR16	-	superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.468	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	C	NM_030798		74486521	-1	no_errors	ENST00000329959	ensembl	human	known	70_37	silent	SNP	0.947	T
WDR82	80335	genome.wustl.edu	37	3	52312323	52312323	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:52312323C>T	ENST00000296490.3	-	1	336	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	19					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TCCGAGTTTTCGCGGAACACC	0.637																																																	0													56.0	48.0	50.0					3																	52312323		2055	4196	6251	SO:0001583	missense	80335			AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.55G>A	3.37:g.52312323C>T	ENSP00000296490:p.Glu19Lys		A8K5R5|Q8TEB2	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.E19K	ENST00000296490.3	37	c.55	CCDS2851.2	3	.	.	.	.	.	.	.	.	.	.	C	32	5.113234	0.94339	.	.	ENSG00000164091	ENST00000296490	T	0.60797	0.16	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052645	0.85682	N	0.000000	T	0.51550	0.1681	L	0.45698	1.435	0.80722	D	1	B	0.16802	0.019	B	0.16289	0.015	T	0.51896	-0.8647	10	0.40728	T	0.16	.	15.9516	0.79843	0.0:1.0:0.0:0.0	.	19	Q6UXN9	WDR82_HUMAN	K	19	ENSP00000296490:E19K	ENSP00000296490:E19K	E	-	1	0	WDR82	52287363	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.894000	0.75655	2.068000	0.61886	0.462000	0.41574	GAA	WDR82	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.637	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR82	HGNC	protein_coding	OTTHUMT00000317919.1	C	NM_025222		52312323	-1	no_errors	ENST00000296490	ensembl	human	known	70_37	missense	SNP	1.000	T
WIPF1	7456	genome.wustl.edu	37	2	175436608	175436608	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:175436608G>C	ENST00000392547.2	-	5	1024	c.925C>G	c.(925-927)Ccg>Gcg	p.P309A	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P309A|WIPF1_ENST00000272746.5_Missense_Mutation_p.P309A|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P309A|WIPF1_ENST00000409415.3_Missense_Mutation_p.P309A|WIPF1_ENST00000392546.2_Missense_Mutation_p.P309A|WIPF1_ENST00000467149.1_5'Flank	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	309	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCGGCGGAGGTGGGGCC	0.662																																																	0													23.0	28.0	26.0					2																	175436608		2201	4300	6501	SO:0001583	missense	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.925C>G	2.37:g.175436608G>C	ENSP00000376330:p.Pro309Ala		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P309A	ENST00000392547.2	37	c.925	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429079	0.25726	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.65178	0.64;0.61;0.64;0.64;-0.14;0.46	3.95	3.95	0.45737	.	0.128414	0.52532	D	0.000077	T	0.61022	0.2314	M	0.80746	2.51	0.80722	D	1	B;B;B;B	0.31931	0.347;0.235;0.347;0.235	B;B;B;B	0.32624	0.149;0.071;0.149;0.071	T	0.62501	-0.6841	10	0.37606	T	0.19	.	9.1321	0.36852	0.1059:0.0:0.8941:0.0	.	309;309;309;309	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	A	309	ENSP00000376330:P309A;ENSP00000272746:P309A;ENSP00000352802:P309A;ENSP00000376329:P309A;ENSP00000386431:P309A;ENSP00000387150:P309A	ENSP00000272746:P309A	P	-	1	0	WIPF1	175144854	0.922000	0.31269	0.074000	0.20217	0.229000	0.25112	3.276000	0.51646	1.939000	0.56221	0.430000	0.28490	CCG	WIPF1	-	NULL		0.662	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175436608	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	missense	SNP	0.714	C
ZBTB38	253461	genome.wustl.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:141161785G>C	ENST00000514251.1	+	4	834	c.555G>C	c.(553-555)ttG>ttC	p.L185F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F					zinc finger and BTB domain containing 38									p.L185F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CGCTGGACTTGAGGGCAAGTT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											90.0	85.0	86.0					3																	141161785		1967	4150	6117	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.555G>C	3.37:g.141161785G>C	ENSP00000426387:p.Leu185Phe			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L186F	ENST00000514251.1	37	c.558	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872284	0.51695	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T	0.80304	3.2;2.78;2.78;2.78;-1.36	5.42	3.57	0.40892	.	0.176412	0.37437	N	0.002084	T	0.75034	0.3795	L	0.32530	0.975	0.38463	D	0.947265	D;D	0.53312	0.959;0.959	P;P	0.49085	0.6;0.6	T	0.74884	-0.3512	9	.	.	.	-13.6018	11.1471	0.48436	0.0688:0.2412:0.69:0.0	.	186;185	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	185;185;185;186;185	ENSP00000424254:L185F;ENSP00000426387:L185F;ENSP00000406955:L185F;ENSP00000372635:L186F;ENSP00000422081:L185F	.	L	+	3	2	ZBTB38	142644475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.083000	0.41615	1.389000	0.46526	0.591000	0.81541	TTG	ZBTB38	-	NULL		0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141161785	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	1.000	C
ZER1	10444	genome.wustl.edu	37	9	131503817	131503817	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:131503817C>T	ENST00000291900.2	-	11	2140	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	578					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ACACTACCTTCAGGCAGTCCA	0.567																																																	0													96.0	80.0	85.0					9																	131503817		2203	4300	6503	SO:0001819	synonymous_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1734G>A	9.37:g.131503817C>T			O00156|Q5T272|Q5T273	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.L578	ENST00000291900.2	37	c.1734	CCDS6910.1	9																																																																																			ZER1	-	superfamily_ARM-type_fold,smart_Armadillo		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	C	NM_006336		131503817	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF146	7705	genome.wustl.edu	37	19	36728009	36728009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:36728009C>T	ENST00000443387.2	+	4	1659	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.Q223*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	223	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q223*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCTTCTCTCAGAGCTCATC	0.443																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											165.0	146.0	152.0					19																	36728009		2203	4300	6503	SO:0001587	stop_gained	7705			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.667C>T	19.37:g.36728009C>T	ENSP00000392095:p.Gln223*		Q2TB94	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q223*	ENST00000443387.2	37	c.667	CCDS12492.1	19	.	.	.	.	.	.	.	.	.	.	C	48	13.940454	0.99771	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.3	3.27	0.37495	.	0.000000	0.38326	N	0.001724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.7476	7.1172	0.25423	0.1709:0.7375:0.0:0.0916	.	.	.	.	X	223	.	ENSP00000392095:Q223X	Q	+	1	0	ZNF146	41419849	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.626000	0.05527	1.415000	0.47037	0.561000	0.74099	CAG	ZNF146	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF146	HGNC	protein_coding	OTTHUMT00000451706.1	C	NM_007145		36728009	+1	no_errors	ENST00000443387	ensembl	human	known	70_37	nonsense	SNP	0.543	T
ZNF213	7760	genome.wustl.edu	37	16	3191192	3191192	+	Silent	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:3191192G>A	ENST00000396878.3	+	6	1699	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	ZNF213_ENST00000576416.1_Silent_p.K408K|ZNF213_ENST00000574902.1_Silent_p.K408K|ZNF213_ENST00000416391.2_Silent_p.K250K	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	408					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						ACTGCGGCAAGAGCTTCTCGC	0.662																																																	0													42.0	42.0	42.0					16																	3191192		2197	4300	6497	SO:0001819	synonymous_variant	7760			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1224G>A	16.37:g.3191192G>A			A8K1B9|B4DMG6|Q96IS1	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.K408	ENST00000396878.3	37	c.1224	CCDS10495.1	16																																																																																			ZNF213	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	G	NM_004220		3191192	+1	no_errors	ENST00000396878	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF221	7638	genome.wustl.edu	37	19	44470216	44470216	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:44470216C>T	ENST00000251269.5	+	6	890	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	ZNF221_ENST00000587682.1_Missense_Mutation_p.H188Y|ZNF221_ENST00000592350.1_Missense_Mutation_p.H188Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTGATCTTCATCAACAATC	0.408																																																	0													134.0	124.0	128.0					19																	44470216		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.562C>T	19.37:g.44470216C>T	ENSP00000251269:p.His188Tyr		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H188Y	ENST00000251269.5	37	c.562	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	c	19.28	3.797780	0.70567	.	.	ENSG00000159905	ENST00000251269	D	0.86769	-2.17	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94522	0.8236	H	0.96208	3.785	0.28402	N	0.918599	D	0.67145	0.996	P	0.61592	0.891	D	0.88564	0.3125	9	0.66056	D	0.02	.	12.2846	0.54786	0.0:1.0:0.0:0.0	.	188	Q9UK13	ZN221_HUMAN	Y	188	ENSP00000251269:H188Y	ENSP00000251269:H188Y	H	+	1	0	ZNF221	49162056	0.023000	0.18921	0.237000	0.24090	0.327000	0.28475	1.066000	0.30604	1.430000	0.47334	0.462000	0.41574	CAT	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	C			44470216	+1	no_errors	ENST00000251269	ensembl	human	known	70_37	missense	SNP	0.985	T
ZNF347	84671	genome.wustl.edu	37	19	53652617	53652617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:53652617G>A	ENST00000334197.7	-	3	87	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ZNF347_ENST00000452676.2_Nonsense_Mutation_p.Q7*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.Q7*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AATGTCACCTGTCCCTAAAAT	0.453																																					Melanoma(64;205 1597 17324 45721)												0													70.0	73.0	72.0					19																	53652617		2203	4300	6503	SO:0001587	stop_gained	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.19C>T	19.37:g.53652617G>A	ENSP00000334146:p.Gln7*		B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q7*	ENST00000334197.7	37	c.19	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270914	0.23221	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	2.38	-0.2	0.13216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.9871	0.14196	0.1496:0.2187:0.6318:0.0	.	.	.	.	X	7	.	ENSP00000334146:Q7X	Q	-	1	0	ZNF347	58344429	0.000000	0.05858	0.005000	0.12908	0.071000	0.16799	-0.062000	0.11674	0.338000	0.23692	0.591000	0.81541	CAG	ZNF347	-	superfamily_Krueppel-associated_box		0.453	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	G	NM_032584		53652617	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	nonsense	SNP	0.001	A
ZNF354B	117608	genome.wustl.edu	37	5	178310999	178310999	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:178310999C>G	ENST00000322434.3	+	5	1772	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAATTCATACTGGAGA	0.393																																																	0													98.0	94.0	95.0					5																	178310999		2203	4300	6503	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1546C>G	5.37:g.178310999C>G	ENSP00000327143:p.His516Asp		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H516D	ENST00000322434.3	37	c.1546	CCDS4439.1	5	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438941	0.63067	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85279	0.5660	H	0.94620	3.56	0.41590	D	0.988792	D	0.89917	1.0	D	0.80764	0.994	D	0.89442	0.3724	9	0.87932	D	0	-13.7215	12.9456	0.58371	0.0:1.0:0.0:0.0	.	516	Q96LW1	Z354B_HUMAN	D	516	ENSP00000327143:H516D	ENSP00000327143:H516D	H	+	1	0	ZNF354B	178243605	0.970000	0.33590	0.966000	0.40874	0.896000	0.52359	2.509000	0.45459	1.894000	0.54839	0.555000	0.69702	CAT	ZNF354B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	HGNC	protein_coding	OTTHUMT00000253482.1	C	NM_058230		178310999	+1	no_errors	ENST00000322434	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF541	84215	genome.wustl.edu	37	19	48024519	48024519	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:48024519C>T	ENST00000391901.3	-	15	4002	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	ZNF541_ENST00000314121.4_Missense_Mutation_p.E1354K|ZNF541_ENST00000448976.1_Missense_Mutation_p.E1077K			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	1335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						CCCAGCTCCTCTTCCTTTAGC	0.622																																																	0													81.0	70.0	74.0					19																	48024519		692	1591	2283	SO:0001583	missense	84215			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.4003G>A	19.37:g.48024519C>T	ENSP00000375770:p.Glu1335Lys		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.E1354K	ENST00000391901.3	37	c.4060		19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962463	0.74016	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.16196	2.47;2.4;2.36	5.85	4.82	0.62117	.	0.266926	0.26939	N	0.021722	T	0.22666	0.0547	N	0.19112	0.55	0.24743	N	0.993026	D;D;P	0.61697	0.982;0.99;0.93	P;P;P	0.61940	0.791;0.896;0.77	T	0.08126	-1.0737	9	.	.	.	-22.0665	12.4817	0.55847	0.0:0.9217:0.0:0.0783	.	1354;1077;1335	Q9H0D2;Q9H0D2-2;Q9H0D2-3	ZN541_HUMAN;.;.	K	1335;1354;1077	ENSP00000375770:E1335K;ENSP00000313258:E1354K;ENSP00000410847:E1077K	.	E	-	1	0	ZNF541	52716331	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.587000	0.36622	1.495000	0.48549	-0.126000	0.14955	GAG	ZNF541	-	NULL		0.622	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	C	NM_032255		48024519	-1	no_errors	ENST00000314121	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF550	162972	genome.wustl.edu	37	19	58063842	58063842	+	Intron	SNP	G	G	A			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:58063842G>A	ENST00000457177.1	-	3	431				ZNF550_ENST00000506609.2_Intron|ZNF549_ENST00000594943.1_3'UTR|ZNF549_ENST00000602149.1_Missense_Mutation_p.D97N|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000325134.5_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		gtgctcaccTGATGATGGACA	0.493																																																	0																																										SO:0001627	intron_variant	256051			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.250+152C>T	19.37:g.58063842G>A			B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.D97N	ENST00000457177.1	37	c.289		19																																																																																			ZNF549	-	pfscan_Krueppel-associated_box		0.493	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000257992.2	G	NM_153231		58063842	+1	no_errors	ENST00000602149	ensembl	human	putative	70_37	missense	SNP	0.000	A
ZNF619	285267	genome.wustl.edu	37	3	40529414	40529414	+	Silent	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:40529414C>T	ENST00000314686.5	+	6	1770	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	ZNF619_ENST00000447116.2_Silent_p.F511F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F511F|ZNF619_ENST00000429348.2_Silent_p.F471F|ZNF619_ENST00000522736.1_Silent_p.F462F|ZNF619_ENST00000456778.1_Silent_p.F427F|ZNF619_ENST00000432264.2_Silent_p.F471F			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	455					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGCAAGTTTCATCCAGCATC	0.498																																																	0													113.0	94.0	100.0					3																	40529414		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1365C>T	3.37:g.40529414C>T			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F511	ENST00000314686.5	37	c.1533		3																																																																																			ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529414	+1	no_errors	ENST00000447116	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF619	285267	genome.wustl.edu	37	3	40529424	40529424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:40529424C>T	ENST00000314686.5	+	6	1780	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	ZNF619_ENST00000447116.2_Nonsense_Mutation_p.Q515*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.Q515*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.Q475*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.Q466*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.Q431*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.Q475*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	459					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATCCAGCATCAGAAGTGGCA	0.512																																																	0													117.0	94.0	102.0					3																	40529424		2203	4300	6503	SO:0001587	stop_gained	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1375C>T	3.37:g.40529424C>T	ENSP00000322529:p.Gln459*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q515*	ENST00000314686.5	37	c.1543		3	.	.	.	.	.	.	.	.	.	.	C	36	5.725809	0.96847	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.3	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.9817	0.24706	0.0:0.7118:0.2882:0.0	.	.	.	.	X	459;515;475;431;96;466;515;475	.	ENSP00000322529:Q459X	Q	+	1	0	ZNF619	40504428	0.913000	0.31002	0.888000	0.34837	0.894000	0.52154	0.437000	0.21543	1.301000	0.44836	0.462000	0.41574	CAG	ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529424	+1	no_errors	ENST00000447116	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF627	199692	genome.wustl.edu	37	19	11725659	11725659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:11725659C>T	ENST00000361113.5	+	3	356	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	ZNF627_ENST00000588174.1_Nonsense_Mutation_p.Q50*	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ATGGGAAGACCAGAACATTGA	0.313																																					Melanoma(112;173 1614 10731 17751 23322)												0													19.0	20.0	19.0					19																	11725659		1808	4089	5897	SO:0001587	stop_gained	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.148C>T	19.37:g.11725659C>T	ENSP00000354414:p.Gln50*		O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q50*	ENST00000361113.5	37	c.148	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	c	17.92	3.507725	0.64410	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.98	0.856	0.19019	.	.	.	.	.	.	.	.	.	.	.	0.47584	D	0.999464	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.7563	0.23516	0.0:0.8308:0.0:0.1692	.	.	.	.	X	50	.	ENSP00000354414:Q50X	Q	+	1	0	ZNF627	11586659	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.077000	0.11394	0.130000	0.18549	0.557000	0.71058	CAG	ZNF627	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.313	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1	C	NM_145295		11725659	+1	no_errors	ENST00000361113	ensembl	human	known	70_37	nonsense	SNP	0.008	T
