#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACLY	47	genome.wustl.edu	37	17	40070105	40070105	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:40070105C>G	ENST00000352035.2	-	2	152	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	ACLY_ENST00000537919.1_Missense_Mutation_p.E8Q|ACLY_ENST00000393896.2_Missense_Mutation_p.E8Q|ACLY_ENST00000590151.1_Missense_Mutation_p.E8Q|ACLY_ENST00000353196.1_Missense_Mutation_p.E8Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	8	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGTCTGCTCTGAAATTGCC	0.547																																					Colon(64;807 1396 15971 30971)												0													180.0	159.0	166.0					17																	40070105		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.22G>C	17.37:g.40070105C>G	ENSP00000253792:p.Glu8Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.E8Q	ENST00000352035.2	37	c.22	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806604	0.90623	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	0.981;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.954;0.993;0.993;1.0;0.993	D	0.91640	0.5326	10	0.87932	D	0	.	19.7401	0.96223	0.0:1.0:0.0:0.0	.	8;62;62;8;8	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Q	8;62;8;8;8	ENSP00000253792:E8Q;ENSP00000345398:E8Q;ENSP00000445349:E8Q;ENSP00000377474:E8Q	ENSP00000253792:E8Q	E	-	1	0	ACLY	37323631	1.000000	0.71417	0.971000	0.41717	0.639000	0.38242	7.568000	0.82369	2.735000	0.93741	0.563000	0.77884	GAG	ACLY	-	pirsf_ATP-citrate_synthase		0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	C	NM_001096		40070105	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	missense	SNP	1.000	G
ACOT12	134526	genome.wustl.edu	37	5	80626633	80626633	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:80626633G>A	ENST00000307624.3	-	14	1546	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	506	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCAAACTTACGATGCATGAAT	0.398																																																	0													81.0	76.0	77.0					5																	80626633		2203	4300	6503	SO:0001630	splice_region_variant	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1518+1C>T	5.37:g.80626633G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK9|Q5FWE9	Silent	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd	p.I506	ENST00000307624.3	37	c.1518	CCDS4055.1	5																																																																																			ACOT12	-	pfam_START_lipid-bd,pfscan_START_lipid-bd		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	G	NM_130767	Silent	80626633	-1	no_errors	ENST00000307624	ensembl	human	known	70_37	silent	SNP	0.185	A
ACR	49	genome.wustl.edu	37	22	51183146	51183146	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:51183146C>T	ENST00000216139.5	+	5	817	c.777C>T	c.(775-777)atC>atT	p.I259I	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	259	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCGTGGGAATCACAAGCTGGG	0.592																																																	0													39.0	41.0	40.0					22																	51183146		2202	4300	6502	SO:0001819	synonymous_variant	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.777C>T	22.37:g.51183146C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ICK2	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.I259	ENST00000216139.5	37	c.777	CCDS14101.1	22																																																																																			ACR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6		0.592	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51183146	+1	no_errors	ENST00000216139	ensembl	human	known	70_37	silent	SNP	0.829	T
ADAM8	101	genome.wustl.edu	37	10	135084281	135084281	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:135084281G>A	ENST00000445355.3	-	15	1643	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ADAM8_ENST00000485491.2_Silent_p.F492F|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Silent_p.F531F	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	531					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGTCATAGGAGAAGCAGGACT	0.662																																																	0													24.0	23.0	24.0					10																	135084281		2190	4296	6486	SO:0001819	synonymous_variant	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1593C>T	10.37:g.135084281G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.F531	ENST00000445355.3	37	c.1593	CCDS31319.2	10																																																																																			ADAM8	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.662	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	G	NM_001109		135084281	-1	no_errors	ENST00000445355	ensembl	human	known	70_37	silent	SNP	0.110	A
ALG6	29929	genome.wustl.edu	37	1	63902674	63902674	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:63902674C>G	ENST00000371108.4	+	15	1812	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	ALG6_ENST00000263440.4_Missense_Mutation_p.Q505E|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	503					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.Q503K(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGAAGAAATCAGAAGAAAAT	0.323																																																	1	Substitution - Missense(1)	prostate(1)											70.0	68.0	69.0					1																	63902674		2203	4299	6502	SO:0001583	missense	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1507C>G	1.37:g.63902674C>G	ENSP00000360149:p.Gln503Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.Q505E	ENST00000371108.4	37	c.1513	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291751	0.40594	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	T;T	0.70282	-0.47;-0.47	5.16	5.16	0.70880	.	0.444709	0.26532	N	0.023850	T	0.46229	0.1382	L	0.44542	1.39	0.28343	N	0.921261	B;B	0.23442	0.085;0.062	B;B	0.22386	0.039;0.024	T	0.24512	-1.0158	10	0.26408	T	0.33	-19.3598	13.5795	0.61893	0.1557:0.8443:0.0:0.0	.	250;505	B4DHV8;A2A2G4	.;.	E	503;505;250	ENSP00000360149:Q503E;ENSP00000263440:Q505E	ENSP00000263440:Q505E	Q	+	1	0	ALG6	63675262	1.000000	0.71417	0.992000	0.48379	0.894000	0.52154	2.543000	0.45752	2.583000	0.87209	0.484000	0.47621	CAG	ALG6	-	NULL		0.323	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	C	NM_013339		63902674	+1	no_errors	ENST00000263440	ensembl	human	known	70_37	missense	SNP	1.000	G
AKNAD1	254268	genome.wustl.edu	37	1	109394361	109394361	+	Nonsense_Mutation	SNP	G	G	C	rs139331299	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:109394361G>C	ENST00000370001.3	-	2	1194	c.926C>G	c.(925-927)tCa>tGa	p.S309*	AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.S309*|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.S309*|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	309						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AACACAGTTTGACTCAGGCGT	0.383																																																	0													227.0	222.0	224.0					1																	109394361		2203	4300	6503	SO:0001587	stop_gained	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.926C>G	1.37:g.109394361G>C	ENSP00000359018:p.Ser309*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.S309*	ENST00000370001.3	37	c.926	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609549	0.87258	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.59	3.34	0.38264	.	0.979946	0.08358	N	0.958169	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-3.2947	3.104	0.06335	0.2981:0.2254:0.4765:0.0	.	.	.	.	X	309	.	ENSP00000359011:S309X	S	-	2	0	AKNAD1	109195884	0.002000	0.14202	0.011000	0.14972	0.003000	0.03518	1.139000	0.31504	1.484000	0.48361	0.655000	0.94253	TCA	AKNAD1	-	NULL		0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	G	NM_152763		109394361	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	nonsense	SNP	0.007	C
AIM2	9447	genome.wustl.edu	37	1	159035774	159035774	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:159035774C>T	ENST00000368130.4	-	4	1030	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	248	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTCGGGGTTTCACCAGCTTTT	0.413																																																	0													105.0	100.0	102.0					1																	159035774		2203	4300	6503	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.742G>A	1.37:g.159035774C>T	ENSP00000357112:p.Glu248Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E248K	ENST00000368130.4	37	c.742	CCDS1181.1	1	.	.	.	.	.	.	.	.	.	.	C	1.314	-0.601390	0.03744	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.13778	2.56;2.56	3.34	2.31	0.28768	HIN-200/IF120x (2);	.	.	.	.	T	0.06645	0.0170	L	0.33753	1.03	0.09310	N	1	D	0.55605	0.972	P	0.56788	0.806	T	0.15407	-1.0438	9	0.09084	T	0.74	-7.4912	7.8452	0.29421	0.0:0.7421:0.2579:0.0	.	248	O14862	AIM2_HUMAN	K	248;111	ENSP00000357112:E248K;ENSP00000357111:E111K	ENSP00000357111:E111K	E	-	1	0	AIM2	157302398	0.000000	0.05858	0.016000	0.15963	0.010000	0.07245	-0.929000	0.03976	1.855000	0.53841	0.462000	0.41574	GAA	AIM2	-	pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold-like,pfscan_HIN200/IF120x		0.413	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	C	NM_004833		159035774	-1	no_errors	ENST00000368130	ensembl	human	known	70_37	missense	SNP	0.009	T
ALS2	57679	genome.wustl.edu	37	2	202619275	202619275	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:202619275A>T	ENST00000264276.6	-	6	1963	c.1591T>A	c.(1591-1593)Tgg>Agg	p.W531R		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	531					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTTTCCCCCAGGTCCACACT	0.527																																																	0													102.0	106.0	104.0					2																	202619275		1972	4151	6123	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1591T>A	2.37:g.202619275A>T	ENSP00000264276:p.Trp531Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.W531R	ENST00000264276.6	37	c.1591	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801455	0.90538	.	.	ENSG00000003393	ENST00000264276	D	0.92495	-3.05	5.78	5.78	0.91487	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.99478	1.0947	10	0.87932	D	0	.	16.1063	0.81225	1.0:0.0:0.0:0.0	.	531;531;531	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	R	531	ENSP00000264276:W531R	ENSP00000264276:W531R	W	-	1	0	ALS2	202327520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.714000	0.91412	2.197000	0.70478	0.533000	0.62120	TGG	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	A	NM_020919		202619275	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	missense	SNP	1.000	T
ALS2	57679	genome.wustl.edu	37	2	202619287	202619287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:202619287C>A	ENST00000264276.6	-	6	1951	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	527					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.E527K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTCCACACTTCTGTTCTCAGA	0.542																																																	1	Substitution - Missense(1)	skin(1)											98.0	102.0	101.0					2																	202619287		1970	4156	6126	SO:0001587	stop_gained	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1579G>T	2.37:g.202619287C>A	ENSP00000264276:p.Glu527*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.E527*	ENST00000264276.6	37	c.1579	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.105830	0.99338	.	.	ENSG00000003393	ENST00000264276	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000264276:E527X	E	-	1	0	ALS2	202327532	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.281000	0.78621	2.798000	0.96311	0.655000	0.94253	GAA	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.542	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202619287	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ALX4	60529	genome.wustl.edu	37	11	44289058	44289058	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:44289058C>T	ENST00000329255.3	-	3	995	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	298					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGTAGTTCTCAGCTCGGGTG	0.642																																																	0													139.0	111.0	120.0					11																	44289058		2203	4299	6502	SO:0001583	missense	60529			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.892G>A	11.37:g.44289058C>T	ENSP00000332744:p.Glu298Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.E298K	ENST00000329255.3	37	c.892	CCDS31468.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364673	0.82463	.	.	ENSG00000052850	ENST00000329255	D	0.90955	-2.76	5.01	5.01	0.66863	.	0.054270	0.64402	D	0.000001	D	0.93357	0.7882	L	0.60455	1.87	0.80722	D	1	D	0.58620	0.983	P	0.58130	0.833	D	0.93731	0.7041	10	0.72032	D	0.01	.	18.8626	0.92278	0.0:1.0:0.0:0.0	.	298	Q9H161	ALX4_HUMAN	K	298	ENSP00000332744:E298K	ENSP00000332744:E298K	E	-	1	0	ALX4	44245634	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	7.516000	0.81772	2.768000	0.95171	0.561000	0.74099	GAG	ALX4	-	NULL		0.642	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	C			44289058	-1	no_errors	ENST00000329255	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD30A	91074	genome.wustl.edu	37	10	37431083	37431083	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:37431083G>C	ENST00000602533.1	+	7	1189	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E364Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E364Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	420					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATCGCATGGGAGAAAAAAGA	0.393																																																	0													95.0	94.0	94.0					10																	37431083		1844	4100	5944	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1090G>C	10.37:g.37431083G>C	ENSP00000473551:p.Glu364Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E364Q	ENST00000602533.1	37	c.1090		10	.	.	.	.	.	.	.	.	.	.	.	4.745	0.138459	0.09083	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.51325	0.79;0.71	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.50069	0.1594	L	0.40543	1.245	0.09310	N	1	D	0.57899	0.981	D	0.65140	0.932	T	0.41680	-0.9495	8	0.22706	T	0.39	.	.	.	.	.	420	Q9BXX3	AN30A_HUMAN	Q	364	ENSP00000354432:E364Q;ENSP00000363792:E364Q	ENSP00000354432:E364Q	E	+	1	0	ANKRD30A	37471089	0.168000	0.22989	0.010000	0.14722	0.010000	0.07245	1.450000	0.35134	0.132000	0.18615	0.134000	0.15878	GAG	ANKRD30A	-	NULL		0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	G	NM_052997		37431083	+1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.011	C
ANK3	288	genome.wustl.edu	37	10	61835654	61835654	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:61835654G>C	ENST00000280772.2	-	37	5176	c.4985C>G	c.(4984-4986)tCa>tGa	p.S1662*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1662	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAATAATTGACTTAAATGG	0.398																																																	0													102.0	98.0	100.0					10																	61835654		2203	4300	6503	SO:0001587	stop_gained	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4985C>G	10.37:g.61835654G>C	ENSP00000280772:p.Ser1662*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1662*	ENST00000280772.2	37	c.4985	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.381395	0.99662	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.82	5.82	0.92795	.	0.000000	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	1662	.	ENSP00000280772:S1662X	S	-	2	0	ANK3	61505660	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.476000	0.97823	2.762000	0.94881	0.467000	0.42956	TCA	ANK3	-	NULL		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61835654	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ANKRD44	91526	genome.wustl.edu	37	2	197990563	197990563	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:197990563C>T	ENST00000328737.2	-	5	461	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ANKRD44_ENST00000539527.1_Missense_Mutation_p.E82K|ANKRD44_ENST00000409919.1_Missense_Mutation_p.E154K|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E154K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E129K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E129K|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E146K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	154										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATACCCACCTCCACGTGGCCG	0.507																																																	0													70.0	70.0	70.0					2																	197990563		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.385G>A	2.37:g.197990563C>T	ENSP00000331516:p.Glu129Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E129K	ENST00000328737.2	37	c.385		2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548842	0.86127	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.27;-0.46	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.55103	1.725	0.80722	D	1	P;D	0.63046	0.723;0.992	P;D	0.71870	0.583;0.975	T	0.79843	-0.1632	10	0.66056	D	0.02	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	82;154	F5H682;Q8N8A2-3	.;.	K	146;129;129;129;154;82;154	ENSP00000282272:E146K;ENSP00000331516:E129K;ENSP00000402420:E129K;ENSP00000338794:E129K;ENSP00000387141:E154K;ENSP00000437825:E82K;ENSP00000387233:E154K	ENSP00000282272:E146K	E	-	1	0	ANKRD44	197698808	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	7.609000	0.82925	2.780000	0.95670	0.655000	0.94253	GAG	ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.507	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197990563	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGDIA	396	genome.wustl.edu	37	17	79827245	79827245	+	Silent	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:79827245C>A	ENST00000269321.7	-	4	447	c.312G>T	c.(310-312)ctG>ctT	p.L104L	ARHGDIA_ENST00000584461.1_Silent_p.L104L|ARHGDIA_ENST00000541078.2_Silent_p.L104L|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000581876.1_Intron|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000400721.4_Silent_p.L104L|ARHGDIA_ENST00000580685.1_Silent_p.L104L|ARHGDIA_ENST00000582520.1_5'Flank	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	104					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACCCTCCTTCAGCACAAACG	0.637																																																	0													106.0	125.0	118.0					17																	79827245		2203	4298	6501	SO:0001819	synonymous_variant	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.312G>T	17.37:g.79827245C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.L104	ENST00000269321.7	37	c.312	CCDS11788.1	17																																																																																			ARHGDIA	-	pfam_Rho_GDI,superfamily_Ig_E-set		0.637	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIA	HGNC	protein_coding	OTTHUMT00000441679.2	C	NM_004309		79827245	-1	no_errors	ENST00000269321	ensembl	human	known	70_37	silent	SNP	0.999	A
ARMCX2	9823	genome.wustl.edu	37	X	100911645	100911645	+	Silent	SNP	G	G	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:100911645G>T	ENST00000328766.5	-	5	1383	c.930C>A	c.(928-930)ggC>ggA	p.G310G	ARMCX2_ENST00000330154.2_Silent_p.G310G|ARMCX2_ENST00000356824.4_Silent_p.G310G|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	310						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CAGGACGGAAGCCCATCCCCA	0.597																																																	0													104.0	116.0	112.0					X																	100911645		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.930C>A	X.37:g.100911645G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.G310	ENST00000328766.5	37	c.930	CCDS14490.1	X																																																																																			ARMCX2	-	NULL		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911645	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.998	T
ASB4	51666	genome.wustl.edu	37	7	95157138	95157138	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:95157138C>T	ENST00000325885.5	+	3	572	c.501C>T	c.(499-501)aaC>aaT	p.N167N	ASB4_ENST00000428113.1_Silent_p.N167N	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	167					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGAATGTGAACATGAAGACCA	0.463											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													75.0	67.0	70.0					7																	95157138		2203	4300	6503	SO:0001819	synonymous_variant	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.501C>T	7.37:g.95157138C>T		Somatic	1310	WXS	Illumina HiSeq	Phase_IV	A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.N167	ENST00000325885.5	37	c.501	CCDS5641.1	7																																																																																			ASB4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.463	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	C	NM_016116		95157138	+1	no_errors	ENST00000325885	ensembl	human	known	70_37	silent	SNP	1.000	T
B3GNTL1	146712	genome.wustl.edu	37	17	80963069	80963069	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:80963069C>T	ENST00000320865.3	-	6	439	c.426G>A	c.(424-426)gtG>gtA	p.V142V	B3GNTL1_ENST00000576599.1_Silent_p.V31V|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	142							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GATCTCTCCTCACTCTGCAAC	0.532																																																	0													183.0	156.0	165.0					17																	80963069		2203	4300	6503	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.426G>A	17.37:g.80963069C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GV30|Q8WUT3	Silent	SNP	pfam_Glyco_trans_2	p.V142	ENST00000320865.3	37	c.426	CCDS32778.1	17																																																																																			B3GNTL1	-	pfam_Glyco_trans_2		0.532	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1	C	NM_001009905		80963069	-1	no_errors	ENST00000320865	ensembl	human	known	70_37	silent	SNP	0.928	T
BAI1	575	genome.wustl.edu	37	8	143623644	143623644	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:143623644C>T	ENST00000517894.1	+	28	4943	c.4049C>T	c.(4048-4050)aCg>aTg	p.T1350M	BAI1_ENST00000323289.5_Missense_Mutation_p.T1350M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1350					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCTGCCCACGGCCACGGCC	0.647																																																	0													37.0	47.0	43.0					8																	143623644		2096	4211	6307	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4049C>T	8.37:g.143623644C>T	ENSP00000430945:p.Thr1350Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.T1350M	ENST00000517894.1	37	c.4049		8	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780959	0.49891	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28255	1.62;1.62	4.37	2.47	0.30058	.	0.214782	0.37393	U	0.002107	T	0.32971	0.0847	L	0.36672	1.1	0.22552	N	0.999	D	0.71674	0.998	P	0.54706	0.759	T	0.10753	-1.0616	10	0.72032	D	0.01	.	7.9907	0.30239	0.3245:0.5181:0.1573:0.0	.	1350	E9PBK0	.	M	1350	ENSP00000430945:T1350M;ENSP00000313046:T1350M	ENSP00000313046:T1350M	T	+	2	0	BAI1	143620646	0.933000	0.31639	0.019000	0.16419	0.750000	0.42670	1.023000	0.30065	0.251000	0.21505	0.655000	0.94253	ACG	BAI1	-	NULL		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	C	NM_001702		143623644	+1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	0.502	T
BAIAP2	10458	genome.wustl.edu	37	17	79073865	79073865	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:79073865G>A	ENST00000321300.6	+	7	720	c.627G>A	c.(625-627)gcG>gcA	p.A209A	BAIAP2_ENST00000575245.1_Silent_p.A242A|BAIAP2_ENST00000575712.1_Silent_p.A209A|BAIAP2_ENST00000321280.7_Silent_p.A209A|BAIAP2_ENST00000392411.3_Silent_p.A131A|BAIAP2_ENST00000416299.2_Silent_p.A72A|BAIAP2_ENST00000428708.2_Silent_p.A209A|BAIAP2_ENST00000435091.3_Silent_p.A209A	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	209	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAACTCCGCGGCCTACCACT	0.672																																																	0													26.0	28.0	27.0					17																	79073865		2202	4299	6501	SO:0001819	synonymous_variant	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.627G>A	17.37:g.79073865G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A209	ENST00000321300.6	37	c.627	CCDS11775.1	17																																																																																			BAIAP2	-	pfam_IRSp53/MIM_homology_IMD		0.672	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	G			79073865	+1	no_errors	ENST00000321300	ensembl	human	known	70_37	silent	SNP	0.700	A
BEST3	144453	genome.wustl.edu	37	12	70048731	70048731	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:70048731C>G	ENST00000330891.5	-	10	2189	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.D549H|BEST3_ENST00000488961.1_Missense_Mutation_p.D442H	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	655					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTATGATATCTGTTTCCTTG	0.448																																																	0													142.0	133.0	136.0					12																	70048731		1917	4137	6054	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1963G>C	12.37:g.70048731C>G	ENSP00000332413:p.Asp655His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D655H	ENST00000330891.5	37	c.1963	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485243	0.63962	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98313	-4.59;-4.86;-4.85	5.67	5.67	0.87782	.	0.161882	0.43110	D	0.000612	D	0.98131	0.9383	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.71184	0.862;0.972	D	0.99517	1.0957	10	0.66056	D	0.02	-19.6429	17.5352	0.87829	0.0:1.0:0.0:0.0	.	655;442	Q8N1M1;B5MDI8	BEST3_HUMAN;.	H	442;655;549	ENSP00000433213:D442H;ENSP00000332413:D655H;ENSP00000449548:D549H	ENSP00000332413:D655H	D	-	1	0	BEST3	68334998	0.977000	0.34250	0.624000	0.29186	0.545000	0.35147	4.748000	0.62148	2.680000	0.91292	0.563000	0.77884	GAT	BEST3	-	NULL		0.448	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70048731	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	0.968	G
BRPF1	7862	genome.wustl.edu	37	3	9784651	9784651	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:9784651C>G	ENST00000457855.1	+	6	2018	c.2007C>G	c.(2005-2007)atC>atG	p.I669M	BRPF1_ENST00000383829.2_Missense_Mutation_p.I675M|BRPF1_ENST00000424362.1_Missense_Mutation_p.I669M|BRPF1_ENST00000302054.3_Missense_Mutation_p.I669M|BRPF1_ENST00000433861.2_Missense_Mutation_p.I669M			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	669	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TAGACCACATCAAAAAGCCCA	0.488																																																	0													58.0	59.0	59.0					3																	9784651		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2007C>G	3.37:g.9784651C>G	ENSP00000410210:p.Ile669Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.I675M	ENST00000457855.1	37	c.2025	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367314	0.41902	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.45	4.57	0.56435	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	H	0.99435	4.565	0.48135	D	0.999592	D;D;D;D	0.64830	0.994;0.989;0.989;0.991	D;D;D;D	0.77557	0.99;0.985;0.985;0.988	D	0.83611	0.0134	10	0.87932	D	0	.	9.2329	0.37448	0.0:0.7854:0.0:0.2146	.	669;669;675;669	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	M	669;669;675;669;669	ENSP00000402485:I669M;ENSP00000398863:I669M;ENSP00000373340:I675M;ENSP00000306297:I669M;ENSP00000410210:I669M	ENSP00000306297:I669M	I	+	3	3	BRPF1	9759651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.177000	0.31969	2.549000	0.85964	0.655000	0.94253	ATC	BRPF1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.488	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	C	NM_001003694		9784651	+1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	G
BRS3	680	genome.wustl.edu	37	X	135570306	135570306	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:135570306G>C	ENST00000370648.3	+	1	261	c.33G>C	c.(31-33)caG>caC	p.Q11H	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	11					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CACCTAATCAGACTTTAATTT	0.398																																																	0													81.0	70.0	74.0					X																	135570306		2203	4300	6503	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.33G>C	X.37:g.135570306G>C	ENSP00000359682:p.Gln11His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.Q11H	ENST00000370648.3	37	c.33	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168703	0.38315	.	.	ENSG00000102239	ENST00000370648	T	0.64085	-0.08	6.03	6.03	0.97812	.	1.343300	0.04420	N	0.367465	T	0.62478	0.2431	L	0.40543	1.245	0.40044	D	0.97569	B	0.33448	0.412	B	0.34722	0.188	T	0.36456	-0.9747	10	0.41790	T	0.15	0.0135	15.6426	0.77016	0.0:0.1334:0.8666:0.0	.	11	P32247	BRS3_HUMAN	H	11	ENSP00000359682:Q11H	ENSP00000359682:Q11H	Q	+	3	2	BRS3	135397972	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.974000	0.63771	2.554000	0.86153	0.600000	0.82982	CAG	BRS3	-	NULL		0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	G	NM_001727		135570306	+1	no_errors	ENST00000370648	ensembl	human	known	70_37	missense	SNP	1.000	C
C6orf118	168090	genome.wustl.edu	37	6	165715629	165715629	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:165715629G>C	ENST00000230301.8	-	2	202	c.182C>G	c.(181-183)tCt>tGt	p.S61C	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	61										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)		CAGGTGTCCAGAGATGTAGAG	0.577																																																	0													110.0	121.0	117.0					6																	165715629		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.182C>G	6.37:g.165715629G>C	ENSP00000230301:p.Ser61Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.S61C	ENST00000230301.8	37	c.182	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870708	0.33069	.	.	ENSG00000112539	ENST00000230301	T	0.15372	2.43	5.31	4.39	0.52855	.	0.295570	0.28895	N	0.013782	T	0.28599	0.0708	M	0.65975	2.015	0.33460	D	0.58481	D	0.89917	1.0	D	0.76575	0.988	T	0.03957	-1.0989	10	0.87932	D	0	.	12.6969	0.57010	0.0:0.1659:0.8341:0.0	.	61	Q5T5N4	CF118_HUMAN	C	61	ENSP00000230301:S61C	ENSP00000230301:S61C	S	-	2	0	C6orf118	165635619	0.974000	0.33945	0.020000	0.16555	0.051000	0.14879	3.416000	0.52707	2.484000	0.83849	0.655000	0.94253	TCT	C6orf118	-	NULL		0.577	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	G	NM_144980		165715629	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.142	C
CAMK2G	818	genome.wustl.edu	37	10	75608805	75608805	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:75608805G>A	ENST00000351293.3	-	7	540	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CAMK2G_ENST00000423381.1_Silent_p.A161A|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000372765.1_Silent_p.A161A|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.A161A|CAMK2G_ENST00000322635.3_Silent_p.A161A|CAMK2G_ENST00000322680.3_Silent_p.A161A|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.A161A	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTACTTCGATGGCTAGGCCAA	0.567											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118.0	102.0	107.0					10																	75608805		2203	4300	6503	SO:0001819	synonymous_variant	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.483C>T	10.37:g.75608805G>A		Somatic	1161	WXS	Illumina HiSeq	Phase_IV	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.A161	ENST00000351293.3	37	c.483	CCDS7336.1	10																																																																																			CAMK2G	-	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		0.567	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2G	HGNC	protein_coding	OTTHUMT00000048715.1	G	NM_172169		75608805	-1	no_errors	ENST00000423381	ensembl	human	known	70_37	silent	SNP	1.000	A
CCBL1	883	genome.wustl.edu	37	9	131607662	131607662	+	Missense_Mutation	SNP	C	C	T	rs560525574	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:131607662C>T	ENST00000302586.3	-	2	185	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CCBL1_ENST00000320665.6_Missense_Mutation_p.R8Q|CCBL1_ENST00000436267.2_Missense_Mutation_p.R102Q|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	8					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GTCTAGCCTTCGGGCCTGCAG	0.612													C|||	4	0.000798722	0.0	0.0	5008	,	,		21169	0.0		0.0	False		,,,				2504	0.0041																0													60.0	69.0	66.0					9																	131607662		2091	4205	6296	SO:0001583	missense	883			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.23G>A	9.37:g.131607662C>T	ENSP00000302227:p.Arg8Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T275|Q8N191	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R102Q	ENST00000302586.3	37	c.305	CCDS43884.1	9	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144451	0.57044	.	.	ENSG00000171097	ENST00000302586;ENST00000372610;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084;ENST00000427720	T;T;T;T;T	0.80214	-0.87;-1.35;-0.9;-0.81;0.92	4.88	3.04	0.35103	Pyridoxal phosphate-dependent transferase, major domain (1);	0.260051	0.37809	N	0.001927	T	0.64371	0.2592	L	0.28014	0.82	0.48901	D	0.999724	P;B;P;B;B	0.38677	0.56;0.278;0.642;0.278;0.131	B;B;B;B;B	0.32211	0.028;0.012;0.142;0.012;0.012	T	0.59590	-0.7426	10	0.29301	T	0.29	-3.3328	10.3168	0.43743	0.0:0.8375:0.0:0.1625	.	102;8;8;8;8	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	Q	8;9;8;102;8;8;9	ENSP00000302227:R8Q;ENSP00000317342:R8Q;ENSP00000399415:R102Q;ENSP00000390377:R8Q;ENSP00000412402:R8Q	ENSP00000302227:R8Q	R	-	2	0	CCBL1	130647483	1.000000	0.71417	0.992000	0.48379	0.856000	0.48823	5.116000	0.64661	0.769000	0.33313	-0.150000	0.13652	CGA	CCBL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.612	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBL1	HGNC	protein_coding	OTTHUMT00000054521.2	C			131607662	-1	no_errors	ENST00000436267	ensembl	human	known	70_37	missense	SNP	1.000	T
ACKR4	51554	genome.wustl.edu	37	3	132319907	132319907	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:132319907C>T	ENST00000249887.2	+	2	762	c.666C>T	c.(664-666)atC>atT	p.I222I	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GCTACTTTATCACAGCAAGGA	0.403																																																	0													79.0	78.0	78.0					3																	132319907		2203	4298	6501	SO:0001819	synonymous_variant	51554			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.666C>T	3.37:g.132319907C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9U7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR11,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.I222	ENST00000249887.2	37	c.666	CCDS3075.1	3																																																																																			CCRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.403	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL1	HGNC	protein_coding	OTTHUMT00000357238.2	C	NM_016557		132319907	+1	no_errors	ENST00000249887	ensembl	human	known	70_37	silent	SNP	0.000	T
CDK12	51755	genome.wustl.edu	37	17	37627763	37627763	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:37627763C>T	ENST00000447079.4	+	2	1711	c.1678C>T	c.(1678-1680)Ctt>Ttt	p.L560F	CDK12_ENST00000430627.2_Missense_Mutation_p.L560F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	560					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AATACCAGCTCTTCCACAGCA	0.537			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													217.0	203.0	208.0					17																	37627763		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1678C>T	17.37:g.37627763C>T	ENSP00000398880:p.Leu560Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B2|B4DYX4|B9EIQ6|O94978	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.L560F	ENST00000447079.4	37	c.1678	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840121	0.32513	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69435	-0.4;-0.4	5.89	-8.7	0.00851	.	0.962125	0.08553	N	0.928750	T	0.45216	0.1331	N	0.14661	0.345	0.21220	N	0.999754	B;B;B	0.20459	0.026;0.026;0.045	B;B;B	0.18263	0.009;0.009;0.021	T	0.38457	-0.9660	10	0.56958	D	0.05	1.0734	13.9766	0.64277	0.1264:0.2093:0.6643:0.0	.	559;560;560	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	F	560	ENSP00000407720:L560F;ENSP00000398880:L560F	ENSP00000407720:L560F	L	+	1	0	CDK12	34881289	0.001000	0.12720	0.440000	0.26846	0.662000	0.39071	-0.966000	0.03825	-1.686000	0.01439	-0.165000	0.13383	CTT	CDK12	-	NULL		0.537	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	C	NM_016507		37627763	+1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	0.456	T
CEND1	51286	genome.wustl.edu	37	11	788486	788486	+	Missense_Mutation	SNP	C	C	T	rs149620345		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:788486C>T	ENST00000330106.4	-	2	266	c.91G>A	c.(91-93)Gat>Aat	p.D31N	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	31					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTTTCCCATCGGCTGCCGGG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13509	0.0		0.0	False		,,,				2504	0.0																0								C	ASN/ASP	1,4389		0,1,2194	62.0	80.0	74.0		91	3.6	0.2	11	dbSNP_134	74	0,8590		0,0,4295	no	missense	CEND1	NM_016564.3	23	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	31/150	788486	1,12979	2195	4295	6490	SO:0001583	missense	51286			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.91G>A	11.37:g.788486C>T	ENSP00000328336:p.Asp31Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NYM6	Missense_Mutation	SNP	NULL	p.D31N	ENST00000330106.4	37	c.91	CCDS7714.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738776	0.49045	2.28E-4	0.0	ENSG00000184524	ENST00000330106	.	.	.	3.58	3.58	0.41010	.	0.090204	0.42294	D	0.000730	T	0.46092	0.1375	L	0.27053	0.805	0.28078	N	0.932308	D	0.89917	1.0	D	0.85130	0.997	T	0.23048	-1.0199	9	0.23302	T	0.38	0.0408	10.9506	0.47327	0.0:1.0:0.0:0.0	.	31	Q8N111	CEND_HUMAN	N	31	.	ENSP00000328336:D31N	D	-	1	0	CEND1	778486	0.934000	0.31675	0.180000	0.23079	0.010000	0.07245	3.538000	0.53597	2.286000	0.76751	0.462000	0.41574	GAT	CEND1	-	NULL		0.687	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	C	NM_016564		788486	-1	no_errors	ENST00000330106	ensembl	human	known	70_37	missense	SNP	0.604	T
CHST1	8534	genome.wustl.edu	37	11	45671568	45671568	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:45671568G>A	ENST00000308064.2	-	4	1576	c.906C>T	c.(904-906)taC>taT	p.Y302Y	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	302					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCAGGTCCTCGTAGCGCACCA	0.622																																																	0													79.0	72.0	75.0					11																	45671568		2203	4299	6502	SO:0001819	synonymous_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.906C>T	11.37:g.45671568G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP2	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.Y302	ENST00000308064.2	37	c.906	CCDS7913.1	11																																																																																			CHST1	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.622	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	G	NM_003654		45671568	-1	no_errors	ENST00000308064	ensembl	human	known	70_37	silent	SNP	0.998	A
COL15A1	1306	genome.wustl.edu	37	9	101748328	101748328	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:101748328G>T	ENST00000375001.3	+	3	1005	c.582G>T	c.(580-582)ttG>ttT	p.L194F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	194	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCAGGCTTTGGCTTTTGAGT	0.567																																																	0													39.0	42.0	41.0					9																	101748328		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.582G>T	9.37:g.101748328G>T	ENSP00000364140:p.Leu194Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L194F	ENST00000375001.3	37	c.582	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198278	0.22037	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.07908	3.15	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32010	0.0815	M	0.79805	2.47	0.42695	D	0.993596	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03077	-1.1075	10	0.56958	D	0.05	-9.1119	16.6967	0.85337	0.0:0.0:1.0:0.0	.	194;164	P39059;B3KTP7	COFA1_HUMAN;.	F	194;164	ENSP00000364140:L194F	ENSP00000364140:L194F	L	+	3	2	COL15A1	100788149	1.000000	0.71417	0.065000	0.19835	0.015000	0.08874	3.894000	0.56250	2.608000	0.88229	0.650000	0.86243	TTG	COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855		101748328	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	missense	SNP	0.834	T
CPSF1	29894	genome.wustl.edu	37	8	145624185	145624185	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:145624185G>A	ENST00000349769.3	-	17	1716	c.1622C>T	c.(1621-1623)cCg>cTg	p.P541L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	541					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)			CTTACGCACCGGGGCGATGAC	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													80.0	87.0	85.0					8																	145624185		2203	4300	6503	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.1622C>T	8.37:g.145624185G>A	ENSP00000339353:p.Pro541Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.P541L	ENST00000349769.3	37	c.1622	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	4.864	0.160555	0.09287	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	5.94	5.94	0.96194	.	0.571110	0.20237	N	0.096372	T	0.38321	0.1036	L	0.50333	1.59	0.09310	N	0.999999	B	0.19331	0.035	B	0.16289	0.015	T	0.18461	-1.0336	10	0.38643	T	0.18	-16.7	12.7534	0.57320	0.0:0.0:0.836:0.164	.	541	Q10570	CPSF1_HUMAN	L	541	ENSP00000339353:P541L	ENSP00000339353:P541L	P	-	2	0	CPSF1	145594993	0.841000	0.29509	0.165000	0.22776	0.009000	0.06853	3.380000	0.52448	2.817000	0.96982	0.655000	0.94253	CCG	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145624185	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	0.003	A
DENND2C	163259	genome.wustl.edu	37	1	115166155	115166155	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:115166155C>T	ENST00000393274.1	-	5	1541	c.916G>A	c.(916-918)Gag>Aag	p.E306K	DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.E306K|DENND2C_ENST00000393277.1_Missense_Mutation_p.E306K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	306					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTGTCCTCAGACTGTGTG	0.358																																																	0													101.0	100.0	101.0					1																	115166155		2201	4300	6501	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.916G>A	1.37:g.115166155C>T	ENSP00000376955:p.Glu306Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E306K	ENST00000393274.1	37	c.916	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976617	0.92982	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.41758	2.56;2.97;0.99	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.79805	2.47	0.53005	D	0.999969	D;D	0.89917	0.997;1.0	D;D	0.77557	0.955;0.99	T	0.69591	-0.5104	10	0.87932	D	0	.	17.4663	0.87633	0.0:0.8758:0.1242:0.0	.	306;306	Q68D51;Q68D51-3	DEN2C_HUMAN;.	K	306	ENSP00000376957:E306K;ENSP00000376955:E306K;ENSP00000376958:E306K	ENSP00000358553:E306K	E	-	1	0	DENND2C	114967678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	1.553000	0.49476	0.655000	0.94253	GAG	DENND2C	-	NULL		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115166155	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	T
CRTC2	200186	genome.wustl.edu	37	1	153920586	153920586	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:153920586C>T	ENST00000368633.1	-	14	2208	c.2081G>A	c.(2080-2082)tGa>tAa	p.*694*	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Silent_p.*374*	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	0					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGGTGCCCTCATTGGAGCCG	0.607																																																	0													71.0	59.0	63.0					1																	153920586		2203	4300	6503	SO:0001819	synonymous_variant	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.2081G>A	1.37:g.153920586C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	NULL	p.*694	ENST00000368633.1	37	c.2081	CCDS30875.1	1																																																																																			CRTC2	-	NULL		0.607	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153920586	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	silent	SNP	1.000	T
DHRS12	79758	genome.wustl.edu	37	13	52346018	52346018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:52346018C>T	ENST00000444610.2	-	8	658	c.645G>A	c.(643-645)tgG>tgA	p.W215*	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Nonsense_Mutation_p.W166*|DHRS12_ENST00000218981.1_Nonsense_Mutation_p.W166*	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	215							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCCTTGGGCCCACCGCTCCG	0.587																																																	0													76.0	81.0	79.0					13																	52346018		2203	4300	6503	SO:0001587	stop_gained	79758			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.645G>A	13.37:g.52346018C>T	ENSP00000411565:p.Trp215*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96GB2|Q9H8H1	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.W215*	ENST00000444610.2	37	c.645	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121982	0.56613	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	.	.	.	4.87	3.11	0.35812	.	0.338457	0.28730	U	0.014330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.3004	0.37842	0.163:0.6798:0.1572:0.0	.	.	.	.	X	215;166;166	.	ENSP00000218981:W166X	W	-	3	0	DHRS12	51244019	1.000000	0.71417	0.001000	0.08648	0.079000	0.17450	3.057000	0.49931	0.636000	0.30508	0.557000	0.71058	TGG	DHRS12	-	pfam_Epimerase_deHydtase		0.587	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	C	NM_024705		52346018	-1	no_errors	ENST00000444610	ensembl	human	known	70_37	nonsense	SNP	0.673	T
DNAH5	1767	genome.wustl.edu	37	5	13868031	13868031	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:13868031A>T	ENST00000265104.4	-	25	4009	c.3905T>A	c.(3904-3906)cTg>cAg	p.L1302Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1302	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCATAGTGCAGTGTATCAAC	0.408									Kartagener syndrome																																								0			GRCh37	CD065703	DNAH5	D							122.0	104.0	110.0					5																	13868031		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3905T>A	5.37:g.13868031A>T	ENSP00000265104:p.Leu1302Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_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.L1302Q	ENST00000265104.4	37	c.3905	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242813	0.79912	.	.	ENSG00000039139	ENST00000265104	T	0.31247	1.5	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.64627	0.2615	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74985	-0.3477	10	0.87932	D	0	.	14.9244	0.70866	1.0:0.0:0.0:0.0	.	1302	Q8TE73	DYH5_HUMAN	Q	1302	ENSP00000265104:L1302Q	ENSP00000265104:L1302Q	L	-	2	0	DNAH5	13921031	1.000000	0.71417	0.759000	0.31340	0.827000	0.46813	8.848000	0.92172	1.941000	0.56285	0.533000	0.62120	CTG	DNAH5	-	NULL		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	A	NM_001369		13868031	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.998	T
DOCK7	85440	genome.wustl.edu	37	1	63044519	63044519	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:63044519C>T	ENST00000340370.5	-	17	2007	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	DOCK7_ENST00000251157.5_Missense_Mutation_p.E664K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	664	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTGGTGTTTCAAGAGGAGTA	0.308																																																	0													97.0	97.0	97.0					1																	63044519		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1990G>A	1.37:g.63044519C>T	ENSP00000340742:p.Glu664Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E664K	ENST00000340370.5	37	c.1990	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.428570	0.96131	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.20598	2.07;2.06	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.91635	0.999;0.996;0.997;0.999	T	0.38929	-0.9638	10	0.59425	D	0.04	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	664;664;664;664	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	K	664	ENSP00000251157:E664K;ENSP00000340742:E664K	ENSP00000251157:E664K	E	-	1	0	DOCK7	62817107	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	GAA	DOCK7	-	NULL		0.308	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	C	NM_033407		63044519	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	T
DRG1	4733	genome.wustl.edu	37	22	31823084	31823084	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:31823084C>T	ENST00000331457.4	+	8	1081	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	307					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GATTACACATCCCCAGTGGTG	0.398																																																	0													144.0	133.0	137.0					22																	31823084		2203	4300	6503	SO:0001583	missense	4733			AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.920C>T	22.37:g.31823084C>T	ENSP00000329715:p.Ser307Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S307F	ENST00000331457.4	37	c.920	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679601	0.88542	.	.	ENSG00000185721	ENST00000331457	T	0.18338	2.22	5.96	5.96	0.96718	TGS (1);	0.047096	0.85682	D	0.000000	T	0.36193	0.0958	M	0.79475	2.455	0.80722	D	1	P	0.37083	0.581	P	0.45660	0.489	T	0.06250	-1.0837	10	0.87932	D	0	-27.8884	19.4101	0.94667	0.0:1.0:0.0:0.0	.	307	Q9Y295	DRG1_HUMAN	F	307	ENSP00000329715:S307F	ENSP00000329715:S307F	S	+	2	0	DRG1	30153084	1.000000	0.71417	0.921000	0.36526	0.978000	0.69477	7.298000	0.78815	2.832000	0.97577	0.655000	0.94253	TCC	DRG1	-	pfam_TGS		0.398	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	HGNC	protein_coding	OTTHUMT00000075680.5	C	NM_004147		31823084	+1	no_errors	ENST00000331457	ensembl	human	known	70_37	missense	SNP	0.983	T
DTX3L	151636	genome.wustl.edu	37	3	122287480	122287480	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:122287480G>C	ENST00000296161.4	+	3	733	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	182					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)		CCAAGACATTGAAAGAATACA	0.438																																																	0													110.0	100.0	104.0					3																	122287480		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.544G>C	3.37:g.122287480G>C	ENSP00000296161:p.Glu182Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E182Q	ENST00000296161.4	37	c.544	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075687	0.55646	.	.	ENSG00000163840	ENST00000296161	T	0.34072	1.38	5.5	4.63	0.57726	.	0.000000	0.52532	D	0.000064	T	0.28532	0.0706	L	0.36672	1.1	0.80722	D	1	P	0.49253	0.921	B	0.41271	0.352	T	0.03887	-1.0995	10	0.40728	T	0.16	-19.1227	11.2483	0.49010	0.0838:0.0:0.9162:0.0	.	182	Q8TDB6	DTX3L_HUMAN	Q	182	ENSP00000296161:E182Q	ENSP00000296161:E182Q	E	+	1	0	DTX3L	123770170	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.935000	0.48963	1.561000	0.49584	0.655000	0.94253	GAA	DTX3L	-	NULL		0.438	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	G	NM_138287		122287480	+1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102516087	102516087	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr14:102516087G>A	ENST00000360184.4	+	76	13716	c.13552G>A	c.(13552-13554)Gag>Aag	p.E4518K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4518					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTCGTGCCTGAGGCGTACAT	0.627																																																	0													49.0	45.0	46.0					14																	102516087		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13552G>A	14.37:g.102516087G>A	ENSP00000348965:p.Glu4518Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E4518K	ENST00000360184.4	37	c.13552	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.560108	0.96514	.	.	ENSG00000197102	ENST00000360184	T	0.10382	2.88	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52895	-0.8514	10	0.72032	D	0.01	.	19.2687	0.94000	0.0:0.0:1.0:0.0	.	4518	Q14204	DYHC1_HUMAN	K	4518	ENSP00000348965:E4518K	ENSP00000348965:E4518K	E	+	1	0	DYNC1H1	101585840	1.000000	0.71417	0.965000	0.40720	0.806000	0.45545	9.824000	0.99380	2.533000	0.85409	0.655000	0.94253	GAG	DYNC1H1	-	pfam_Dynein_heavy_dom		0.627	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102516087	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A
ENO1	2023	genome.wustl.edu	37	1	8923388	8923389	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:8923388_8923389insG	ENST00000234590.4	-	10	1200_1201	c.1081_1082insC	c.(1081-1083)cagfs	p.Q361fs		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	361					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)		ACCATTGGCCTGGGCCAGCTTG	0.569											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																																										SO:0001589	frameshift_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.1082dupC	1.37:g.8923391_8923391dupG	ENSP00000234590:p.Gln361fs	Somatic	653	WXS	Illumina HiSeq	Phase_IV	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Frame_Shift_Ins	INS	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.Q361fs	ENST00000234590.4	37	c.1082_1081	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.569	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	NM_001428		8923389	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	G
ENAH	55740	genome.wustl.edu	37	1	225699534	225699534	+	Missense_Mutation	SNP	C	C	T	rs549324711		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:225699534C>T	ENST00000366844.3	-	10	1901	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	ENAH_ENST00000284563.6_Missense_Mutation_p.A731T|ENAH_ENST00000366843.2_Missense_Mutation_p.A484T	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	484	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTGAAGAGGCCTTAGAAGTT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17044	0.0		0.0	False		,,,				2504	0.0																0													38.0	40.0	39.0					1																	225699534		2200	4297	6497	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1450G>A	1.37:g.225699534C>T	ENSP00000355809:p.Ala484Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.A484T	ENST00000366844.3	37	c.1450	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664456	0.47572	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.42900	0.96;0.96;1.0	5.98	1.48	0.22813	.	0.455261	0.21789	N	0.069092	T	0.22666	0.0547	N	0.25426	0.745	0.33625	D	0.605328	B;B	0.32753	0.383;0.138	B;B	0.30943	0.122;0.074	T	0.22417	-1.0217	10	0.19590	T	0.45	-1.668	5.4363	0.16484	0.0:0.4559:0.2729:0.2711	.	484;484	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	T	484;484;731;446	ENSP00000355809:A484T;ENSP00000355808:A484T;ENSP00000284563:A731T	ENSP00000284563:A731T	A	-	1	0	ENAH	223766157	0.990000	0.36364	0.789000	0.31954	0.974000	0.67602	0.330000	0.19715	0.407000	0.25591	0.655000	0.94253	GCC	ENAH	-	NULL		0.323	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225699534	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	missense	SNP	0.520	T
EPG5	57724	genome.wustl.edu	37	18	43532381	43532381	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr18:43532381G>A	ENST00000282041.5	-	3	1271	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	413					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTTGCTGGTGAATTGCTGAA	0.403																																																	0													113.0	104.0	107.0					18																	43532381		1901	4134	6035	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1237C>T	18.37:g.43532381G>A	ENSP00000282041:p.His413Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.H413Y	ENST00000282041.5	37	c.1237	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.324903	0.00229	.	.	ENSG00000152223	ENST00000282041	T	0.80393	-1.37	5.38	2.62	0.31277	.	0.367213	0.24698	N	0.036337	T	0.49983	0.1589	N	0.01482	-0.84	0.21719	N	0.999578	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38993	-0.9635	10	0.19590	T	0.45	-2.7417	6.0124	0.19584	0.22:0.1368:0.6432:0.0	.	413;413	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Y	413	ENSP00000282041:H413Y	ENSP00000282041:H413Y	H	-	1	0	EPG5	41786379	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	2.533000	0.45667	0.349000	0.23975	-0.215000	0.12644	CAC	EPG5	-	NULL		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43532381	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.967	A
ETHE1	23474	genome.wustl.edu	37	19	44030500	44030500	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:44030500C>A	ENST00000292147.2	-	3	294	c.228G>T	c.(226-228)gtG>gtT	p.V76V	ETHE1_ENST00000600651.1_Splice_Site_p.V76V|ZNF575_ENST00000458714.2_Intron	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	76					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|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)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				AGTGGGTATTCACTGGGAGAG	0.637																																																	0													49.0	49.0	49.0					19																	44030500		2203	4300	6503	SO:0001630	splice_region_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.227-1G>T	19.37:g.44030500C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HR0|Q9H001	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.V76	ENST00000292147.2	37	c.228	CCDS12622.1	19																																																																																			ETHE1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.637	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	C	NM_014297	Silent	44030500	-1	no_errors	ENST00000292147	ensembl	human	known	70_37	silent	SNP	1.000	A
FAIM	55179	genome.wustl.edu	37	3	138341033	138341033	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:138341033G>A	ENST00000393035.2	+	3	224	c.115G>A	c.(115-117)Gag>Aag	p.E39K	FAIM_ENST00000393034.2_Missense_Mutation_p.E39K|FAIM_ENST00000360570.3_Missense_Mutation_p.E61K|FAIM_ENST00000464668.1_Missense_Mutation_p.E39K|FAIM_ENST00000338446.4_Missense_Mutation_p.E73K	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	39					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						TATGTAGGAAGAGATAAGAAA	0.318																																																	0													44.0	47.0	46.0					3																	138341033		2201	4299	6500	SO:0001583	missense	55179			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.115G>A	3.37:g.138341033G>A	ENSP00000376755:p.Glu39Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAN2	Missense_Mutation	SNP	pfam_FAIM	p.E73K	ENST00000393035.2	37	c.217	CCDS3103.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921607	0.52653	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.91	5.03	0.67393	.	0.307761	0.34906	N	0.003599	T	0.19366	0.0465	N	0.16478	0.41	0.31163	N	0.704154	B;B;B;B	0.11235	0.001;0.002;0.004;0.001	B;B;B;B	0.12156	0.007;0.002;0.006;0.007	T	0.09862	-1.0655	10	0.62326	D	0.03	-8.6307	8.9645	0.35867	0.1658:0.0:0.8342:0.0	.	39;61;73;39	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2;C9JDZ2	FAIM1_HUMAN;.;.;.	K	73;61;39;39;39;39	ENSP00000342805:E73K;ENSP00000353775:E61K;ENSP00000376755:E39K;ENSP00000376754:E39K;ENSP00000417642:E39K;ENSP00000420543:E39K	ENSP00000342805:E73K	E	+	1	0	FAIM	139823723	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.031000	0.41117	1.498000	0.48600	0.650000	0.86243	GAG	FAIM	-	pfam_FAIM		0.318	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAIM	HGNC	protein_coding	OTTHUMT00000357979.1	G	NM_001033032		138341033	+1	no_errors	ENST00000338446	ensembl	human	known	70_37	missense	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	rs148971572	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000508989.1_Missense_Mutation_p.R237H|FBN2_ENST00000262464.4_Missense_Mutation_p.R270H			P35556	FBN2_HUMAN	fibrillin 2	270					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16211	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	91.0	85.0	87.0		809	5.1	1.0	5	dbSNP_134	87	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	270/2913	127800434	5,13001	2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.809G>A	5.37:g.127800434C>T	ENSP00000424571:p.Arg270His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R270H	ENST00000508053.1	37	c.809	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919560	0.73098	0.001135	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.87334	-2.24;-2.24;-2.24;-0.66	5.07	5.07	0.68467	Matrix fibril-associated (2);	0.153856	0.43110	D	0.000619	D	0.86785	0.6016	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.972;0.987;0.987	D	0.86427	0.1758	10	0.28530	T	0.3	.	19.3313	0.94291	0.0:1.0:0.0:0.0	.	237;270;237;270	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	270;270;237;270	ENSP00000262464:R270H;ENSP00000424571:R270H;ENSP00000425596:R237H;ENSP00000424753:R270H	ENSP00000262464:R270H	R	-	2	0	FBN2	127828333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.729000	0.84864	2.737000	0.93849	0.585000	0.79938	CGC	FBN2	-	superfamily_TB_dom,pirsf_FBN		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127800434	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO42	54455	genome.wustl.edu	37	1	16577862	16577862	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:16577862C>T	ENST00000375592.3	-	10	1673	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	486										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TAGTGATCCTCGTCGGGGGGC	0.483																																																	0													59.0	61.0	60.0					1																	16577862		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1457G>A	1.37:g.16577862C>T	ENSP00000364742:p.Arg486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R486Q	ENST00000375592.3	37	c.1457	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940075	0.34283	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.51574	3.67;0.7;0.7	5.51	5.51	0.81932	.	0.322829	0.30142	N	0.010319	T	0.20170	0.0485	N	0.08118	0	0.38470	D	0.94743	P	0.38745	0.645	B	0.20184	0.028	T	0.22836	-1.0205	10	0.13108	T	0.6	-8.5261	12.1398	0.53993	0.0:0.922:0.0:0.078	.	486	Q6P3S6	FBX42_HUMAN	Q	486;204;204	ENSP00000364742:R486Q;ENSP00000415663:R204Q;ENSP00000412416:R204Q	ENSP00000364742:R486Q	R	-	2	0	FBXO42	16450449	1.000000	0.71417	0.974000	0.42286	0.883000	0.51084	2.148000	0.42235	2.763000	0.94921	0.650000	0.86243	CGA	FBXO42	-	NULL		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577862	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	0.986	T
FBXO42	54455	genome.wustl.edu	37	1	16577905	16577905	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:16577905C>T	ENST00000375592.3	-	10	1630	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	472										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCGTATCCTTCAGGAGCAGAT	0.498																																																	0													44.0	49.0	47.0					1																	16577905		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1414G>A	1.37:g.16577905C>T	ENSP00000364742:p.Glu472Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E472K	ENST00000375592.3	37	c.1414	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250797	0.59212	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.50548	3.79;0.74;0.74	5.51	5.51	0.81932	.	0.320735	0.31472	N	0.007591	T	0.32971	0.0847	N	0.22421	0.69	0.38965	D	0.958623	B	0.26635	0.155	B	0.15870	0.014	T	0.19516	-1.0303	10	0.08179	T	0.78	-8.5656	18.7669	0.91876	0.0:1.0:0.0:0.0	.	472	Q6P3S6	FBX42_HUMAN	K	472;190;190	ENSP00000364742:E472K;ENSP00000415663:E190K;ENSP00000412416:E190K	ENSP00000364742:E472K	E	-	1	0	FBXO42	16450492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.006000	0.63978	2.763000	0.94921	0.650000	0.86243	GAA	FBXO42	-	NULL		0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577905	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXW9	84261	genome.wustl.edu	37	19	12805444	12805444	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:12805444G>C	ENST00000380339.3	-	3	678	c.642C>G	c.(640-642)atC>atG	p.I214M	FBXW9_ENST00000587955.1_Missense_Mutation_p.I204M|FBXW9_ENST00000544494.1_De_novo_Start_OutOfFrame|FBXW9_ENST00000393261.3_Missense_Mutation_p.I214M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	214					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.I214M(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAAGGTCTTGATCAGAACCT	0.572																																																	1	Substitution - Missense(1)	urinary_tract(1)											67.0	75.0	72.0					19																	12805444		2087	4208	6295	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.642C>G	19.37:g.12805444G>C	ENSP00000369696:p.Ile214Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP7|Q9BT89	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I214M	ENST00000380339.3	37	c.642		19	.	.	.	.	.	.	.	.	.	.	G	5.598	0.295089	0.10622	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.20738	2.05;2.05	4.29	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.407296	0.23824	N	0.044211	T	0.20047	0.0482	L	0.42686	1.345	0.80722	D	1	B;B;B	0.16802	0.001;0.0;0.019	B;B;B	0.23018	0.005;0.001;0.043	T	0.07520	-1.0768	10	0.54805	T	0.06	-29.1284	13.8502	0.63492	0.0:0.6341:0.3659:0.0	.	204;214;214	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	M	214	ENSP00000376945:I214M;ENSP00000369696:I214M	ENSP00000369696:I214M	I	-	3	3	FBXW9	12666444	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	0.734000	0.26101	0.412000	0.25729	0.462000	0.41574	ATC	FBXW9	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.572	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		G	NM_032301		12805444	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	missense	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152286055	152286055	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:152286055G>C	ENST00000368799.1	-	3	1342	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	436	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGACACTGATTGTGTGTC	0.592									Ichthyosis																																								0													210.0	207.0	208.0					1																	152286055		2203	4300	6503	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1307C>G	1.37:g.152286055G>C	ENSP00000357789:p.Ser436*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S436*	ENST00000368799.1	37	c.1307	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	31	5.073501	0.94000	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.83	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	9.6354	0.39804	0.0:0.2123:0.7877:0.0	.	.	.	.	X	436	.	ENSP00000357789:S436X	S	-	2	0	FLG	150552679	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.099000	0.11007	0.923000	0.37045	0.505000	0.49811	TCA	FLG	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152286055	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	nonsense	SNP	0.001	C
FNDC1	84624	genome.wustl.edu	37	6	159655334	159655334	+	Missense_Mutation	SNP	C	C	T	rs370423767		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:159655334C>T	ENST00000297267.9	+	11	3990	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1201C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1264					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACTGCCGCCTCGCAGCGCTGC	0.736																																																	0								C	CYS/ARG	0,3966		0,0,1983	10.0	13.0	12.0		3790	2.1	0.0	6		12	1,8217		0,1,4108	no	missense	FNDC1	NM_032532.2	180	0,1,6091	TT,TC,CC		0.0122,0.0,0.0082	probably-damaging	1264/1895	159655334	1,12183	1983	4109	6092	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3790C>T	6.37:g.159655334C>T	ENSP00000297267:p.Arg1264Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1264C	ENST00000297267.9	37	c.3790	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530889|2.530889	0.45073|0.45073	0.0|0.0	1.22E-4|1.22E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09538|.	2.97;3.75|.	4.87|4.87	2.1|2.1	0.27182|0.27182	.|.	1.607750|.	0.03413|.	N|.	0.205095|.	T|T	0.10937|0.10937	0.0267|0.0267	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.67231|.	0.95;0.858|.	T|T	0.29212|0.29212	-1.0019|-1.0019	10|5	0.66056|.	D|.	0.02|.	-7.7282|-7.7282	4.582|4.582	0.12264|0.12264	0.1583:0.6057:0.1527:0.0834|0.1583:0.6057:0.1527:0.0834	.|.	1201;1264|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	C|L	1264;1201|1159	ENSP00000297267:R1264C;ENSP00000342460:R1201C|.	ENSP00000297267:R1264C|.	R|S	+|+	1|2	0|0	FNDC1|FNDC1	159575324|159575324	0.001000|0.001000	0.12720|0.12720	0.032000|0.032000	0.17829|0.17829	0.130000|0.130000	0.20726|0.20726	0.494000|0.494000	0.22467|0.22467	0.475000|0.475000	0.27415|0.27415	0.557000|0.557000	0.71058|0.71058	CGC|TCG	FNDC1	-	NULL		0.736	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159655334	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.004	T
GPATCH3	63906	genome.wustl.edu	37	1	27223812	27223812	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:27223812C>G	ENST00000361720.5	-	2	879	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	286	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGACTCTTCTTCCTCTTCC	0.507																																																	0													188.0	180.0	183.0					1																	27223812		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.856G>C	1.37:g.27223812C>G	ENSP00000354645:p.Glu286Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E286Q	ENST00000361720.5	37	c.856	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895399	0.17613	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.53640	0.61	4.65	4.65	0.58169	.	0.239820	0.40469	N	0.001093	T	0.39759	0.1090	L	0.35723	1.085	0.37055	D	0.897772	B	0.20780	0.048	B	0.13407	0.009	T	0.40942	-0.9536	10	0.41790	T	0.15	-4.0616	15.9128	0.79485	0.0:1.0:0.0:0.0	.	286	Q96I76	GPTC3_HUMAN	Q	286;268;97	ENSP00000354645:E286Q	ENSP00000354645:E286Q	E	-	1	0	GPATCH3	27096399	0.988000	0.35896	0.773000	0.31616	0.084000	0.17831	3.461000	0.53035	2.392000	0.81423	0.655000	0.94253	GAA	GPATCH3	-	NULL		0.507	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223812	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.914	G
GPR155	151556	genome.wustl.edu	37	2	175330601	175330601	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:175330601C>G	ENST00000392552.2	-	7	1534	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	GPR155_ENST00000392551.2_Missense_Mutation_p.W432C|GPR155_ENST00000295500.4_Missense_Mutation_p.W432C	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	432					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TAACAAAATTCCATATCATCA	0.318																																																	0													39.0	42.0	41.0					2																	175330601		2202	4300	6502	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1296G>C	2.37:g.175330601C>G	ENSP00000376335:p.Trp432Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.W432C	ENST00000392552.2	37	c.1296	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227122	0.79576	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.51071	0.72;0.72;0.72	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68258	-0.5456	10	0.87932	D	0	-4.9426	18.7276	0.91720	0.0:1.0:0.0:0.0	.	432	Q7Z3F1	GP155_HUMAN	C	432	ENSP00000376335:W432C;ENSP00000376334:W432C;ENSP00000295500:W432C	ENSP00000295500:W432C	W	-	3	0	GPR155	175038847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.850000	0.98022	0.650000	0.86243	TGG	GPR155	-	NULL		0.318	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	C	NM_152529		175330601	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	missense	SNP	1.000	G
GTPBP2	54676	genome.wustl.edu	37	6	43591721	43591721	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:43591721G>A	ENST00000307126.5	-	8	1184	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	GTPBP2_ENST00000307114.7_Silent_p.L307L|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGCTGTTGGTGAGTGGCGGCA	0.527																																					GBM(116;405 1620 28302 32150 44768)												0													125.0	122.0	123.0					6																	43591721		2203	4300	6503	SO:0001819	synonymous_variant	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1185C>T	6.37:g.43591721G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.L395	ENST00000307126.5	37	c.1185	CCDS4903.1	6																																																																																			GTPBP2	-	NULL		0.527	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	G			43591721	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	silent	SNP	0.961	A
H2AFX	3014	genome.wustl.edu	37	11	118965703	118965703	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:118965703C>G	ENST00000530167.1	-	1	474	c.402G>C	c.(400-402)aaG>aaC	p.K134N		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	134					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGGTGGCCTTCTTGCCGCCCG	0.706								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25.0	28.0	27.0					11																	118965703		2197	4291	6488	SO:0001583	missense	3014			X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.402G>C	11.37:g.118965703C>G	ENSP00000434024:p.Lys134Asn	Somatic	1492	WXS	Illumina HiSeq	Phase_IV	Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K134N	ENST00000530167.1	37	c.402	CCDS8410.1	11	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980740	0.34942	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.90844	-2.74;-2.74	5.34	4.42	0.53409	.	0.000000	0.48767	D	0.000175	D	0.87728	0.6250	M	0.61703	1.905	0.42842	D	0.994053	B	0.29253	0.239	B	0.24006	0.05	D	0.85201	0.1015	10	0.35671	T	0.21	.	12.7327	0.57206	0.165:0.835:0.0:0.0	.	134	P16104	H2AX_HUMAN	N	134	ENSP00000434024:K134N;ENSP00000364310:K134N	ENSP00000364310:K134N	K	-	3	2	H2AFX	118470913	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.254000	0.65457	1.357000	0.45904	-0.319000	0.08680	AAG	H2AFX	-	NULL		0.706	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFX	HGNC	protein_coding	OTTHUMT00000388330.2	C	NM_002105		118965703	-1	no_errors	ENST00000375167	ensembl	human	known	70_37	missense	SNP	1.000	G
H2BFWT	158983	genome.wustl.edu	37	X	103268225	103268225	+	Missense_Mutation	SNP	C	C	T	rs372943452		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:103268225C>T	ENST00000217926.5	-	1	34	c.8G>A	c.(7-9)cGt>cAt	p.R3H	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	3						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R3H(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CACTTCGGTACGCAGCATGGC	0.607																																																	1	Substitution - Missense(1)	endometrium(1)						T	HIS/ARG	0,3833		0,0,1632,569	30.0	25.0	26.0		8	-4.7	0.0	X		26	1,6725		0,1,2427,1870	no	missense	H2BFWT	NM_001002916.3	29	0,1,4059,2439	TT,TC,CC,C		0.0149,0.0,0.0095	benign	3/176	103268225	1,10558	2201	4298	6499	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.8G>A	X.37:g.103268225C>T	ENSP00000354723:p.Arg3His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R3H	ENST00000217926.5	37	c.8	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	4.616	0.114424	0.08831	0.0	1.49E-4	ENSG00000123569	ENST00000217926	T	0.26518	1.73	2.33	-4.66	0.03329	.	.	.	.	.	T	0.10981	0.0268	N	0.19112	0.55	0.09310	N	1	B	0.28055	0.199	B	0.12156	0.007	T	0.11299	-1.0593	9	0.49607	T	0.09	.	2.0885	0.03651	0.1463:0.188:0.4332:0.2325	.	3	Q7Z2G1	H2BWT_HUMAN	H	3	ENSP00000354723:R3H	ENSP00000354723:R3H	R	-	2	0	H2BFWT	103154881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.835000	0.00180	-2.107000	0.00840	-0.949000	0.02662	CGT	H2BFWT	-	NULL		0.607	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	C	NM_001002916		103268225	-1	no_errors	ENST00000217926	ensembl	human	known	70_37	missense	SNP	0.000	T
HERC2	8924	genome.wustl.edu	37	15	28515957	28515957	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:28515957G>C	ENST00000261609.7	-	10	1249	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCGTTGTCTTGTGGAAGGGTG	0.498																																																	0													70.0	53.0	59.0					15																	28515957		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1141C>G	15.37:g.28515957G>C	ENSP00000261609:p.Gln381Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q381E	ENST00000261609.7	37	c.1141	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236968	0.22711	.	.	ENSG00000128731	ENST00000261609	T	0.33438	1.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	N	0.02802	-0.49	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17107	-1.0380	10	0.02654	T	1	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	381	O95714	HERC2_HUMAN	E	381	ENSP00000261609:Q381E	ENSP00000261609:Q381E	Q	-	1	0	HERC2	26189552	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	9.852000	0.99516	2.706000	0.92434	0.650000	0.86243	CAA	HERC2	-	NULL		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28515957	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C
HHIPL2	79802	genome.wustl.edu	37	1	222712018	222712018	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:222712018G>A	ENST00000343410.6	-	5	1607	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	517					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAGATATACAGGCCATTGAGA	0.413																																																	0													116.0	100.0	106.0					1																	222712018		2203	4300	6503	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1549C>T	1.37:g.222712018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.L517	ENST00000343410.6	37	c.1549	CCDS1530.2	1																																																																																			HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH		0.413	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	G	NM_024746		222712018	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	silent	SNP	1.000	A
HOXA4	3201	genome.wustl.edu	37	7	27169043	27169043	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:27169043G>A	ENST00000360046.5	-	2	829	c.764C>T	c.(763-765)tCt>tTt	p.S255F	HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.S255F|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	255					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTGGCGCTCAGACAAACAGAG	0.567																																																	0													215.0	179.0	191.0					7																	27169043		2203	4300	6503	SO:0001583	missense	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.764C>T	7.37:g.27169043G>A	ENSP00000353151:p.Ser255Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S255F	ENST00000360046.5	37	c.764	CCDS5405.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330381	0.81690	.	.	ENSG00000197576	ENST00000360046;ENST00000428284	D;D	0.96365	-3.99;-3.99	5.29	5.29	0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.091143	0.44285	D	0.000469	D	0.98874	0.9619	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99564	1.0969	10	0.87932	D	0	.	18.9816	0.92757	0.0:0.0:1.0:0.0	.	255	Q00056	HXA4_HUMAN	F	255	ENSP00000353151:S255F;ENSP00000408845:S255F	ENSP00000353151:S255F	S	-	2	0	HOXA4	27135568	1.000000	0.71417	0.959000	0.39883	0.988000	0.76386	7.763000	0.85283	2.485000	0.83878	0.555000	0.69702	TCT	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.567	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	G			27169043	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXA4	3201	genome.wustl.edu	37	7	27170293	27170293	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:27170293G>A	ENST00000360046.5	-	1	125	c.60C>T	c.(58-60)ttC>ttT	p.F20F	HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.F20F|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	20	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGTACTCCTCGAAGGGAGGGA	0.602																																																	0													15.0	15.0	15.0					7																	27170293		2202	4297	6499	SO:0001819	synonymous_variant	3201				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.60C>T	7.37:g.27170293G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D180|O43366	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.F20	ENST00000360046.5	37	c.60	CCDS5405.1	7																																																																																			HOXA4	-	NULL		0.602	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	G			27170293	-1	no_errors	ENST00000360046	ensembl	human	known	70_37	silent	SNP	1.000	A
IL18RAP	8807	genome.wustl.edu	37	2	103040354	103040354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:103040354C>T	ENST00000264260.2	+	4	743	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	52					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACCAGAGCCACAGAAATCACA	0.398																																																	0													64.0	63.0	63.0					2																	103040354		2203	4300	6503	SO:0001587	stop_gained	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.154C>T	2.37:g.103040354C>T	ENSP00000264260:p.Gln52*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Nonsense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.Q52*	ENST00000264260.2	37	c.154	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.174292	0.97348	.	.	ENSG00000115607	ENST00000264260	.	.	.	3.93	2.1	0.27182	.	1.533070	0.03666	N	0.243328	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.7034	0.17895	0.0:0.6945:0.1975:0.108	.	.	.	.	X	52	.	ENSP00000264260:Q52X	Q	+	1	0	IL18RAP	102406786	0.000000	0.05858	0.001000	0.08648	0.345000	0.29048	-0.243000	0.08915	0.603000	0.29913	0.563000	0.77884	CAG	IL18RAP	-	NULL		0.398	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	C	NM_003853		103040354	+1	no_errors	ENST00000264260	ensembl	human	known	70_37	nonsense	SNP	0.001	T
ISL1	3670	genome.wustl.edu	37	5	50685569	50685569	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:50685569G>C	ENST00000230658.7	+	4	1153	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.E190Q	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	190					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.E190K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTGCTGAACGAGAAGCAGCT	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											60.0	67.0	64.0					5																	50685569		2203	4300	6503	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.568G>C	5.37:g.50685569G>C	ENSP00000230658:p.Glu190Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P20663|P47894	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.E190Q	ENST00000230658.7	37	c.568	CCDS43314.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.791033|4.791033	0.90367|0.90367	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384|ENST00000505475	D;D|.	0.96041|.	-3.89;-3.89|.	5.82|5.82	4.94|4.94	0.65067|0.65067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55433|0.55433	0.1920|0.1920	N|N	0.20530|0.20530	0.585|0.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.62044|0.62044	-0.6937|-0.6937	10|6	0.66056|0.87932	D|D	0.02|0	.|.	16.2589|16.2589	0.82530|0.82530	0.0:0.0:0.8661:0.1339|0.0:0.0:0.8661:0.1339	.|.	190|.	P61371|.	ISL1_HUMAN|.	Q|P	190|136	ENSP00000230658:E190Q;ENSP00000422676:E190Q|.	ENSP00000230658:E190Q|ENSP00000421737:R136P	E|R	+|+	1|2	0|0	ISL1|ISL1	50721326|50721326	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.985000|0.985000	0.73830|0.73830	9.748000|9.748000	0.98867|0.98867	1.431000|1.431000	0.47355|0.47355	-0.188000|-0.188000	0.12872|0.12872	GAG|CGA	ISL1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.672	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	G	NM_002202		50685569	+1	no_errors	ENST00000230658	ensembl	human	known	70_37	missense	SNP	1.000	C
ITIH5	80760	genome.wustl.edu	37	10	7621922	7621922	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:7621922G>A	ENST00000256861.6	-	9	1292	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.T405M|ITIH5_ENST00000298441.6_Missense_Mutation_p.T191M|ITIH5_ENST00000446830.2_Missense_Mutation_p.T187M|ITIH5_ENST00000397145.2_Missense_Mutation_p.T405M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	405	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T405M(1)		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						CTTCCCATCCGTCAGGAAGAC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											98.0	87.0	91.0					10																	7621922		2203	4300	6503	SO:0001583	missense	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.1214C>T	10.37:g.7621922G>A	ENSP00000256861:p.Thr405Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T405M	ENST00000256861.6	37	c.1214		10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484034	0.84854	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.982;0.97	D	0.95223	0.8335	9	0.87932	D	0	-21.7939	18.9935	0.92803	0.0:0.0:1.0:0.0	.	405;405;191	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	405;405;191;187;405	ENSP00000256861:T405M;ENSP00000380333:T405M;ENSP00000298441:T191M;ENSP00000387969:T187M;ENSP00000380332:T405M	ENSP00000256861:T405M	T	-	2	0	ITIH5	7661928	1.000000	0.71417	0.947000	0.38551	0.676000	0.39594	9.145000	0.94634	2.491000	0.84063	0.561000	0.74099	ACG	ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7621922	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNH5	27133	genome.wustl.edu	37	14	63473102	63473102	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr14:63473102G>A	ENST00000322893.7	-	3	554	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	KCNH5_ENST00000394964.2_Missense_Mutation_p.L38F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L38F|KCNH5_ENST00000420622.2_Missense_Mutation_p.L96F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	96	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGTACAGAAGAACTTCAAAG	0.353																																																	0													94.0	92.0	92.0					14																	63473102		2202	4299	6501	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.286C>T	14.37:g.63473102G>A	ENSP00000321427:p.Leu96Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L96F	ENST00000322893.7	37	c.286	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654220	0.88056	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.35	5.35	0.76521	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;0.996;1.0	D;D;D;D	0.79108	0.985;0.953;0.953;0.992	D	0.92141	0.5720	10	0.62326	D	0.03	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	38;38;96;96	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	F	96;96;38;38	ENSP00000321427:L96F;ENSP00000395439:L96F;ENSP00000378419:L38F;ENSP00000378415:L38F	ENSP00000321427:L96F	L	-	1	0	KCNH5	62542855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.655000	0.90218	0.655000	0.94253	CTT	KCNH5	-	pfam_PAS_fold,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63473102	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNH7	90134	genome.wustl.edu	37	2	163694971	163694971	+	Silent	SNP	G	G	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:163694971G>T	ENST00000332142.5	-	1	157	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	KCNH7_ENST00000328032.4_Silent_p.R20R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	20					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCAAATTTCCGAATGATGGTC	0.567																																					GBM(196;1492 2208 17507 24132 45496)												0													161.0	138.0	146.0					2																	163694971		2203	4300	6503	SO:0001819	synonymous_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.58C>A	2.37:g.163694971G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R20	ENST00000332142.5	37	c.58	CCDS2219.1	2																																																																																			KCNH7	-	NULL		0.567	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	G	NM_033272		163694971	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF17	57576	genome.wustl.edu	37	1	20998569	20998569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:20998569C>A	ENST00000247986.2	-	12	2894	c.2584G>T	c.(2584-2586)Gag>Tag	p.E862*	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Nonsense_Mutation_p.E862*|KIF17_ENST00000375044.1_Nonsense_Mutation_p.E762*			Q9P2E2	KIF17_HUMAN	kinesin family member 17	862					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCACCTGCTCCAGGAGCTGC	0.552																																																	0													83.0	75.0	78.0					1																	20998569		2203	4300	6503	SO:0001587	stop_gained	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2584G>T	1.37:g.20998569C>A	ENSP00000247986:p.Glu862*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E862*	ENST00000247986.2	37	c.2584	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.813794	0.99271	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	.	.	.	5.94	5.04	0.67666	.	0.000000	0.32719	U	0.005729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.5251	0.67881	0.0:0.9301:0.0:0.0699	.	.	.	.	X	762;862;862;243	.	ENSP00000247986:E862X	E	-	1	0	KIF17	20871156	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.314000	0.59166	1.541000	0.49316	-0.224000	0.12420	GAG	KIF17	-	NULL		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	C	NM_020816		20998569	-1	no_errors	ENST00000247986	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KRT2	3849	genome.wustl.edu	37	12	53038879	53038879	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:53038879C>T	ENST00000309680.3	-	9	1865	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	615	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G615V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCCCCACCTCCAGAGCCATA	0.552																																																	1	Substitution - Missense(1)	lung(1)											83.0	87.0	86.0					12																	53038879		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1844G>A	12.37:g.53038879C>T	ENSP00000310861:p.Gly615Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAQ2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G615E	ENST00000309680.3	37	c.1844	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	C	9.622	1.133992	0.21123	.	.	ENSG00000172867	ENST00000309680	D	0.89270	-2.49	4.08	4.08	0.47627	.	.	.	.	.	D	0.86883	0.6040	N	0.08118	0	0.45791	D	0.998675	D	0.89917	1.0	D	0.87578	0.998	D	0.85504	0.1193	9	0.26408	T	0.33	.	13.3738	0.60726	0.0:1.0:0.0:0.0	.	615	P35908	K22E_HUMAN	E	615	ENSP00000310861:G615E	ENSP00000310861:G615E	G	-	2	0	KRT2	51325146	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	3.582000	0.53921	2.010000	0.58986	0.561000	0.74099	GGA	KRT2	-	NULL		0.552	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	C	NM_000423		53038879	-1	no_errors	ENST00000309680	ensembl	human	known	70_37	missense	SNP	1.000	T
LINGO1	84894	genome.wustl.edu	37	15	77906661	77906661	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:77906661C>T	ENST00000355300.6	-	2	1762	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A524T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	530					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGATGAAAGCGAAGGTCTTG	0.647																																																	0													84.0	90.0	88.0					15																	77906661		2138	4220	6358	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1588G>A	15.37:g.77906661C>T	ENSP00000347451:p.Ala530Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A530T	ENST00000355300.6	37	c.1588	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003350	0.35320	.	.	ENSG00000169783	ENST00000355300	T	0.54279	0.58	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.51422	1.61	0.80722	D	1	P	0.44578	0.838	B	0.30401	0.115	T	0.43228	-0.9404	10	0.12430	T	0.62	.	18.7665	0.91874	0.0:1.0:0.0:0.0	.	530	Q96FE5	LIGO1_HUMAN	T	530	ENSP00000347451:A530T	ENSP00000347451:A530T	A	-	1	0	LINGO1	75693716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.428000	0.82296	0.561000	0.74099	GCT	LINGO1	-	NULL		0.647	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	C	NM_032808		77906661	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC40	55631	genome.wustl.edu	37	1	70625092	70625092	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:70625092T>C	ENST00000370952.3	-	10	1220	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	381						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCAGTCTCAGTAGCAGACTCA	0.303																																																	0													89.0	85.0	87.0					1																	70625092		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1141A>G	1.37:g.70625092T>C	ENSP00000359990:p.Thr381Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T381A	ENST00000370952.3	37	c.1141	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	T	0.498	-0.872034	0.02570	.	.	ENSG00000066557	ENST00000370952	T	0.32753	1.44	5.63	-7.19	0.01500	.	1.078540	0.07155	N	0.849792	T	0.03739	0.0106	N	0.17474	0.49	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.34725	-0.9817	10	0.08381	T	0.77	.	9.4894	0.38951	0.0:0.3046:0.3718:0.3235	.	381	Q9H9A6	LRC40_HUMAN	A	381	ENSP00000359990:T381A	ENSP00000359990:T381A	T	-	1	0	LRRC40	70397680	0.002000	0.14202	0.000000	0.03702	0.621000	0.37620	-0.413000	0.07123	-1.836000	0.01190	-1.139000	0.01908	ACT	LRRC40	-	NULL		0.303	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	T	NM_017768		70625092	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	0.000	C
LTK	4058	genome.wustl.edu	37	15	41797683	41797683	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:41797683G>A	ENST00000263800.6	-	14	1839	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	LTK_ENST00000355166.5_Silent_p.L520L|LTK_ENST00000561619.1_Silent_p.L279L|LTK_ENST00000453182.2_Silent_p.L451L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGGTGGCCCTGAGGCTGAGCC	0.572										TSP Lung(18;0.14)																																							0													43.0	43.0	43.0					15																	41797683		2203	4300	6503	SO:0001819	synonymous_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1743C>T	15.37:g.41797683G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L581	ENST00000263800.6	37	c.1743	CCDS10077.1	15																																																																																			LTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	G			41797683	-1	no_errors	ENST00000263800	ensembl	human	known	70_37	silent	SNP	0.097	A
MAGEC3	139081	genome.wustl.edu	37	X	140969327	140969327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:140969327C>A	ENST00000298296.1	+	4	654	c.654C>A	c.(652-654)taC>taA	p.Y218*	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	218	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACACATACACGGGCTACT	0.438																																																	0													165.0	148.0	154.0					X																	140969327		2203	4300	6503	SO:0001587	stop_gained	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.654C>A	X.37:g.140969327C>A	ENSP00000298296:p.Tyr218*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Y218*	ENST00000298296.1	37	c.654	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011995	0.35511	.	.	ENSG00000165509	ENST00000298296	.	.	.	2.26	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7015	0.05149	0.2224:0.2945:0.0:0.4831	.	.	.	.	X	218	.	ENSP00000298296:Y218X	Y	+	3	2	MAGEC3	140796993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.068000	0.14531	-0.796000	0.04456	-0.328000	0.08392	TAC	MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140969327	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	nonsense	SNP	0.000	A
MATN1	4146	genome.wustl.edu	37	1	31189126	31189126	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:31189126G>A	ENST00000373765.4	-	5	872	c.837C>T	c.(835-837)ctC>ctT	p.L279L	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	279	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCGTCAATGAGGAAGACCA	0.557																																																	0													71.0	61.0	65.0					1																	31189126		2203	4300	6503	SO:0001819	synonymous_variant	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.837C>T	1.37:g.31189126G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7E3|Q5TBB9	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A	p.L279	ENST00000373765.4	37	c.837	CCDS336.1	1																																																																																			MATN1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	HGNC	protein_coding	OTTHUMT00000010458.1	G	NM_002379		31189126	-1	no_errors	ENST00000373765	ensembl	human	known	70_37	silent	SNP	1.000	A
MCF2	4168	genome.wustl.edu	37	X	138728984	138728984	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:138728984A>G	ENST00000519895.1	-	3	269	c.104T>C	c.(103-105)aTa>aCa	p.I35T	MCF2_ENST00000414978.1_Missense_Mutation_p.I35T|MCF2_ENST00000370578.4_Missense_Mutation_p.I120T|MCF2_ENST00000520602.1_Missense_Mutation_p.I35T	NM_001171876.1	NP_001165347.1	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACTTTTGCTATTACTTCCTC	0.328																																																	0													57.0	51.0	53.0					X																	138728984		1854	4083	5937	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000519895.1:c.104T>C	X.37:g.138728984A>G	ENSP00000430276:p.Ile35Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I120T	ENST00000519895.1	37	c.359	CCDS55517.1	X	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299758	0.60195	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.7	5.7	0.88788	.	0.219853	0.40554	N	0.001076	T	0.62159	0.2405	L	0.39898	1.24	0.09310	N	0.999998	B;P;P	0.43231	0.425;0.801;0.578	P;B;P	0.48141	0.471;0.412;0.568	T	0.60885	-0.7174	10	0.87932	D	0	.	12.7125	0.57098	1.0:0.0:0.0:0.0	.	35;120;120	E9PH77;B7Z3Z2;Q5JYJ7	.;.;.	T	35;120;35;35	ENSP00000427745:I35T;ENSP00000359610:I120T;ENSP00000397055:I35T;ENSP00000430276:I35T	ENSP00000359610:I120T	I	-	2	0	MCF2	138556650	0.319000	0.24607	0.633000	0.29310	0.995000	0.86356	5.835000	0.69368	1.909000	0.55274	0.486000	0.48141	ATA	MCF2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.328	MCF2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000377602.1	A	NM_005369		138728984	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	missense	SNP	0.235	G
MDM1	56890	genome.wustl.edu	37	12	68709007	68709007	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:68709007G>A	ENST00000303145.7	-	9	1306	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	MDM1_ENST00000411698.2_Missense_Mutation_p.S372F|MDM1_ENST00000540418.1_Missense_Mutation_p.S127F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	407					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGTTCTGTAGAAGGACATTT	0.393																																																	0													75.0	80.0	78.0					12																	68709007		2203	4300	6503	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1220C>T	12.37:g.68709007G>A	ENSP00000302537:p.Ser407Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.S407F	ENST00000303145.7	37	c.1220	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	12.45	1.943127	0.34283	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.26810	1.71;1.71;1.71	4.45	3.54	0.40534	.	0.991180	0.08205	N	0.981626	T	0.34483	0.0899	L	0.34521	1.04	0.22719	N	0.998816	D;B	0.56968	0.978;0.003	P;B	0.56700	0.804;0.007	T	0.25502	-1.0130	9	.	.	.	-0.7536	11.7823	0.52021	0.0:0.1781:0.8219:0.0	.	372;407	E7EPQ3;Q8TC05	.;MDM1_HUMAN	F	127;407;372	ENSP00000443815:S127F;ENSP00000302537:S407F;ENSP00000391006:S372F	.	S	-	2	0	MDM1	66995274	0.836000	0.29430	0.012000	0.15200	0.704000	0.40688	2.321000	0.43805	1.197000	0.43143	0.561000	0.74099	TCT	MDM1	-	NULL		0.393	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	G	NM_020128		68709007	-1	no_errors	ENST00000303145	ensembl	human	known	70_37	missense	SNP	0.010	A
MDS2	259283	genome.wustl.edu	37	1	23953539	23953542	+	5'Flank	DEL	GAGA	GAGA	-	rs146024280		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	GAGA	GAGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:23953539_23953542delGAGA	ENST00000374555.3	+	0	0				MDS2_ENST00000477916.1_3'UTR			Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated							extracellular space (GO:0005615)				breast(1)|ovary(2)	3						AAAGGGAGGGGAGAGAGAGAGAGA	0.539			T	ETV6	MDS																																			Dom	yes		1	1p36	259283	myelodysplastic syndrome 2		L	0										18,338,2272		3,0,12,23,292,984						-0.9	0.0		dbSNP_134	10	42,668,4318		8,0,26,24,620,1836	no	intergenic				11,0,38,47,912,2820	A1A1,A1A2,A1R,A2A2,A2R,RR		14.1209,13.5464,13.9237				60,1006,6590				SO:0001631	upstream_gene_variant	259283			AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927		1.37:g.23953547_23953550delGAGA	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000374555.3	37	NULL		1																																																																																			MDS2	-	-		0.539	MDS2-001	KNOWN	basic|appris_principal	protein_coding	MDS2	HGNC	protein_coding	OTTHUMT00000008172.1	GAGA	NM_148895		23953542	+1	no_errors	ENST00000477916	ensembl	human	known	70_37	rna	DEL	0.001:0.001:0.000:0.000	-
MED12	9968	genome.wustl.edu	37	X	70348264	70348264	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrX:70348264T>C	ENST00000374080.3	+	23	3360	c.3328T>C	c.(3328-3330)Ttc>Ctc	p.F1110L	MED12_ENST00000374102.1_Missense_Mutation_p.F1110L|MED12_ENST00000333646.6_Missense_Mutation_p.F1110L			Q93074	MED12_HUMAN	mediator complex subunit 12	1110					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACTTGTGGTTTCAACGATCT	0.547			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													149.0	137.0	141.0					X																	70348264		2120	4227	6347	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3328T>C	X.37:g.70348264T>C	ENSP00000363193:p.Phe1110Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.F1110L	ENST00000374080.3	37	c.3328	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	25.0	4.593752	0.86953	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.992;0.999;0.998	D;D;D;D	0.79784	0.993;0.91;0.978;0.984	T	0.68538	-0.5382	10	0.87932	D	0	-17.9803	13.4703	0.61278	0.0:0.0:0.0:1.0	.	1110;957;1110;1110	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1110;1110;1110;1110;1078	ENSP00000333125:F1110L;ENSP00000363215:F1110L;ENSP00000363193:F1110L;ENSP00000414203:F1078L	ENSP00000333125:F1110L	F	+	1	0	MED12	70264989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.302000	0.78861	1.821000	0.53095	0.486000	0.48141	TTC	MED12	-	NULL		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	T	NM_005120		70348264	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	C
TPM3	7170	genome.wustl.edu	37	1	154166153	154166153	+	5'Flank	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:154166153G>C	ENST00000368530.2	-	0	0				MIR190B_ENST00000401119.1_RNA|TPM3_ENST00000271850.7_5'Flank	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GCTGCTGTAAGAATATGTTTG	0.453			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													78.0	79.0	79.0					1																	154166153		1568	3582	5150	SO:0001631	upstream_gene_variant	100126346			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853		1.37:g.154166153G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			MIR190B	-	-		0.453	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR190B	HGNC	protein_coding	OTTHUMT00000087271.2	G	NM_152263		154166153	-1	no_errors	ENST00000401119	ensembl	human	known	70_37	rna	SNP	1.000	C
MT-ND2	4536	genome.wustl.edu	37	M	2690	2690	+	5'Flank	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chrM:2690G>A	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						attgacctgcccgtgaagagg	0.443																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2690G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.443	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		2690	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
MRVI1	10335	genome.wustl.edu	37	11	10622540	10622540	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr11:10622540C>G	ENST00000436272.1	-	14	1939	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	MRVI1_ENST00000552103.1_Missense_Mutation_p.E557Q|MRVI1_ENST00000547195.1_Missense_Mutation_p.E557Q|MRVI1_ENST00000545852.1_Missense_Mutation_p.E333Q|MRVI1_ENST00000558540.1_Missense_Mutation_p.E333Q|MRVI1_ENST00000541483.1_Missense_Mutation_p.E442Q|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.E557Q|MRVI1_ENST00000424001.1_Missense_Mutation_p.E333Q|MRVI1_ENST00000534266.2_Missense_Mutation_p.E333Q|MRVI1_ENST00000531107.1_Missense_Mutation_p.E640Q|MRVI1_ENST00000421747.1_Missense_Mutation_p.E639Q|MRVI1_ENST00000423302.2_Missense_Mutation_p.E648Q|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	621					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGTCCTTCTCATACGTCCTC	0.522																																																	0													221.0	217.0	218.0					11																	10622540		1967	4147	6114	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1861G>C	11.37:g.10622540C>G	ENSP00000412229:p.Glu621Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.E639Q	ENST00000436272.1	37	c.1915		11	.	.	.	.	.	.	.	.	.	.	C	32	5.110514	0.94292	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.26883	-1.0090	10	0.52906	T	0.07	-16.5594	19.2679	0.93997	0.0:1.0:0.0:0.0	.	442;621;640;639	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	Q	639;622;621;557;557;333;333;648;442;640;557	ENSP00000414598:E639Q;ENSP00000412229:E621Q;ENSP00000448278:E557Q;ENSP00000446764:E557Q;ENSP00000441971:E333Q;ENSP00000401205:E333Q;ENSP00000412130:E648Q;ENSP00000437784:E442Q;ENSP00000432436:E640Q;ENSP00000432067:E557Q	ENSP00000307885:E622Q	E	-	1	0	MRVI1	10579116	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.487000	0.81328	2.557000	0.86248	0.557000	0.71058	GAG	MRVI1	-	pfam_MRVI1		0.522	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10622540	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G
NABP2	79035	genome.wustl.edu	37	12	56618691	56618691	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:56618691G>A	ENST00000380198.2	+	1	549	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RNF41_ENST00000345093.4_5'Flank|RNF41_ENST00000552656.1_5'Flank|NABP2_ENST00000267023.4_Silent_p.L17L|RNF41_ENST00000394013.2_5'Flank|NABP2_ENST00000341463.5_Silent_p.L17L			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	17					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCAAGAATCTGAACCTTATCT	0.577											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134.0	120.0	125.0					12																	56618691		2203	4300	6503	SO:0001819	synonymous_variant	79035			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.51G>A	12.37:g.56618691G>A		Somatic	1016	WXS	Illumina HiSeq	Phase_IV	A6NDF8|Q6XYC8	Silent	SNP	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	p.L17	ENST00000380198.2	37	c.51	CCDS8911.1	12																																																																																			NABP2	-	superfamily_NA-bd_OB-fold-like		0.577	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1	G	NM_024068		56618691	+1	no_errors	ENST00000267023	ensembl	human	known	70_37	silent	SNP	1.000	A
NDUFS4	4724	genome.wustl.edu	37	5	52979020	52979020	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:52979020G>C	ENST00000296684.5	+	5	525	c.497G>C	c.(496-498)tGg>tCg	p.W166S		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	166					brain development (GO:0007420)|cAMP-mediated signaling (GO:0019933)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|positive regulation of fibroblast proliferation (GO:0048146)|reactive oxygen species metabolic process (GO:0072593)|regulation of protein phosphorylation (GO:0001932)|respiratory electron transport chain (GO:0022904)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)				AACTTTTCTTGGAACAAAAGA	0.388																																																	0													108.0	113.0	111.0					5																	52979020		2203	4300	6503	SO:0001583	missense	4724			AF020351	CCDS3960.1	5q11.1	2011-07-04	2002-08-29		ENSG00000164258	ENSG00000164258		"""Mitochondrial respiratory chain complex / Complex I"""	7711	protein-coding gene	gene with protein product	"""complex I 18kDa subunit"""	602694	"""NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)"""			9463323, 9763677	Standard	NM_002495		Approved	AQDQ, CI-18	uc003jpe.2	O43181	OTTHUMG00000096987	ENST00000296684.5:c.497G>C	5.37:g.52979020G>C	ENSP00000296684:p.Trp166Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BS69	Missense_Mutation	SNP	pfam_NADH_UbQ_FeS_4_mit	p.W166S	ENST00000296684.5	37	c.497	CCDS3960.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373218	0.82573	.	.	ENSG00000164258	ENST00000296684	T	0.76709	-1.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86731	0.1948	10	0.48119	T	0.1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	166	O43181	NDUS4_HUMAN	S	166	ENSP00000296684:W166S	ENSP00000296684:W166S	W	+	2	0	NDUFS4	53014777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.826000	0.97356	0.655000	0.94253	TGG	NDUFS4	-	pfam_NADH_UbQ_FeS_4_mit		0.388	NDUFS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS4	HGNC	protein_coding	OTTHUMT00000214062.2	G	NM_002495		52979020	+1	no_errors	ENST00000296684	ensembl	human	known	70_37	missense	SNP	1.000	C
NHP2L1	4809	genome.wustl.edu	37	22	42071172	42071172	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:42071172G>C	ENST00000401959.1	-	4	468	c.152C>G	c.(151-153)tCt>tGt	p.S51C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.S51C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.S51C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.S55C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	51					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GATGAACTCAGAGATGCCCCT	0.557																																																	0													65.0	63.0	64.0					22																	42071172		2203	4300	6503	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.152C>G	22.37:g.42071172G>C	ENSP00000383949:p.Ser51Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok	p.S51C	ENST00000401959.1	37	c.152	CCDS14022.1	22	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420346	0.62622	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.176164	0.50627	D	0.000107	T	0.52837	0.1759	L	0.45470	1.425	0.58432	D	0.999994	B	0.24258	0.1	B	0.31245	0.126	T	0.48948	-0.8989	10	0.42905	T	0.14	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	51	P55769	NH2L1_HUMAN	C	51;51;51;55	ENSP00000347401:S51C;ENSP00000215956:S51C;ENSP00000383949:S51C;ENSP00000383989:S55C	ENSP00000215956:S51C	S	-	2	0	NHP2L1	40401118	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.666000	0.90696	0.591000	0.81541	TCT	NHP2L1	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_Ribosomal_L7Ae_prok		0.557	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NHP2L1	HGNC	protein_coding	OTTHUMT00000321682.1	G	NM_001003796		42071172	-1	no_errors	ENST00000215956	ensembl	human	known	70_37	missense	SNP	1.000	C
NRP2	8828	genome.wustl.edu	37	2	206630245	206630245	+	Silent	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr2:206630245C>A	ENST00000357785.5	+	14	2386	c.2355C>A	c.(2353-2355)gcC>gcA	p.A785A	AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357118.4_Silent_p.A785A|NRP2_ENST00000540841.1_Silent_p.A785A|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000412873.2_Silent_p.A785A|NRP2_ENST00000272849.3_Silent_p.A785A|NRP2_ENST00000540178.1_Silent_p.A785A|NRP2_ENST00000360409.3_Silent_p.A785A			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGAGATTGCCATTGATGACA	0.468																																																	0													279.0	261.0	267.0					2																	206630245		2203	4300	6503	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2355C>A	2.37:g.206630245C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.A785	ENST00000357785.5	37	c.2355	CCDS46496.1	2																																																																																			NRP2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pirsf_Neuropilin,pfscan_MAM_dom,prints_MAM_dom		0.468	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	C			206630245	+1	no_errors	ENST00000360409	ensembl	human	known	70_37	silent	SNP	1.000	A
NTMT1	28989	genome.wustl.edu	37	9	132397623	132397623	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:132397623C>T	ENST00000372486.1	+	4	901	c.552C>T	c.(550-552)tgC>tgT	p.C184C	NTMT1_ENST00000372480.1_Silent_p.C184C|NTMT1_ENST00000482347.1_Silent_p.C96C|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Silent_p.C184C			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	184					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GCAGCGTGTGCCGGGACCTTG	0.627																																																	0													126.0	104.0	111.0					9																	132397623		2203	4300	6503	SO:0001819	synonymous_variant	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.552C>T	9.37:g.132397623C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.C184	ENST00000372486.1	37	c.552	CCDS35160.1	9																																																																																			NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik		0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	C	NM_014064		132397623	+1	no_errors	ENST00000372480	ensembl	human	known	70_37	silent	SNP	1.000	T
OR2T6	254879	genome.wustl.edu	37	1	248550938	248550938	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:248550938G>A	ENST00000355728.2	+	1	29	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTGACCAGAGGCTTTACC	0.408																																																	0													112.0	112.0	112.0					1																	248550938		2203	4300	6503	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.29G>A	1.37:g.248550938G>A	ENSP00000347965:p.Arg10Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R10K	ENST00000355728.2	37	c.29	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000747	0.35320	.	.	ENSG00000198104	ENST00000355728	T	0.00362	7.84	4.9	1.48	0.22813	.	0.737577	0.12284	N	0.482643	T	0.00109	0.0003	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34875	-0.9811	10	0.72032	D	0.01	.	3.9511	0.09369	0.0976:0.4343:0.3319:0.1363	.	10	Q8NHC8	OR2T6_HUMAN	K	10	ENSP00000347965:R10K	ENSP00000347965:R10K	R	+	2	0	OR2T6	246617561	0.000000	0.05858	0.096000	0.21009	0.028000	0.11728	0.005000	0.13129	0.549000	0.28973	0.643000	0.83706	AGA	OR2T6	-	NULL		0.408	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	G	NM_001005471		248550938	+1	no_errors	ENST00000355728	ensembl	human	known	70_37	missense	SNP	0.008	A
PCDHB15	56121	genome.wustl.edu	37	5	140627400	140627400	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:140627400G>A	ENST00000231173.3	+	1	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	752					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.552																																																	0													111.0	124.0	120.0					5																	140627400		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2254G>A	5.37:g.140627400G>A	ENSP00000231173:p.Glu752Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E752K	ENST00000231173.3	37	c.2254	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705997	0.68615	.	.	ENSG00000113248	ENST00000231173	T	0.14766	2.48	4.34	4.34	0.51931	.	.	.	.	.	T	0.19685	0.0473	M	0.75884	2.315	0.48511	D	0.999663	P	0.41345	0.746	B	0.36504	0.226	T	0.12863	-1.0531	9	0.59425	D	0.04	.	16.8736	0.86045	0.0:0.0:1.0:0.0	.	752	Q9Y5E8	PCDBF_HUMAN	K	752	ENSP00000231173:E752K	ENSP00000231173:E752K	E	+	1	0	PCDHB15	140607584	0.998000	0.40836	0.998000	0.56505	0.854000	0.48673	3.144000	0.50616	2.150000	0.67090	0.556000	0.70494	GAG	PCDHB15	-	NULL		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140627400	+1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	1.000	A
PHC2	1912	genome.wustl.edu	37	1	33794581	33794581	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:33794581A>C	ENST00000257118.5	-	13	2365	c.2312T>G	c.(2311-2313)cTc>cGc	p.L771R	PHC2_ENST00000373422.3_Missense_Mutation_p.L377R|PHC2_ENST00000431992.1_Missense_Mutation_p.L742R|PHC2_ENST00000373416.1_Missense_Mutation_p.L236R|PHC2_ENST00000419414.2_Missense_Mutation_p.L772R|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.L236R	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	771					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATGTCGGGGAGCTCCAGGTC	0.577																																																	0													88.0	86.0	86.0					1																	33794581		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2312T>G	1.37:g.33794581A>C	ENSP00000257118:p.Leu771Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.L772R	ENST00000257118.5	37	c.2315	CCDS378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.01|14.01	2.407751|2.407751	0.42715|0.42715	.|.	.|.	ENSG00000134686|ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416|ENST00000307890	T;T;T;T|.	0.48201|.	1.83;1.4;0.82;1.82|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.381514|.	0.27976|.	N|.	0.017097|.	T|T	0.34658|0.34658	0.0905|0.0905	N|N	0.08118|0.08118	0|0	0.41378|0.41378	D|D	0.98753|0.98753	B;B;B;B|.	0.23185|.	0.02;0.02;0.02;0.081|.	B;B;B;B|.	0.23852|.	0.006;0.006;0.006;0.049|.	T|T	0.27365|0.27365	-1.0076|-1.0076	10|6	0.21014|0.08599	T|T	0.42|0.76	-13.1539|-13.1539	14.2004|14.2004	0.65699|0.65699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	772;743;771;186|.	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3|.	.;.;PHC2_HUMAN;.|.	R|A	742;771;377;236;772;236|348	ENSP00000389436:L742R;ENSP00000257118:L771R;ENSP00000362521:L377R;ENSP00000391440:L772R|.	ENSP00000257118:L771R|ENSP00000310685:S348A	L|S	-|-	2|1	0|0	PHC2|PHC2	33567168|33567168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.272000|4.272000	0.58908|0.58908	2.237000|2.237000	0.73441|0.73441	0.459000|0.459000	0.35465|0.35465	CTC|TCC	PHC2	-	NULL		0.577	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	A	NM_198040		33794581	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	C
PHF11	51131	genome.wustl.edu	37	13	50097352	50097352	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:50097352G>A	ENST00000378319.3	+	7	653	c.612G>A	c.(610-612)gtG>gtA	p.V204V	PHF11_ENST00000357596.3_Silent_p.V165V|PHF11_ENST00000460489.1_3'UTR|PHF11_ENST00000488958.1_Silent_p.V165V	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TAAGACAAGTGAAAGAAGAGC	0.348																																																	0													79.0	73.0	75.0					13																	50097352		2203	4300	6503	SO:0001819	synonymous_variant	51131			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.612G>A	13.37:g.50097352G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0A4|Q5W0A6|Q9Y5A2	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.V204	ENST00000378319.3	37	c.612	CCDS31975.1	13																																																																																			PHF11	-	NULL		0.348	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF11	HGNC	protein_coding	OTTHUMT00000044915.1	G	NM_016119		50097352	+1	no_errors	ENST00000378319	ensembl	human	known	70_37	silent	SNP	0.000	A
PHIP	55023	genome.wustl.edu	37	6	79650622	79650622	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr6:79650622C>T	ENST00000275034.4	-	40	5421	c.5254G>A	c.(5254-5256)Gag>Aag	p.E1752K	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1752	Poly-Glu.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTTCTTCCTCATCTATAGGA	0.398																																																	0													411.0	407.0	408.0					6																	79650622		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5254G>A	6.37:g.79650622C>T	ENSP00000275034:p.Glu1752Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1752K	ENST00000275034.4	37	c.5254	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818960	0.32145	.	.	ENSG00000146247	ENST00000275034	T	0.39997	1.05	6.07	5.2	0.72013	.	0.284081	0.31566	N	0.007430	T	0.13329	0.0323	N	0.19112	0.55	0.39258	D	0.964165	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.07829	-1.0752	9	.	.	.	-7.8428	13.1766	0.59630	0.0:0.9233:0.0:0.0767	.	1752;1752	A7J992;Q8WWQ0	.;PHIP_HUMAN	K	1752	ENSP00000275034:E1752K	.	E	-	1	0	PHIP	79707341	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.485000	0.60279	1.583000	0.49898	0.650000	0.86243	GAG	PHIP	-	NULL		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	C			79650622	-1	no_errors	ENST00000275034	ensembl	human	known	70_37	missense	SNP	1.000	T
PRELP	5549	genome.wustl.edu	37	1	203453017	203453017	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:203453017G>T	ENST00000343110.2	+	2	832	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	235					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTGAGAAAGATGCCGCCCA	0.552																																																	0													162.0	158.0	159.0					1																	203453017		2203	4300	6503	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.705G>T	1.37:g.203453017G>T	ENSP00000343924:p.Lys235Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.K235N	ENST00000343110.2	37	c.705	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501236	0.26861	.	.	ENSG00000188783	ENST00000343110	T	0.04406	3.63	4.77	3.86	0.44501	.	0.057230	0.64402	D	0.000002	T	0.03915	0.0110	L	0.28740	0.885	0.47949	D	0.999554	B	0.17268	0.021	B	0.13407	0.009	T	0.45760	-0.9239	10	0.20519	T	0.43	-18.9309	9.0177	0.36179	0.1812:0.0:0.8188:0.0	.	235	P51888	PRELP_HUMAN	N	235	ENSP00000343924:K235N	ENSP00000343924:K235N	K	+	3	2	PRELP	201719640	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	1.061000	0.30542	1.019000	0.39547	0.462000	0.41574	AAG	PRELP	-	smart_Leu-rich_rpt_typical-subtyp		0.552	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	G	NM_002725		203453017	+1	no_errors	ENST00000343110	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRN2	5799	genome.wustl.edu	37	7	157985024	157985024	+	Missense_Mutation	SNP	C	C	T	rs35442624|rs372551467		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:157985024C>T	ENST00000389418.4	-	5	553	c.544G>A	c.(544-546)Gct>Act	p.A182T	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A165T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A144T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A205T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A182T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	182					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCACCTCAGCGGGGGGTCTG	0.667																																																	0									THR/ALA,THR/ALA,THR/ALA	1,4401	2.1+/-5.4	0,1,2200	29.0	33.0	31.0		544,493,544	-8.3	0.0	7		31	0,8598		0,0,4299	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	58,58,58	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	182/1016,165/999,182/987	157985024	1,12999	2201	4299	6500	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.544G>A	7.37:g.157985024C>T	ENSP00000374069:p.Ala182Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A205T	ENST00000389418.4	37	c.613	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806278	0.31961	2.27E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.05;4.03;4.05;4.05;4.04	4.17	-8.34	0.00988	.	.	.	.	.	T	0.01800	0.0057	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.01;0.017;0.01;0.01	B;B;B;B;B	0.10450	0.005;0.002;0.005;0.002;0.002	T	0.45991	-0.9223	9	0.25751	T	0.34	.	0.8063	0.01084	0.2267:0.1259:0.2262:0.4213	.	205;144;182;165;182	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	144;182;165;182;205	ENSP00000387114:A144T;ENSP00000374064:A182T;ENSP00000374067:A165T;ENSP00000374069:A182T;ENSP00000385464:A205T	ENSP00000374064:A182T	A	-	1	0	PTPRN2	157677785	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.604000	0.05667	-1.640000	0.01525	-1.031000	0.02408	GCT	PTPRN2	-	NULL		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157985024	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.000	T
R3HDM2	22864	genome.wustl.edu	37	12	57677635	57677635	+	Silent	SNP	G	G	A	rs139077619		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:57677635G>A	ENST00000347140.3	-	13	1491	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	R3HDM2_ENST00000403821.2_Silent_p.G367G|R3HDM2_ENST00000402412.1_Silent_p.G381G|R3HDM2_ENST00000441731.2_Silent_p.G28G|R3HDM2_ENST00000358907.2_Silent_p.G367G|R3HDM2_ENST00000413953.2_Silent_p.G94G|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	367	Ser-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGCACTGCCGCCTTTACTGC	0.522																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	206.0	187.0	194.0		1101	-4.9	1.0	12	dbSNP_134	194	0,8600		0,0,4300	no	coding-synonymous	R3HDM2	NM_014925.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		367/977	57677635	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1101C>T	12.37:g.57677635G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1T9|Q3ZCT5	Silent	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G367	ENST00000347140.3	37	c.1101	CCDS8937.2	12																																																																																			R3HDM2	-	NULL		0.522	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	G	NM_014925		57677635	-1	no_errors	ENST00000347140	ensembl	human	known	70_37	silent	SNP	0.772	A
RBM5	10181	genome.wustl.edu	37	3	50141706	50141706	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:50141706G>C	ENST00000347869.3	+	8	768	c.593G>C	c.(592-594)aGa>aCa	p.R198T		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	198					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGGAAAAGACTAAAATGC	0.403																																																	0													82.0	81.0	82.0					3																	50141706		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.593G>C	3.37:g.50141706G>C	ENSP00000343054:p.Arg198Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R198T	ENST00000347869.3	37	c.593	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.198935	0.94997	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	D	0.83419	-1.72	6.08	6.08	0.98989	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	M	0.90542	3.125	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.93483	0.6829	10	0.87932	D	0	-16.47	20.6721	0.99693	0.0:0.0:1.0:0.0	.	198	P52756	RBM5_HUMAN	T	198;197	ENSP00000343054:R198T	ENSP00000343054:R198T	R	+	2	0	RBM5	50116710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	AGA	RBM5	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.403	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50141706	+1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF220	55182	genome.wustl.edu	37	1	45115398	45115398	+	Missense_Mutation	SNP	G	G	A	rs377270177		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:45115398G>A	ENST00000355387.2	+	13	1961	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000372247.2_Missense_Mutation_p.R504Q|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Missense_Mutation_p.R504Q|RNF220_ENST00000443020.2_Missense_Mutation_p.R291Q			Q5VTB9	RN220_HUMAN	ring finger protein 220	504					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GAACTTGAACGGCAGCTATCT	0.542																																																	0													137.0	129.0	132.0					1																	45115398		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1511G>A	1.37:g.45115398G>A	ENSP00000347548:p.Arg504Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R504Q	ENST00000355387.2	37	c.1511	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084524	0.55861	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.63	5.63	0.86233	.	0.060988	0.64402	D	0.000007	T	0.81322	0.4798	N	0.25647	0.755	0.80722	D	1	P;P;B;B;P	0.51240	0.943;0.661;0.013;0.154;0.682	B;B;B;B;B	0.37144	0.242;0.107;0.003;0.004;0.045	T	0.80039	-0.1549	10	0.16896	T	0.51	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	246;291;183;221;504	B4DJE2;B4DLZ9;D3DPZ1;C9JJY2;Q5VTB9	.;.;.;.;RN220_HUMAN	Q	504;504;504;504;291;220;246;247	ENSP00000347548:R504Q;ENSP00000354872:R504Q;ENSP00000361321:R504Q;ENSP00000414640:R291Q;ENSP00000388533:R220Q;ENSP00000335580:R246Q	ENSP00000335580:R246Q	R	+	2	0	RNF220	44887985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.566000	0.60843	2.672000	0.90937	0.485000	0.47835	CGG	RNF220	-	superfamily_Peptidase_M20_dimer		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	G	NM_018150		45115398	+1	no_errors	ENST00000355387	ensembl	human	known	70_37	missense	SNP	1.000	A
REG4	83998	genome.wustl.edu	37	1	120342438	120342438	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:120342438C>T	ENST00000354219.1	-	5	652	c.213G>A	c.(211-213)ctG>ctA	p.L71L	REG4_ENST00000530654.1_Silent_p.L71L|REG4_ENST00000256585.5_Silent_p.L71L	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CCTTTAAACTCAGGATAGATG	0.498																																																	0													216.0	198.0	204.0					1																	120342438		2203	4300	6503	SO:0001819	synonymous_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.213G>A	1.37:g.120342438C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NER6|Q8NER7	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L71	ENST00000354219.1	37	c.213	CCDS906.1	1																																																																																			REG4	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.498	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	REG4	HGNC	protein_coding	OTTHUMT00000033675.1	C	NM_032044		120342438	-1	no_errors	ENST00000256585	ensembl	human	known	70_37	silent	SNP	0.002	T
RRN3P1	730092	genome.wustl.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																																	0																																												730092					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T4|B3KWX9|O75704	RNA	SNP	-	NULL	ENST00000546471.1	37	NULL		16																																																																																			RRN3P1	-	-		0.259	RRN3P1-002	KNOWN	basic	processed_transcript	RRN3P1	HGNC	pseudogene	OTTHUMT00000409035.1	G	NR_003370		21817457	-1	no_errors	ENST00000546471	ensembl	human	known	70_37	rna	SNP	0.981	A
RUFY3	22902	genome.wustl.edu	37	4	71588332	71588332	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:71588332C>T	ENST00000226328.4	+	1	605	c.42C>T	c.(40-42)acC>acT	p.T14T	RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_5'Flank|RUFY3_ENST00000381006.3_Silent_p.T14T	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	14					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAACCCCCACCACTGACAAGA	0.542																																																	0													197.0	165.0	176.0					4																	71588332		2203	4300	6503	SO:0001819	synonymous_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.42C>T	4.37:g.71588332C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.T14	ENST00000226328.4	37	c.42	CCDS3547.1	4																																																																																			RUFY3	-	NULL		0.542	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	C	NM_014961		71588332	+1	no_errors	ENST00000226328	ensembl	human	known	70_37	silent	SNP	1.000	T
SEMA5A	9037	genome.wustl.edu	37	5	9119177	9119177	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr5:9119177G>A	ENST00000382496.5	-	15	2523	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	620	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGCAGGAGCGCTGCCGCACC	0.667																																																	0													44.0	42.0	43.0					5																	9119177		2203	4300	6503	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1858C>T	5.37:g.9119177G>A	ENSP00000371936:p.Arg620Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.R620C	ENST00000382496.5	37	c.1858	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348054	0.82132	.	.	ENSG00000112902	ENST00000382496	T	0.65549	-0.16	5.33	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88334	0.2970	10	0.87932	D	0	.	11.4714	0.50270	0.0:0.0:0.5257:0.4742	.	620	Q13591	SEM5A_HUMAN	C	620	ENSP00000371936:R620C	ENSP00000371936:R620C	R	-	1	0	SEMA5A	9172177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.752000	0.55172	0.594000	0.29761	0.557000	0.71058	CGC	SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.667	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9119177	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	missense	SNP	1.000	A
SETD2	29072	genome.wustl.edu	37	3	47098367	47098367	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:47098367G>A	ENST00000409792.3	-	15	6949	c.6907C>T	c.(6907-6909)Cca>Tca	p.P2303S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2303	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAGACTGTTGGACATGTCTGT	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													118.0	113.0	114.0					3																	47098367		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6907C>T	3.37:g.47098367G>A	ENSP00000386759:p.Pro2303Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.P2303S	ENST00000409792.3	37	c.6907	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452960	0.26161	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.38887	1.11	5.2	3.39	0.38822	.	0.360058	0.23779	N	0.044651	T	0.21881	0.0527	N	0.08118	0	0.23893	N	0.996547	B;B	0.13594	0.008;0.002	B;B	0.08055	0.003;0.002	T	0.14755	-1.0461	10	0.25106	T	0.35	.	11.29	0.49245	0.1495:0.0:0.8505:0.0	.	2303;2303	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	2303	ENSP00000386759:P2303S	ENSP00000386759:P2303S	P	-	1	0	SETD2	47073371	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	5.806000	0.69150	0.863000	0.35553	-0.150000	0.13652	CCA	SETD2	-	NULL		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47098367	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3GL1	6455	genome.wustl.edu	37	19	4362616	4362616	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:4362616C>G	ENST00000269886.3	-	8	1024	c.846G>C	c.(844-846)aaG>aaC	p.K282N	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.K234N|SH3GL1_ENST00000598564.1_Missense_Mutation_p.K218N	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	282					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TACCTGCGATCTTGGGGGCTG	0.652			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													36.0	38.0	37.0					19																	4362616		2203	4300	6503	SO:0001583	missense	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.846G>C	19.37:g.4362616C>G	ENSP00000269886:p.Lys282Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.K282N	ENST00000269886.3	37	c.846	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	8.277	0.814689	0.16607	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.34667	1.77;1.35	4.81	3.76	0.43208	.	0.000000	0.56097	D	0.000029	T	0.35307	0.0927	M	0.74647	2.275	0.25751	N	0.985055	B;B;B	0.32781	0.384;0.073;0.073	B;B;B	0.35182	0.197;0.066;0.066	T	0.20207	-1.0282	10	0.22706	T	0.39	0.2888	6.8684	0.24106	0.0:0.7232:0.1798:0.0971	.	234;282;282	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	N	282;234	ENSP00000269886:K282N;ENSP00000404568:K234N	ENSP00000269886:K282N	K	-	3	2	SH3GL1	4313616	0.099000	0.21834	0.807000	0.32361	0.308000	0.27856	0.084000	0.14891	0.985000	0.38656	0.561000	0.74099	AAG	SH3GL1	-	NULL		0.652	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	C	NM_003025		4362616	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	missense	SNP	0.447	G
SLC12A5	57468	genome.wustl.edu	37	20	44665958	44665958	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr20:44665958C>T	ENST00000454036.2	+	6	664	c.615C>T	c.(613-615)ctC>ctT	p.L205L	SLC12A5_ENST00000243964.3_Silent_p.L182L|SLC12A5_ENST00000372315.1_Silent_p.L182L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	205					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGTGGGCCTCTGCTTCTACC	0.587																																																	0													87.0	75.0	79.0					20																	44665958		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.615C>T	20.37:g.44665958C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L205	ENST00000454036.2	37	c.615	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44665958	+1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC25A44	9673	genome.wustl.edu	37	1	156177684	156177684	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:156177684C>T	ENST00000359511.4	+	3	805	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SLC25A44_ENST00000423538.2_Silent_p.L188L|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	211					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAGAGCAGCTCTCCTACCTGT	0.562																																																	0													144.0	121.0	129.0					1																	156177684		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.633C>T	1.37:g.156177684C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75034	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L211	ENST00000359511.4	37	c.633	CCDS1133.1	1																																																																																			SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.562	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156177684	+1	no_errors	ENST00000359511	ensembl	human	known	70_37	silent	SNP	0.997	T
SLC27A2	11001	genome.wustl.edu	37	15	50526076	50526076	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:50526076C>T	ENST00000267842.5	+	9	1799	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R470C|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R288C	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	523					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TCATGAGGGTCGCATTGGCAT	0.368																																																	0													71.0	67.0	68.0					15																	50526076		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1567C>T	15.37:g.50526076C>T	ENSP00000267842:p.Arg523Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R523C	ENST00000267842.5	37	c.1567	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656894	0.47467	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50548	0.74;0.74;0.74	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.87913	0.2698	10	0.87932	D	0	.	17.0275	0.86452	0.0:1.0:0.0:0.0	.	470;523	Q6PF09;O14975	.;S27A2_HUMAN	C	470;523;288	ENSP00000370289:R470C;ENSP00000267842:R523C;ENSP00000444549:R288C	ENSP00000267842:R523C	R	+	1	0	SLC27A2	48313368	0.954000	0.32549	0.997000	0.53966	0.022000	0.10575	1.458000	0.35223	2.631000	0.89168	0.462000	0.41574	CGC	SLC27A2	-	NULL		0.368	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	C	NM_003645		50526076	+1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC45A1	50651	genome.wustl.edu	37	1	8399734	8399734	+	Silent	SNP	C	C	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:8399734C>A	ENST00000471889.1	+	8	2341	c.1956C>A	c.(1954-1956)ctC>ctA	p.L652L	SLC45A1_ENST00000377479.2_Silent_p.L686L|SLC45A1_ENST00000289877.8_Silent_p.L652L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	652					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGCTGCTCTGCGATTACT	0.537																																																	0													171.0	161.0	165.0					1																	8399734		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1956C>A	1.37:g.8399734C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L686	ENST00000471889.1	37	c.2058	CCDS30577.1	1																																																																																			SLC45A1	-	superfamily_MFS_dom_general_subst_transpt		0.537	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8399734	+1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	1.000	A
SVIL	6840	genome.wustl.edu	37	10	29762860	29762860	+	Silent	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr10:29762860G>C	ENST00000355867.4	-	30	6188	c.5436C>G	c.(5434-5436)gtC>gtG	p.V1812V	SVIL_ENST00000375398.2_Silent_p.V1812V|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.V726V|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Silent_p.V1386V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1812					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGAAGAAGTAGACGCACTTCT	0.617																																																	0													69.0	52.0	58.0					10																	29762860		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5436C>G	10.37:g.29762860G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.V1812	ENST00000355867.4	37	c.5436	CCDS7164.1	10																																																																																			SVIL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.617	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	G			29762860	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	1.000	C
TACC3	10460	genome.wustl.edu	37	4	1730122	1730122	+	Silent	SNP	G	G	C	rs368079610		TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:1730122G>C	ENST00000313288.4	+	4	1099	c.993G>C	c.(991-993)tcG>tcC	p.S331S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	331					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S331S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCAGCTCCTCGAGGAGCGGAC	0.597																																					Ovarian(120;482 2294 11894 35824)												1	Substitution - coding silent(1)	lung(1)											32.0	37.0	35.0					4																	1730122		2203	4298	6501	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.993G>C	4.37:g.1730122G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	pfam_TACC	p.S331	ENST00000313288.4	37	c.993	CCDS3352.1	4																																																																																			TACC3	-	NULL		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	G			1730122	+1	no_errors	ENST00000313288	ensembl	human	known	70_37	silent	SNP	0.000	C
TBL1XR1	79718	genome.wustl.edu	37	3	176769478	176769478	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr3:176769478G>C	ENST00000430069.1	-	5	500	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L81V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	81	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATCAGGGACAGAGACTCTATT	0.403																																																	0													51.0	45.0	47.0					3																	176769478		1877	4109	5986	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.241C>G	3.37:g.176769478G>C	ENSP00000405574:p.Leu81Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L81V	ENST00000430069.1	37	c.241	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577407	0.65878	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000352800;ENST00000437738;ENST00000450267;ENST00000431674;ENST00000422066;ENST00000443315	T;T	0.56275	0.47;0.47	5.52	1.2	0.21068	.	0.000000	0.64402	D	0.000001	T	0.65821	0.2728	M	0.76002	2.32	0.53688	D	0.999971	D	0.61080	0.989	D	0.63192	0.912	T	0.66658	-0.5868	10	0.56958	D	0.05	-1.7322	10.9376	0.47253	0.3048:0.0:0.6952:0.0	.	81	Q9BZK7	TBL1R_HUMAN	V	81	ENSP00000405574:L81V;ENSP00000413251:L81V	ENSP00000263964:L81V	L	-	1	2	TBL1XR1	178252172	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.126000	0.42026	0.312000	0.23038	0.557000	0.71058	CTG	TBL1XR1	-	NULL		0.403	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	G	NM_024665		176769478	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	0.997	C
THSD1	55901	genome.wustl.edu	37	13	52952233	52952233	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr13:52952233C>T	ENST00000258613.4	-	5	2050	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L	THSD1_ENST00000544466.1_Silent_p.L245L|THSD1_ENST00000349258.4_Silent_p.L571L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	624					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTGCGGATCAGAGTCTGGC	0.622																																																	0													49.0	48.0	48.0					13																	52952233		2203	4300	6503	SO:0001819	synonymous_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1872G>A	13.37:g.52952233C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L624	ENST00000258613.4	37	c.1872	CCDS9432.1	13																																																																																			THSD1	-	NULL		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	C			52952233	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	silent	SNP	0.000	T
TMC6	11322	genome.wustl.edu	37	17	76120084	76120084	+	Silent	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:76120084G>A	ENST00000590602.1	-	9	1227	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.I356I|TMC6_ENST00000589553.1_Silent_p.I129I|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000306591.7_Silent_p.I356I|TMC6_ENST00000392467.3_Silent_p.I356I			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	356					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACACCAGGGTGATGCAGGTGA	0.562																																																	0													84.0	75.0	78.0					17																	76120084		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1068C>T	17.37:g.76120084G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.I356	ENST00000590602.1	37	c.1068	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.562	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76120084	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	A
TMC6	11322	genome.wustl.edu	37	17	76120120	76120120	+	Silent	SNP	G	G	C			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr17:76120120G>C	ENST00000590602.1	-	9	1191	c.1032C>G	c.(1030-1032)ctC>ctG	p.L344L	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.L344L|TMC6_ENST00000589553.1_Silent_p.L117L|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000306591.7_Silent_p.L344L|TMC6_ENST00000392467.3_Silent_p.L344L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	344					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCACAGTGGAGAGGTAGGCCA	0.617																																																	0													92.0	82.0	86.0					17																	76120120		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1032C>G	17.37:g.76120120G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.L344	ENST00000590602.1	37	c.1032	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.617	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76120120	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	C
TMEM60	85025	genome.wustl.edu	37	7	77423294	77423294	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr7:77423294C>G	ENST00000257663.3	-	2	773	c.397G>C	c.(397-399)Gac>Cac	p.D133H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	133						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGTCAGTCTCTCACAAAA	0.388																																																	0													53.0	48.0	50.0					7																	77423294		2203	4300	6503	SO:0001583	missense	85025			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.397G>C	7.37:g.77423294C>G	ENSP00000257663:p.Asp133His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1C3|Q86UM0	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.D133H	ENST00000257663.3	37	c.397	CCDS5593.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290134	0.80914	.	.	ENSG00000135211	ENST00000257663	T	0.25749	1.78	6.06	6.06	0.98353	.	0.108534	0.64402	D	0.000010	T	0.23532	0.0569	N	0.22421	0.69	0.45261	D	0.998262	D	0.59767	0.986	B	0.42522	0.39	T	0.01165	-1.1431	10	0.54805	T	0.06	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	133	Q9H2L4	TMM60_HUMAN	H	133	ENSP00000257663:D133H	ENSP00000257663:D133H	D	-	1	0	TMEM60	77261230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.010000	0.76353	2.880000	0.98712	0.650000	0.86243	GAC	TMEM60	-	NULL		0.388	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM60	HGNC	protein_coding	OTTHUMT00000253185.2	C	NM_032936		77423294	-1	no_errors	ENST00000257663	ensembl	human	known	70_37	missense	SNP	1.000	G
TPRN	286262	genome.wustl.edu	37	9	140093513	140093513	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr9:140093513C>G	ENST00000409012.4	-	1	1737	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	TPRN_ENST00000321773.2_Missense_Mutation_p.E490Q|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	551					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ACCTCGATCTCATGCACGGTG	0.647																																																	0													84.0	76.0	79.0					9																	140093513		2203	4300	6503	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1651G>C	9.37:g.140093513C>G	ENSP00000387100:p.Glu551Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.E551Q	ENST00000409012.4	37	c.1651	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091679	0.55968	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.93	3.93	0.45458	.	0.069959	0.56097	D	0.000033	T	0.75708	0.3886	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78969	-0.1994	9	0.72032	D	0.01	-21.1453	13.4734	0.61295	0.0:1.0:0.0:0.0	.	551	Q4KMQ1	TPRN_HUMAN	Q	349;551;490	.	ENSP00000313704:E490Q	E	-	1	0	TPRN	139213334	1.000000	0.71417	0.987000	0.45799	0.109000	0.19521	7.244000	0.78228	2.013000	0.59113	0.561000	0.74099	GAG	TPRN	-	NULL		0.647	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	C	NM_173691		140093513	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM46	80128	genome.wustl.edu	37	1	155154367	155154367	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr1:155154367G>A	ENST00000334634.4	+	9	1628	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R543Q|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.R520Q|TRIM46_ENST00000545012.1_Missense_Mutation_p.R417Q	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	543	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCGCAAGCCGAGAGCGGCTG	0.632																																																	0													45.0	47.0	46.0					1																	155154367		2172	4246	6418	SO:0001583	missense	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1628G>A	1.37:g.155154367G>A	ENSP00000334657:p.Arg543Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R543Q	ENST00000334634.4	37	c.1628	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179424	0.38511	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.64803	-0.12;0.56;0.33;0.38	4.06	4.06	0.47325	B30.2/SPRY domain (1);	0.166078	0.40640	N	0.001042	T	0.18087	0.0434	N	0.08118	0	0.28223	N	0.926443	P;P	0.40602	0.723;0.723	B;B	0.37833	0.259;0.259	T	0.04650	-1.0936	10	0.15952	T	0.53	.	7.8476	0.29435	0.1125:0.0:0.8875:0.0	.	543;543	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	Q	501;417;543;520;543	ENSP00000440254:R417Q;ENSP00000357367:R543Q;ENSP00000357366:R520Q;ENSP00000334657:R543Q	ENSP00000334657:R543Q	R	+	2	0	TRIM46	153420991	0.978000	0.34361	0.994000	0.49952	0.908000	0.53690	2.782000	0.47758	2.285000	0.76669	0.561000	0.74099	CGA	TRIM46	-	pfscan_B30.2/SPRY		0.632	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	G	NM_025058		155154367	+1	no_errors	ENST00000334634	ensembl	human	known	70_37	missense	SNP	0.994	A
USP53	54532	genome.wustl.edu	37	4	120192932	120192932	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr4:120192932G>A	ENST00000274030.6	+	16	3096	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	USP53_ENST00000450251.1_Missense_Mutation_p.M639I	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAGGTTTAATGACCATATATG	0.363																																																	0													105.0	95.0	98.0					4																	120192932		1837	4089	5926	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1917G>A	4.37:g.120192932G>A	ENSP00000274030:p.Met639Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.M639I	ENST00000274030.6	37	c.1917	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866762	0.72065	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.49720	0.77;0.77	5.58	5.58	0.84498	.	0.096253	0.64402	D	0.000003	T	0.50888	0.1642	M	0.74881	2.28	0.46823	D	0.999213	P	0.36599	0.56	B	0.33121	0.158	T	0.58109	-0.7694	10	0.66056	D	0.02	-13.2326	17.7465	0.88422	0.0:0.0:1.0:0.0	.	639	Q70EK8	UBP53_HUMAN	I	639	ENSP00000274030:M639I;ENSP00000409906:M639I	ENSP00000274030:M639I	M	+	3	0	USP53	120412380	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.184000	0.94893	2.619000	0.88677	0.563000	0.77884	ATG	USP53	-	NULL		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	G	XM_052597		120192932	+1	no_errors	ENST00000274030	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK1	65125	genome.wustl.edu	37	12	977921	977921	+	Intron	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr12:977921G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G309E|WNK1_ENST00000530271.2_Missense_Mutation_p.G1095E|WNK1_ENST00000537687.1_Missense_Mutation_p.G1010E|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAATCAGTTGGATTACATGGC	0.473																																					Colon(19;451 567 6672 12618 28860)												0													71.0	71.0	71.0					12																	977921		1950	4138	6088	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2510G>A	12.37:g.977921G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G1095E	ENST00000315939.6	37	c.3284	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225073	0.58668	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.17528	2.27;2.27	5.97	5.06	0.68205	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	T	0.03684	-1.1013	8	0.46703	T	0.11	.	11.2141	0.48817	0.0:0.2584:0.6079:0.1337	.	1095	F5H2M7	.	E	1010;1095	ENSP00000444465:G1010E;ENSP00000433548:G1095E	ENSP00000433548:G1095E	G	+	2	0	WNK1	848182	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	4.898000	0.63238	1.485000	0.48380	0.557000	0.71058	GGA	WNK1	-	NULL		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979		977921	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	0.840	A
WWP2	11060	genome.wustl.edu	37	16	69874086	69874086	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr16:69874086C>T	ENST00000359154.2	+	5	499	c.398C>T	c.(397-399)tCa>tTa	p.S133L	WWP2_ENST00000542271.1_Missense_Mutation_p.S17L|WWP2_ENST00000569174.1_Missense_Mutation_p.S133L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.S133L|WWP2_ENST00000356003.2_Missense_Mutation_p.S133L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	133					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCGTTGTCTCAGGCGGAGAG	0.547																																																	0													122.0	101.0	108.0					16																	69874086		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.398C>T	16.37:g.69874086C>T	ENSP00000352069:p.Ser133Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.S133L	ENST00000359154.2	37	c.398	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564186	0.65651	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.47	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.143373	0.47852	D	0.000205	T	0.53481	0.1799	L	0.40543	1.245	0.49915	D	0.999837	B	0.22003	0.063	B	0.19666	0.026	T	0.48210	-0.9055	9	.	.	.	.	15.8883	0.79269	0.0:1.0:0.0:0.0	.	133	O00308	WWP2_HUMAN	L	133;133;133;20;17	ENSP00000352069:S133L;ENSP00000396871:S133L;ENSP00000348283:S133L;ENSP00000445616:S17L	.	S	+	2	0	WWP2	68431587	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.052000	0.64263	2.429000	0.82318	0.655000	0.94253	TCA	WWP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.547	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69874086	+1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	0.997	T
XKR3	150165	genome.wustl.edu	37	22	17288683	17288683	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr22:17288683C>G	ENST00000331428.5	-	2	383	c.281G>C	c.(280-282)aGa>aCa	p.R94T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R94I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCCTTATTTCTCCTCAAGTC	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											91.0	87.0	88.0					22																	17288683		1842	4087	5929	SO:0001583	missense	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.281G>C	22.37:g.17288683C>G	ENSP00000331704:p.Arg94Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R94T	ENST00000331428.5	37	c.281	CCDS42975.1	22	.	.	.	.	.	.	.	.	.	.	.	12.13	1.845653	0.32606	.	.	ENSG00000172967	ENST00000331428	T	0.62788	-0.0	0.473	0.473	0.16763	.	0.153277	0.37809	U	0.001938	T	0.44456	0.1294	L	0.41492	1.28	0.09310	N	1	P	0.52061	0.95	B	0.39119	0.291	T	0.42224	-0.9464	10	0.49607	T	0.09	.	6.8307	0.23909	0.0:0.9998:0.0:2.0E-4	.	94	Q5GH77	XKR3_HUMAN	T	94	ENSP00000331704:R94T	ENSP00000331704:R94T	R	-	2	0	XKR3	15668683	0.697000	0.27767	0.023000	0.16930	0.102000	0.19082	1.225000	0.32551	0.524000	0.28502	0.134000	0.15878	AGA	XKR3	-	pfam_Transport_prot_XK		0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	C	NM_175878		17288683	-1	no_errors	ENST00000331428	ensembl	human	known	70_37	missense	SNP	0.031	G
ZNF34	80778	genome.wustl.edu	37	8	145999029	145999029	+	Silent	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr8:145999029C>T	ENST00000343459.4	-	6	1370	c.1305G>A	c.(1303-1305)gtG>gtA	p.V435V	ZNF34_ENST00000429371.2_Silent_p.V414V			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TCTGATGTTCCACGAGTTTGG	0.418																																																	0													69.0	71.0	71.0					8																	145999029		2202	4300	6502	SO:0001819	synonymous_variant	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1305G>A	8.37:g.145999029C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWN1|Q9BSZ0	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.V435	ENST00000343459.4	37	c.1305	CCDS47945.1	8																																																																																			ZNF34	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	C	NM_030580		145999029	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF568	374900	genome.wustl.edu	37	19	37441146	37441146	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr19:37441146G>A	ENST00000333987.7	+	7	1597	c.1091G>A	c.(1090-1092)tGt>tAt	p.C364Y	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.C300Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	364					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGCATGTAATGAATGT	0.383																																																	0													79.0	86.0	83.0					19																	37441146		2192	4295	6487	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1091G>A	19.37:g.37441146G>A	ENSP00000334685:p.Cys364Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DS92|E7ER33|Q6N060|Q8NA64	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.C364Y	ENST00000333987.7	37	c.1091	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894459	0.72639	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85088	-1.94;-1.94	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001201	D	0.94528	0.8238	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95943	0.8948	10	0.87932	D	0	.	14.4604	0.67445	0.0:0.0:1.0:0.0	.	364	Q3ZCX4	ZN568_HUMAN	Y	364;300	ENSP00000334685:C364Y;ENSP00000394514:C300Y	ENSP00000334685:C364Y	C	+	2	0	ZNF568	42132986	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.857000	0.69525	2.338000	0.79540	0.655000	0.94253	TGT	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	G	NM_198539		37441146	+1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF592	9640	genome.wustl.edu	37	15	85326241	85326241	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M7-01A-11D-A13W-08	TCGA-C5-A1M7-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4e82491-b934-4b89-a62b-7bb1a0d18c43	e6d2e514-e792-4e8a-a34c-1cc82733576b	g.chr15:85326241C>T	ENST00000560079.2	+	4	623	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ZNF592_ENST00000299927.3_Missense_Mutation_p.S112F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	112					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAATTTGATTCTACTTTTATG	0.498																																																	0													57.0	61.0	59.0					15																	85326241		2203	4299	6502	SO:0001583	missense	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.335C>T	15.37:g.85326241C>T	ENSP00000452877:p.Ser112Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S112F	ENST00000560079.2	37	c.335	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488614	0.44249	.	.	ENSG00000166716	ENST00000299927	T	0.00672	5.89	6.06	6.06	0.98353	.	0.355111	0.36134	N	0.002768	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	0.999995	D	0.53151	0.958	P	0.54312	0.748	T	0.55250	-0.8170	10	0.87932	D	0	-20.0549	18.1147	0.89549	0.0:1.0:0.0:0.0	.	112	Q92610	ZN592_HUMAN	F	112	ENSP00000299927:S112F	ENSP00000299927:S112F	S	+	2	0	ZNF592	83127245	0.355000	0.24921	0.237000	0.24090	0.923000	0.55619	3.474000	0.53129	2.882000	0.98803	0.655000	0.94253	TCT	ZNF592	-	NULL		0.498	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	C	NM_014630		85326241	+1	no_errors	ENST00000299927	ensembl	human	known	70_37	missense	SNP	0.110	T
