#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ALOX5	240	genome.wustl.edu	37	10	45939495	45939495	+	Intron	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:45939495G>A	ENST00000374391.2	+	13	1727				ALOX5_ENST00000542434.1_Intron|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGGGGAGGACGGGGCCCAGGG	0.711																																																	0																																										SO:0001627	intron_variant	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1675-69G>A	10.37:g.45939495G>A			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	RNA	SNP	-	NULL	ENST00000374391.2	37	NULL	CCDS7212.1	10																																																																																			ALOX5	-	-		0.711	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45939495	+1	no_errors	ENST00000498461	ensembl	human	known	70_37	rna	SNP	0.000	A
AP3D1	8943	genome.wustl.edu	37	19	2130441	2130441	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:2130441G>T	ENST00000345016.5	-	6	789	c.558C>A	c.(556-558)ccC>ccA	p.P186P	AP3D1_ENST00000355272.6_Silent_p.P186P|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	186					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCAGCCGGGGAAAGGCAG	0.597																																																	0													91.0	102.0	99.0					19																	2130441		2038	4184	6222	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.558C>A	19.37:g.2130441G>T			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.P186	ENST00000345016.5	37	c.558	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.597	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2130441	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.971	T
APOA1BP	128240	genome.wustl.edu	37	1	156563372	156563372	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:156563372G>T	ENST00000368233.3	+	5	716	c.689G>T	c.(688-690)tGg>tTg	p.W230L	APOA1BP_ENST00000368235.3_Intron|GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Intron					apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGTGGGGTGGGGGAGATTG	0.567																																																	0													52.0	47.0	49.0					1																	156563372		2203	4300	6503	SO:0001583	missense	128240			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368233.3:c.689G>T	1.37:g.156563372G>T	ENSP00000357216:p.Trp230Leu			Missense_Mutation	SNP	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	p.W230L	ENST00000368233.3	37	c.689		1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.377778	0.01204	.	.	ENSG00000163382	ENST00000368233	T	0.27557	1.66	1.4	-2.8	0.05823	.	.	.	.	.	T	0.04137	0.0115	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38757	-0.9646	7	.	.	.	.	3.644	0.08177	0.4337:0.0:0.3908:0.1755	.	230	Q5T3I4	.	L	230	ENSP00000357216:W230L	.	W	+	2	0	APOA1BP	154829996	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.245000	0.18142	-1.559000	0.01688	-1.786000	0.00637	TGG	APOA1BP	-	NULL		0.567	APOA1BP-004	KNOWN	basic	protein_coding	APOA1BP	HGNC	protein_coding	OTTHUMT00000081047.1	G	NM_144772		156563372	+1	no_errors	ENST00000368233	ensembl	human	known	70_37	missense	SNP	0.000	T
ARID5B	84159	genome.wustl.edu	37	10	63852202	63852202	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:63852202C>A	ENST00000279873.7	+	10	3390	c.2980C>A	c.(2980-2982)Cac>Aac	p.H994N	ARID5B_ENST00000309334.5_Missense_Mutation_p.H751N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	994					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCATGGTCCACCCAATCCT	0.522																																																	0													71.0	78.0	75.0					10																	63852202		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2980C>A	10.37:g.63852202C>A	ENSP00000279873:p.His994Asn		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.H994N	ENST00000279873.7	37	c.2980	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216132	0.79352	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.45276	0.91;0.9	5.72	5.72	0.89469	.	0.213712	0.48767	D	0.000170	T	0.54078	0.1836	M	0.69823	2.125	0.58432	D	0.999992	P	0.52842	0.956	P	0.47528	0.549	T	0.59392	-0.7463	10	0.72032	D	0.01	-21.2046	19.8646	0.96799	0.0:1.0:0.0:0.0	.	994	Q14865	ARI5B_HUMAN	N	994;751	ENSP00000279873:H994N;ENSP00000308862:H751N	ENSP00000279873:H994N	H	+	1	0	ARID5B	63522208	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.356000	0.59430	2.702000	0.92279	0.655000	0.94253	CAC	ARID5B	-	NULL		0.522	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	C	XM_084482		63852202	+1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP9B	374868	genome.wustl.edu	37	18	77107900	77107900	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr18:77107900G>T	ENST00000426216.2	+	24	2830	c.2813G>T	c.(2812-2814)aGg>aTg	p.R938M	ATP9B_ENST00000307671.7_Missense_Mutation_p.R938M|ATP9B_ENST00000543761.1_Missense_Mutation_p.R259M	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	938					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCATGCACAGGGGCCTTATC	0.627																																																	0													57.0	56.0	56.0					18																	77107900		2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2813G>T	18.37:g.77107900G>T	ENSP00000398076:p.Arg938Met		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R938M	ENST00000426216.2	37	c.2813	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121563	0.77436	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;T	0.70749	-0.51;-0.51;-0.51	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.987;0.977;0.99	D	0.93483	0.6829	10	0.87932	D	0	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	311;259;938;938	B3KSI8;F5H8J1;O43861;O43861-2	.;.;ATP9B_HUMAN;.	M	938;938;259	ENSP00000398076:R938M;ENSP00000304500:R938M;ENSP00000442015:R259M	ENSP00000304500:R938M	R	+	2	0	ATP9B	75208888	1.000000	0.71417	0.962000	0.40283	0.620000	0.37586	9.093000	0.94163	2.306000	0.77630	0.563000	0.77884	AGG	ATP9B	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.627	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	G	NM_198531		77107900	+1	no_errors	ENST00000426216	ensembl	human	known	70_37	missense	SNP	1.000	T
BCL11A	53335	genome.wustl.edu	37	2	60686967	60686967	+	3'UTR	SNP	T	T	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:60686967T>C	ENST00000335712.6	-	0	3307				BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCTATCTATTCTGTCTATA	0.328			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										SO:0001624	3_prime_UTR_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*572A>G	2.37:g.60686967T>C			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	SNP	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-		0.328	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	T	NM_022893		60686967	-1	no_errors	ENST00000477659	ensembl	human	known	70_37	rna	SNP	0.852	C
B3GALT1	8708	genome.wustl.edu	37	2	168725978	168725978	+	Missense_Mutation	SNP	G	G	T	rs369947361		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:168725978G>T	ENST00000392690.3	+	1	521	c.429G>T	c.(427-429)gaG>gaT	p.E143D	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.E143D			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	143					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCATCGTGGAGGACTTTATTG	0.443																																																	0													91.0	84.0	86.0					2																	168725978		2203	4300	6503	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.429G>T	2.37:g.168725978G>T	ENSP00000376456:p.Glu143Asp		D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.E143D	ENST00000392690.3	37	c.429	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278138	0.59758	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.42131	0.98;0.98	6.17	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.76328	2.33	0.54753	D	0.99998	D	0.54772	0.968	P	0.57283	0.817	T	0.52426	-0.8577	10	0.15499	T	0.54	-23.5576	9.3513	0.38140	0.3187:0.0:0.6813:0.0	.	143	Q9Y5Z6	B3GT1_HUMAN	D	143	ENSP00000303740:E143D;ENSP00000376456:E143D	ENSP00000303740:E143D	E	+	3	2	B3GALT1	168434224	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.084000	0.41625	0.952000	0.37798	0.655000	0.94253	GAG	B3GALT1	-	pfam_Glyco_trans_31		0.443	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	G	NM_020981		168725978	+1	no_errors	ENST00000305861	ensembl	human	known	70_37	missense	SNP	1.000	T
BUB3	9184	genome.wustl.edu	37	10	124914622	124914622	+	Silent	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:124914622C>A	ENST00000368865.4	+	2	398	c.189C>A	c.(187-189)gcC>gcA	p.A63A	BUB3_ENST00000368859.2_Silent_p.A63A|BUB3_ENST00000368858.5_Silent_p.A63A|BUB3_ENST00000538238.1_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TGGACTGCGCCTTCTACGTAG	0.602																																					GBM(161;1111 1985 17553 20049 26037)												0													74.0	56.0	62.0					10																	124914622		2203	4300	6503	SO:0001819	synonymous_variant	9184			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.189C>A	10.37:g.124914622C>A			A6NJ42|B2R6E7|D3DRE9|O43685	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A63	ENST00000368865.4	37	c.189	CCDS7635.1	10																																																																																			BUB3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.602	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	HGNC	protein_coding	OTTHUMT00000050835.1	C			124914622	+1	no_errors	ENST00000368865	ensembl	human	known	70_37	silent	SNP	0.408	A
BUD13	84811	genome.wustl.edu	37	11	116633813	116633813	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:116633813G>T	ENST00000260210.4	-	4	515	c.492C>A	c.(490-492)ccC>ccA	p.P164P	BUD13_ENST00000375445.3_Silent_p.P164P	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	164	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCCCTCTGAGGGGAGAAGGAT	0.592																																																	0													100.0	107.0	104.0					11																	116633813		2201	4296	6497	SO:0001819	synonymous_variant	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.492C>A	11.37:g.116633813G>T			A8K0S0|Q96LS7	Silent	SNP	pfam_Bud13	p.P164	ENST00000260210.4	37	c.492	CCDS8374.1	11																																																																																			BUD13	-	NULL		0.592	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	G	NM_032725		116633813	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	silent	SNP	0.943	T
C1QTNF2	114898	genome.wustl.edu	37	5	159776635	159776635	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:159776635C>A	ENST00000393975.3	-	3	536	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	133	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTGGCTCCCCCTTCTTGCC	0.692																																																	0													97.0	107.0	103.0					5																	159776635		2203	4300	6503	SO:0001583	missense	114898			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.533G>T	5.37:g.159776635C>A	ENSP00000377545:p.Gly178Val			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G178V	ENST00000393975.3	37	c.533	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760692	0.69763	.	.	ENSG00000145861	ENST00000393975	D	0.99637	-6.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96742	0.9547	10	0.87932	D	0	.	19.206	0.93730	0.0:1.0:0.0:0.0	.	133	Q9BXJ5	C1QT2_HUMAN	V	178	ENSP00000377545:G178V	ENSP00000377545:G178V	G	-	2	0	C1QTNF2	159709213	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.653000	0.90120	0.491000	0.48974	GGG	C1QTNF2	-	pfam_Collagen		0.692	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	C			159776635	-1	no_errors	ENST00000393975	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNG6	59285	genome.wustl.edu	37	19	54515286	54515286	+	Missense_Mutation	SNP	C	C	T	rs369729281	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:54515286C>T	ENST00000252729.2	+	4	1216	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CACNG6_ENST00000346968.2_Missense_Mutation_p.P163L|CACNG6_ENST00000352529.1_Missense_Mutation_p.P138L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGCCTCCCCCGGCCCCACGC	0.692																																																	0													28.0	32.0	31.0					19																	54515286		2203	4299	6502	SO:0001583	missense	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.626C>T	19.37:g.54515286C>T	ENSP00000252729:p.Pro209Leu			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.P209L	ENST00000252729.2	37	c.626	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440634	0.25900	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.69561	-0.41;1.51;1.51	3.76	-0.811	0.10857	.	0.934799	0.08776	N	0.895525	T	0.52948	0.1766	N	0.22421	0.69	0.09310	N	1	D;B;B	0.61080	0.989;0.035;0.021	P;B;B	0.49332	0.607;0.016;0.007	T	0.44498	-0.9324	10	0.35671	T	0.21	-15.6325	3.6182	0.08085	0.0:0.4804:0.1906:0.329	.	138;163;209	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	L	209;138;163	ENSP00000252729:P209L;ENSP00000319135:P138L;ENSP00000319097:P163L	ENSP00000252729:P209L	P	+	2	0	CACNG6	59207098	0.000000	0.05858	0.000000	0.03702	0.756000	0.42949	-0.768000	0.04715	-0.026000	0.13895	0.558000	0.71614	CCG	CACNG6	-	NULL		0.692	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	C			54515286	+1	no_errors	ENST00000252729	ensembl	human	known	70_37	missense	SNP	0.000	T
CBS	875	genome.wustl.edu	37	21	44488649	44488649	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr21:44488649C>A	ENST00000398165.3	-	4	545	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	CBS_ENST00000398168.1_Missense_Mutation_p.G96W|CBS_ENST00000398158.1_Missense_Mutation_p.G96W|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Missense_Mutation_p.G96W|CBS_ENST00000544202.1_Missense_Mutation_p.G8W|CBS_ENST00000352178.5_Missense_Mutation_p.G96W	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	96					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	AACTTCTTCCCAATCTTGTTG	0.522																																																	0													104.0	100.0	101.0					21																	44488649		2203	4300	6503	SO:0001583	missense	875			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.286G>T	21.37:g.44488649C>A	ENSP00000381231:p.Gly96Trp		B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.G96W	ENST00000398165.3	37	c.286	CCDS13693.1	21	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637157	0.29157	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202;ENST00000441030	D;D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	4.81	1.87	0.25490	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.341118	0.31199	N	0.008066	D	0.99017	0.9664	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96217	0.9157	10	0.87932	D	0	-20.1304	4.7712	0.13157	0.1596:0.6138:0.1442:0.0824	.	96	P35520	CBS_HUMAN	W	96;96;96;96;96;53;8;96	ENSP00000381225:G96W;ENSP00000381231:G96W;ENSP00000352643:G96W;ENSP00000344460:G96W;ENSP00000381234:G96W;ENSP00000439332:G8W;ENSP00000388235:G96W	ENSP00000344460:G96W	G	-	1	0	CBS	43361718	1.000000	0.71417	0.002000	0.10522	0.184000	0.23303	1.914000	0.39966	0.145000	0.18977	-0.136000	0.14681	GGG	CBS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth		0.522	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	C	NM_000071		44488649	-1	no_errors	ENST00000398168	ensembl	human	known	70_37	missense	SNP	0.173	A
CDC42BPG	55561	genome.wustl.edu	37	11	64597491	64597491	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:64597491G>T	ENST00000342711.5	-	30	3418	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCTGCACTGGGGCTCAAGGT	0.647																																																	0													28.0	30.0	29.0					11																	64597491		2201	4296	6497	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3419C>A	11.37:g.64597491G>T	ENSP00000345133:p.Pro1140His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1140H	ENST00000342711.5	37	c.3419	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907350	0.52333	.	.	ENSG00000171219	ENST00000342711	T	0.04654	3.58	4.78	3.81	0.43845	Citron-like (2);	0.163679	0.29572	N	0.011763	T	0.17066	0.0410	M	0.74467	2.265	0.28211	N	0.926915	D	0.59767	0.986	P	0.61533	0.89	T	0.00597	-1.1652	10	0.87932	D	0	.	12.8036	0.57601	0.0:0.0:0.8367:0.1633	.	1140	Q6DT37	MRCKG_HUMAN	H	1140	ENSP00000345133:P1140H	ENSP00000345133:P1140H	P	-	2	0	CDC42BPG	64354067	1.000000	0.71417	0.934000	0.37439	0.317000	0.28152	3.770000	0.55310	2.388000	0.81334	0.655000	0.94253	CCC	CDC42BPG	-	pfam_Citron,smart_Citron		0.647	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64597491	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.987	T
CDK13	8621	genome.wustl.edu	37	7	40134004	40134004	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:40134004G>A	ENST00000181839.4	+	14	4569	c.3964G>A	c.(3964-3966)Gat>Aat	p.D1322N	CDK13_ENST00000340829.5_Missense_Mutation_p.D1262N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1322					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGGTGGGATTGATTATCAAGC	0.478																																																	0													144.0	140.0	142.0					7																	40134004		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3964G>A	7.37:g.40134004G>A	ENSP00000181839:p.Asp1322Asn		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.D1322N	ENST00000181839.4	37	c.3964	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686071	0.68157	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.45276	0.9;0.9	5.2	5.2	0.72013	.	.	.	.	.	T	0.51975	0.1706	L	0.40543	1.245	0.46241	D	0.99894	D;D	0.61080	0.965;0.989	P;P	0.57846	0.655;0.828	T	0.44406	-0.9330	8	.	.	.	-6.938	18.7486	0.91804	0.0:0.0:1.0:0.0	.	1262;1322	Q14004-2;Q14004	.;CDK13_HUMAN	N	1322;1262	ENSP00000181839:D1322N;ENSP00000340557:D1262N	.	D	+	1	0	CDK13	40100529	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.047000	0.89440	2.439000	0.82584	0.591000	0.81541	GAT	CDK13	-	NULL		0.478	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	G	NM_003718		40134004	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.999	A
CEP70	80321	genome.wustl.edu	37	3	138256028	138256028	+	Missense_Mutation	SNP	C	C	A	rs143351944		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:138256028C>A	ENST00000264982.3	-	7	893	c.627G>T	c.(625-627)ttG>ttT	p.L209F	CEP70_ENST00000542237.1_Missense_Mutation_p.L189F|CEP70_ENST00000489254.1_Missense_Mutation_p.L57F|CEP70_ENST00000464035.1_Missense_Mutation_p.L209F|CEP70_ENST00000481834.1_Missense_Mutation_p.L209F|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.L209F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	209					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.L209F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						ACTGTCTATCCAAGACGGTAT	0.353																																																	1	Substitution - Missense(1)	skin(1)											152.0	133.0	140.0					3																	138256028		2203	4300	6503	SO:0001583	missense	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.627G>T	3.37:g.138256028C>A	ENSP00000264982:p.Leu209Phe		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L209F	ENST00000264982.3	37	c.627	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552575	0.65425	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T;T	0.58797	1.29;1.3;0.71;1.29;1.3;1.28;0.69;0.68;0.31	4.57	4.57	0.56435	.	0.509985	0.19497	N	0.112829	T	0.69860	0.3158	M	0.62723	1.935	0.39124	D	0.961711	D;D;D;D	0.76494	0.982;0.996;0.999;0.996	P;D;D;D	0.70016	0.802;0.931;0.967;0.931	T	0.67554	-0.5641	10	0.27082	T	0.32	-5.3217	12.7248	0.57164	0.0:1.0:0.0:0.0	.	57;189;209;209	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	F	209;189;57;209;191;209;188;189;209	ENSP00000264982:L209F;ENSP00000444128:L189F;ENSP00000417821:L57F;ENSP00000419231:L209F;ENSP00000419833:L191F;ENSP00000417465:L209F;ENSP00000418131:L188F;ENSP00000417819:L189F;ENSP00000419743:L209F	ENSP00000264982:L209F	L	-	3	2	CEP70	139738718	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.621000	0.36986	2.370000	0.80446	0.655000	0.94253	TTG	CEP70	-	NULL		0.353	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	C	NM_024491		138256028	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	missense	SNP	1.000	A
CMKLR1	1240	genome.wustl.edu	37	12	108686584	108686584	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:108686584G>T	ENST00000312143.7	-	3	519	c.156C>A	c.(154-156)ttC>ttA	p.F52L	CMKLR1_ENST00000397688.2_Missense_Mutation_p.F50L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F50L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F52L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F52L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	52					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATCCCGAGGAAGCAGACGA	0.502																																																	0													96.0	93.0	94.0					12																	108686584		1994	4174	6168	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.156C>A	12.37:g.108686584G>T	ENSP00000311733:p.Phe52Leu		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F52L	ENST00000312143.7	37	c.156	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	0.073	-1.199400	0.01581	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.0	1.6	0.23607	.	0.652897	0.14674	N	0.305198	T	0.12561	0.0305	N	0.11201	0.11	0.32517	N	0.536741	B	0.06786	0.001	B	0.01281	0.0	T	0.31752	-0.9932	10	0.05959	T	0.93	.	8.3399	0.32237	0.0964:0.397:0.5066:0.0	.	52	Q99788	CML1_HUMAN	L	52;52;50;50;52;52;52	ENSP00000311733:F52L;ENSP00000401293:F52L;ENSP00000380803:F50L;ENSP00000447579:F50L;ENSP00000449716:F52L;ENSP00000448925:F52L;ENSP00000448362:F52L	ENSP00000311733:F52L	F	-	3	2	CMKLR1	107210714	1.000000	0.71417	0.799000	0.32177	0.182000	0.23217	0.567000	0.23608	1.059000	0.40554	0.472000	0.43445	TTC	CMKLR1	-	prints_GPCR_Rhodpsn,prints_ATII_rcpt		0.502	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108686584	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	0.994	T
CPED1	79974	genome.wustl.edu	37	7	120906364	120906364	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:120906364G>T	ENST00000310396.5	+	19	2861	c.2394G>T	c.(2392-2394)caG>caT	p.Q798H		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	798						endoplasmic reticulum (GO:0005783)											AGGAATGGCAGAAAGTACATG	0.393																																																	0													212.0	191.0	198.0					7																	120906364		2203	4300	6503	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2394G>T	7.37:g.120906364G>T	ENSP00000309772:p.Gln798His		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.Q798H	ENST00000310396.5	37	c.2394	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125368	0.56721	.	.	ENSG00000106034	ENST00000310396	T	0.18960	2.18	5.94	4.14	0.48551	.	0.307523	0.34986	N	0.003529	T	0.38612	0.1047	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06285	-1.0835	10	0.49607	T	0.09	.	10.4437	0.44481	0.2592:0.0:0.7408:0.0	.	798	A4D0V7	CG058_HUMAN	H	798	ENSP00000309772:Q798H	ENSP00000309772:Q798H	Q	+	3	2	C7orf58	120693600	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.428000	0.21395	0.848000	0.35191	0.561000	0.74099	CAG	CPED1	-	NULL		0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120906364	+1	no_errors	ENST00000310396	ensembl	human	known	70_37	missense	SNP	1.000	T
CPA5	93979	genome.wustl.edu	37	7	130008431	130008431	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:130008431C>A	ENST00000485477.1	+	12	2433	c.1304C>A	c.(1303-1305)cCc>cAc	p.P435H	CPA5_ENST00000393213.3_Missense_Mutation_p.P435H|CPA5_ENST00000474905.1_Missense_Mutation_p.P435H|CPA5_ENST00000355388.3_Missense_Mutation_p.P435H|CPA5_ENST00000466363.2_Missense_Mutation_p.P435H|CPA5_ENST00000461828.1_Missense_Mutation_p.P435H|CPA5_ENST00000431780.2_3'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	435						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGAATCACCCCTACTAGCAG	0.617																																																	0													135.0	108.0	117.0					7																	130008431		2203	4300	6503	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1304C>A	7.37:g.130008431C>A	ENSP00000420237:p.Pro435His		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P435H	ENST00000485477.1	37	c.1304	CCDS5819.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.600906|2.600906	0.46423|0.46423	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213|ENST00000479492	T;T;T;T;T;T|T	0.11821|0.41065	2.74;2.74;2.74;2.74;2.74;2.74|1.01	5.85|5.85	4.97|4.97	0.65823|0.65823	.|.	0.498355|0.498355	0.20385|0.20385	N|N	0.093363|0.093363	T|T	0.50086|0.50086	0.1595|0.1595	M|M	0.72894|0.72894	2.215|2.215	0.32058|0.32058	N|N	0.596104|0.596104	D|.	0.76494|.	0.999|.	D|.	0.68039|.	0.955|.	T|T	0.61222|0.61222	-0.7106|-0.7106	9|7	.|.	.|.	.|.	.|.	7.5877|7.5877	0.28002|0.28002	0.0:0.7497:0.0:0.2503|0.0:0.7497:0.0:0.2503	.|.	435|.	Q8WXQ8|.	CBPA5_HUMAN|.	H|T	435|84	ENSP00000347549:P435H;ENSP00000418183:P435H;ENSP00000419025:P435H;ENSP00000420237:P435H;ENSP00000417314:P435H;ENSP00000376907:P435H|ENSP00000417886:P84T	.|.	P|P	+|+	2|1	0|0	CPA5|CPA5	129795667|129795667	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	2.725000|2.725000	0.47294|0.47294	1.467000|1.467000	0.48044|0.48044	0.655000|0.655000	0.94253|0.94253	CCC|CCT	CPA5	-	NULL		0.617	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	C	NM_001127441		130008431	+1	no_errors	ENST00000355388	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP2	26047	genome.wustl.edu	37	7	146829491	146829491	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:146829491G>T	ENST00000361727.3	+	8	1754	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	413	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGTCTTCAGTCACTTTGCG	0.488										HNSCC(39;0.1)																																							0													129.0	114.0	119.0					7																	146829491		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1238G>T	7.37:g.146829491G>T	ENSP00000354778:p.Ser413Ile		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S413I	ENST00000361727.3	37	c.1238	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931794	0.34096	.	.	ENSG00000174469	ENST00000361727	T	0.77620	-1.11	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.071919	0.49916	D	0.000124	T	0.75910	0.3914	M	0.75615	2.305	0.80722	D	1	B	0.21381	0.055	B	0.21708	0.036	T	0.70439	-0.4871	10	0.29301	T	0.29	.	11.8253	0.52263	0.0807:0.0:0.9193:0.0	.	413	Q9UHC6	CNTP2_HUMAN	I	413	ENSP00000354778:S413I	ENSP00000354778:S413I	S	+	2	0	CNTNAP2	146460424	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.387000	0.59626	2.686000	0.91538	0.591000	0.81541	AGT	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			146829491	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	0.996	T
DEFB124	245937	genome.wustl.edu	37	20	30060720	30060721	+	Intron	INS	-	-	CA	rs111402081|rs376204645|rs111977476|rs367856414|rs112525788|rs34150499		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr20:30060720_30060721insCA	ENST00000317676.2	-	1	58				REM1_ENST00000201979.2_5'Flank|DEFB124_ENST00000481595.1_5'UTR	NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			Gcacacatgtgcacacacacac	0.52																																																	0																																										SO:0001627	intron_variant	245937			DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"""Defensins, beta"""	18104	protein-coding gene	gene with protein product	"""defensin, beta 24"""					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.58+37->TG	20.37:g.30060729_30060730dupCA			Q30E74	RNA	INS	-	NULL	ENST00000317676.2	37	NULL	CCDS33457.1	20																																																																																			DEFB124	-	-		0.520	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB124	HGNC	protein_coding	OTTHUMT00000354416.1	-	NM_001037500		30060721	-1	no_errors	ENST00000481595	ensembl	human	known	70_37	rna	INS	0.259:0.435	CA
DIRAS3	9077	genome.wustl.edu	37	1	68512899	68512899	+	Missense_Mutation	SNP	C	C	T	rs35600387	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:68512899C>T	ENST00000370981.1	-	4	718	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.A28T|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	28					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTTGAAGGCGCGGAGGATA	0.607																																																	0													40.0	45.0	44.0					1																	68512899		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.82G>A	1.37:g.68512899C>T	ENSP00000360020:p.Ala28Thr		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A28T	ENST00000370981.1	37	c.82	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196320	0.22037	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.72725	-0.68;-0.68	3.98	-5.12	0.02893	.	.	.	.	.	T	0.12689	0.0308	N	0.12182	0.205	0.09310	N	1	B	0.29612	0.251	B	0.12837	0.008	T	0.14839	-1.0458	9	0.05959	T	0.93	.	0.3808	0.00395	0.2749:0.3044:0.1355:0.2852	.	28	O95661	DIRA3_HUMAN	T	28	ENSP00000360020:A28T;ENSP00000378627:A28T	ENSP00000360020:A28T	A	-	1	0	DIRAS3	68285487	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.388000	0.02533	-0.841000	0.04200	-0.253000	0.11424	GCC	DIRAS3	-	NULL		0.607	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512899	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.000	T
DNPEP	23549	genome.wustl.edu	37	2	220246294	220246294	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:220246294C>A	ENST00000273075.4	-	12	1330	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	DNPEP_ENST00000523282.1_Missense_Mutation_p.E378D|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.E295D	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	360					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTTCTCCTCATGCTTGT	0.552																																																	0													160.0	169.0	166.0					2																	220246294		2032	4175	6207	SO:0001583	missense	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1110G>T	2.37:g.220246294C>A	ENSP00000273075:p.Glu370Asp		Q9BW44|Q9NUV5	Missense_Mutation	SNP	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.E370D	ENST00000273075.4	37	c.1110	CCDS42823.1	2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424503	0.43020	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	4.85	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.25332	0.735	0.58432	D	0.999999	B;B;B;B	0.32382	0.105;0.214;0.316;0.368	B;B;B;B	0.32211	0.081;0.13;0.142;0.127	T	0.20075	-1.0286	9	0.56958	D	0.05	-24.5828	1.1442	0.01772	0.1486:0.4189:0.1646:0.2678	.	378;378;360;370	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	D	370;370;295;378;263	.	ENSP00000273075:E370D	E	-	3	2	DNPEP	219954538	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	0.431000	0.21444	0.737000	0.32582	0.561000	0.74099	GAG	DNPEP	-	pfam_Peptidase_M18,pfam_Peptidase_M42		0.552	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1	C	NM_012100		220246294	-1	no_errors	ENST00000273075	ensembl	human	known	70_37	missense	SNP	1.000	A
DPCR1	135656	genome.wustl.edu	37	6	30916512	30916512	+	Missense_Mutation	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:30916512C>T	ENST00000462446.1	+	2	299	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	91						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAACACCACACGCCATTCTAA	0.443																																																	0													84.0	69.0	73.0					6																	30916512		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.271C>T	6.37:g.30916512C>T	ENSP00000417182:p.Arg91Cys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.R91C	ENST00000462446.1	37	c.271	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201402	0.38905	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.44083	0.93	3.36	1.46	0.22682	.	.	.	.	.	T	0.25232	0.0613	N	0.24115	0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.64877	0.93	T	0.04635	-1.0937	9	0.72032	D	0.01	1.5527	3.6416	0.08169	0.2459:0.6205:0.0:0.1336	.	91	E9PEI6	.	C	91	ENSP00000417182:R91C	ENSP00000411741:R91C	R	+	1	0	DPCR1	31024491	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.457000	0.21875	0.376000	0.24707	0.491000	0.48974	CGC	DPCR1	-	NULL		0.443	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30916512	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.005	T
EDIL3	10085	genome.wustl.edu	37	5	83239278	83239278	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:83239278G>T	ENST00000296591.5	-	11	1821	c.1403C>A	c.(1402-1404)aCa>aAa	p.T468K	EDIL3_ENST00000380138.3_Missense_Mutation_p.T458K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	468	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGACCGCAATGTGATCCTCCC	0.478																																																	0													143.0	131.0	136.0					5																	83239278		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1403C>A	5.37:g.83239278G>T	ENSP00000296591:p.Thr468Lys		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T468K	ENST00000296591.5	37	c.1403	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398275	0.83120	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98345	-4.88;-4.88	5.52	5.52	0.82312	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.977;0.997	D	0.99474	1.0946	10	0.87932	D	0	-16.1119	19.448	0.94855	0.0:0.0:1.0:0.0	.	458;468	O43854-2;O43854	.;EDIL3_HUMAN	K	468;458	ENSP00000296591:T468K;ENSP00000369483:T458K	ENSP00000296591:T468K	T	-	2	0	EDIL3	83275034	1.000000	0.71417	0.967000	0.41034	0.821000	0.46438	9.357000	0.97099	2.617000	0.88574	0.655000	0.94253	ACA	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.478	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	G	NM_005711		83239278	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	1.000	T
EEF2K	29904	genome.wustl.edu	37	16	22268678	22268678	+	Silent	SNP	G	G	T	rs140938002	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:22268678G>T	ENST00000263026.5	+	8	1347	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	291	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.		T -> M (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACACGGAGACGGGCACTGACT	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)												0													134.0	109.0	117.0					16																	22268678		2197	4300	6497	SO:0001819	synonymous_variant	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.873G>T	16.37:g.22268678G>T			Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.T291	ENST00000263026.5	37	c.873	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	G	NM_013302		22268678	+1	no_errors	ENST00000263026	ensembl	human	known	70_37	silent	SNP	0.002	T
RP11-51O6.1	0	genome.wustl.edu	37	16	61089303	61089303	+	RNA	DEL	T	T	-	rs567241949|rs201948984|rs56076856|rs572952892	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:61089303delT	ENST00000591758.1	-	0	565																											Cttcttcttcttttttttttt	0.244													|||unknown(HR)	3221	0.643171	0.7216	0.6729	5008	,	,		12287	0.7063		0.5507	False		,,,				2504	0.546																0																																												0																															16.37:g.61089303delT				RNA	DEL	-	NULL	ENST00000591758.1	37	NULL		16																																																																																			RP11-51O6.1	-	-		0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	ENSG00000224631	Clone_based_vega_gene	pseudogene	OTTHUMT00000460612.1	T			61089303	-1	no_errors	ENST00000591758	ensembl	human	known	70_37	rna	DEL	0.051	-
LOC101927209	101927209	genome.wustl.edu	37	1	142621471	142621471	+	lincRNA	SNP	G	G	C	rs4847830		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:142621471G>C	ENST00000610091.1	-	0	6364				RP11-417J8.3_ENST00000426408.1_lincRNA																							CAGTGGAAACGGTCATCTTCC	0.468																																																	0																																												0																															1.37:g.142621471G>C				RNA	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			AL583842.3	-	-		0.468	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000230880	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	G			142621471	+1	no_errors	ENST00000412092	ensembl	human	putative	70_37	rna	SNP	0.021	C
DNM1P47	100216544	genome.wustl.edu	37	15	102296221	102296221	+	RNA	SNP	G	G	A	rs201161631		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr15:102296221G>A	ENST00000561463.1	+	0	4267									DNM1 pseudogene 47																		CAGAGCTGCTGTCCAACCTGC	0.602																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296221G>A				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.602	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102296221	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	A
ENTPD3	956	genome.wustl.edu	37	3	40457472	40457472	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:40457472C>A	ENST00000301825.3	+	7	857	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.L247M|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.L247M	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	247					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GCAGGTGTCCCTGTATGGCTA	0.532																																																	0													109.0	89.0	96.0					3																	40457472		2203	4300	6503	SO:0001583	missense	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.739C>A	3.37:g.40457472C>A	ENSP00000301825:p.Leu247Met		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.L247M	ENST00000301825.3	37	c.739	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737914	0.69304	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.14022	2.54;2.54;2.54	5.38	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.87827	2.91	0.48511	D	0.999667	D	0.89917	1.0	D	0.97110	1.0	T	0.13656	-1.0501	10	0.54805	T	0.06	-13.514	8.3142	0.32091	0.0:0.7489:0.0:0.2511	.	247	O75355	ENTP3_HUMAN	M	247	ENSP00000301825:L247M;ENSP00000401565:L247M;ENSP00000404671:L247M	ENSP00000301825:L247M	L	+	1	2	ENTPD3	40432476	0.963000	0.33076	0.989000	0.46669	0.948000	0.59901	2.158000	0.42329	0.715000	0.32103	0.655000	0.94253	CTG	ENTPD3	-	pfam_GDA1_CD39_NTPase		0.532	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	C	NM_001248		40457472	+1	no_errors	ENST00000301825	ensembl	human	known	70_37	missense	SNP	0.999	A
ZYX	7791	genome.wustl.edu	37	7	143087514	143087514	+	Intron	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:143087514G>T	ENST00000322764.5	+	10	1959				ZYX_ENST00000449423.2_Intron|EPHA1_ENST00000458129.1_5'UTR|ZYX_ENST00000392910.2_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGTAGGATAGGGATGGGGAG	0.567																																																	0																																										SO:0001627	intron_variant	2041			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1615-157G>T	7.37:g.143087514G>T			A4D2G6|Q6I9S4	RNA	SNP	-	NULL	ENST00000322764.5	37	NULL	CCDS5883.1	7																																																																																			EPHA1	-	-		0.567	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000156296.2	G	NM_003461		143087514	-1	no_errors	ENST00000458129	ensembl	human	putative	70_37	rna	SNP	0.001	T
EPN2	22905	genome.wustl.edu	37	17	19186471	19186471	+	Silent	SNP	C	C	T	rs150823408	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:19186471C>T	ENST00000314728.5	+	3	523	c.39C>T	c.(37-39)atC>atT	p.I13I	EPN2_ENST00000395626.1_Silent_p.I13I|EPN2_ENST00000395620.2_Silent_p.I13I|EPN2_ENST00000347697.2_Silent_p.I13I|EPN2_ENST00000571254.1_Silent_p.I13I|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	13	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGAAAAACATCGTGAACAATT	0.458																																																	0								C	,,	0,4406		0,0,2203	65.0	70.0	68.0		,39,39	-1.7	1.0	17	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous,coding-synonymous	EPN2	NM_001102664.1,NM_014964.4,NM_148921.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	,13/642,13/585	19186471	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.39C>T	17.37:g.19186471C>T			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.I13	ENST00000314728.5	37	c.39	CCDS11203.1	17																																																																																			EPN2	-	superfamily_ENTH_VHS,pfscan_Epsin-like_N		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	HGNC	protein_coding	OTTHUMT00000132283.3	C	NM_014964		19186471	+1	no_errors	ENST00000314728	ensembl	human	known	70_37	silent	SNP	0.995	T
ETHE1	23474	genome.wustl.edu	37	19	44012071	44012071	+	Intron	SNP	G	G	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:44012071G>C	ENST00000292147.2	-	6	779				ETHE1_ENST00000600651.1_Missense_Mutation_p.S246C|PHLDB3_ENST00000292140.5_5'Flank|PHLDB3_ENST00000599242.1_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1						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)				ctcagacccagaagtccaggt	0.617																																																	0													43.0	34.0	37.0					19																	44012071		2203	4300	6503	SO:0001627	intron_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.712+24C>G	19.37:g.44012071G>C			Q96HR0|Q9H001	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S246C	ENST00000292147.2	37	c.737	CCDS12622.1	19																																																																																			ETHE1	-	NULL		0.617	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	G	NM_014297		44012071	-1	no_errors	ENST00000600651	ensembl	human	putative	70_37	missense	SNP	0.000	C
AMER2	219287	genome.wustl.edu	37	13	25744029	25744029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr13:25744029C>A	ENST00000515384.1	-	1	2396	c.1729G>T	c.(1729-1731)Gag>Tag	p.E577*	AMER2_ENST00000381853.3_Nonsense_Mutation_p.E458*|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Nonsense_Mutation_p.E458*			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	577					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GAGGACGTCTCCTCGTTGTCC	0.592																																																	0													126.0	111.0	116.0					13																	25744029		2203	4300	6503	SO:0001587	stop_gained	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1729G>T	13.37:g.25744029C>A	ENSP00000426528:p.Glu577*		Q5RL80|Q5VX56|Q8N593|Q96NN5	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E577*	ENST00000515384.1	37	c.1729	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.926604	0.99489	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	.	.	.	5.57	4.67	0.58626	.	0.765433	0.10548	U	0.661786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-15.2342	15.0163	0.71588	0.0:0.8574:0.1426:0.0	.	.	.	.	X	458;458;577	.	ENSP00000350469:E458X	E	-	1	0	FAM123A	24642029	0.904000	0.30761	0.972000	0.41901	0.904000	0.53231	1.375000	0.34295	2.619000	0.88677	0.561000	0.74099	GAG	FAM123A	-	pfam_Uncharacterised_FAM123		0.592	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	HGNC	protein_coding	OTTHUMT00000370229.1	C	NM_152704		25744029	-1	no_errors	ENST00000515384	ensembl	human	known	70_37	nonsense	SNP	0.996	A
FAM27L	284123	genome.wustl.edu	37	17	21826336	21826336	+	lincRNA	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:21826336C>T	ENST00000426869.3	+	0	519					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CCCTTATGCCCGTGGCGGTGG	0.572																																																	0													33.0	36.0	35.0					17																	21826336		1972	4144	6116			284123			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826336C>T				RNA	SNP	-	NULL	ENST00000426869.3	37	NULL		17																																																																																			FAM27L	-	-		0.572	FAM27L-001	KNOWN	basic	lincRNA	FAM27L	HGNC	lincRNA	OTTHUMT00000389059.2	C	NM_203392		21826336	+1	no_errors	ENST00000426869	ensembl	human	known	70_37	rna	SNP	0.016	T
FASTKD5	60493	genome.wustl.edu	37	20	3128327	3128327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr20:3128327C>A	ENST00000380266.3	-	2	1711	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	464					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGGTTGAATTCAGGCATCTTT	0.458																																																	0													122.0	127.0	125.0					20																	3128327		2203	4300	6503	SO:0001587	stop_gained	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1390G>T	20.37:g.3128327C>A	ENSP00000369618:p.Glu464*		Q96JN3|Q9H5D1|Q9H8Y3	Nonsense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.E464*	ENST00000380266.3	37	c.1390	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.374966	0.97515	.	.	ENSG00000215251	ENST00000380266	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.2602	0.93964	0.0:1.0:0.0:0.0	.	.	.	.	X	464	.	ENSP00000369618:E464X	E	-	1	0	FASTKD5	3076327	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.195000	0.77798	2.631000	0.89168	0.313000	0.20887	GAA	FASTKD5	-	pfam_FAST_Leu-rich		0.458	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	C	NM_021826		3128327	-1	no_errors	ENST00000380266	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FERMT1	55612	genome.wustl.edu	37	20	6057200	6057200	+	3'UTR	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr20:6057200C>T	ENST00000217289.4	-	0	3442				FERMT1_ENST00000536936.1_3'UTR|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGGCAGGTATCACTGTGGACA	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.*620G>A	20.37:g.6057200C>T			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	RNA	SNP	-	NULL	ENST00000217289.4	37	NULL	CCDS13098.1	20																																																																																			FERMT1	-	-		0.552	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	C	NM_017671		6057200	-1	no_errors	ENST00000478194	ensembl	human	known	70_37	rna	SNP	0.000	T
FGD3	89846	genome.wustl.edu	37	9	95797815	95797815	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:95797815C>A	ENST00000375482.3	+	18	2618	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K	FGD3_ENST00000416701.2_Missense_Mutation_p.Q707K|FGD3_ENST00000538555.1_Missense_Mutation_p.Q311K|FGD3_ENST00000337352.6_Missense_Mutation_p.Q708K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	708					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGACACGGCCCAGGACAGCCC	0.662																																																	0													28.0	34.0	32.0					9																	95797815		2083	4198	6281	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2122C>A	9.37:g.95797815C>A	ENSP00000364631:p.Gln708Lys		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.Q708K	ENST00000375482.3	37	c.2122	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602586	0.03744	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71341	-0.45;-0.45;-0.45;-0.56	4.25	1.66	0.24008	.	2.002420	0.02684	N	0.109929	T	0.49304	0.1549	N	0.14661	0.345	0.09310	N	1	B;B	0.22480	0.07;0.029	B;B	0.21151	0.033;0.008	T	0.39781	-0.9597	10	0.07644	T	0.81	.	3.3085	0.07009	0.0:0.501:0.2466:0.2524	.	707;708	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	708;707;708;311	ENSP00000364631:Q708K;ENSP00000413833:Q707K;ENSP00000336914:Q708K;ENSP00000442560:Q311K	ENSP00000336914:Q708K	Q	+	1	0	FGD3	94837636	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.280000	0.18790	0.450000	0.26774	0.561000	0.74099	CAG	FGD3	-	NULL		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	C	NM_033086		95797815	+1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.000	A
FGD5	152273	genome.wustl.edu	37	3	14861277	14861277	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:14861277G>T	ENST00000285046.5	+	1	809	c.699G>T	c.(697-699)tcG>tcT	p.S233S	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	233	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGAGGGTTCGGGTCCTGACA	0.662																																																	0													13.0	18.0	16.0					3																	14861277		2057	4194	6251	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.699G>T	3.37:g.14861277G>T			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S233	ENST00000285046.5	37	c.699	CCDS46767.1	3																																																																																			FGD5	-	NULL		0.662	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14861277	+1	no_errors	ENST00000285046	ensembl	human	known	70_37	silent	SNP	0.000	T
FGF8	2253	genome.wustl.edu	37	10	103530218	103530218	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:103530218G>T	ENST00000344255.3	-	6	569	c.570C>A	c.(568-570)gtC>gtA	p.V190V	FGF8_ENST00000347978.2_Silent_p.V172V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.V161V|FGF8_ENST00000320185.2_Silent_p.V201V			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	190					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TCATGAAGTGGACCTCACGCT	0.677																																																	0													34.0	36.0	35.0					10																	103530218		2203	4300	6503	SO:0001819	synonymous_variant	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.570C>A	10.37:g.103530218G>T			A1A514|Q14915|Q15766	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.V201	ENST00000344255.3	37	c.603	CCDS7517.1	10																																																																																			FGF8	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.677	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	G	NM_006119, NM_033165		103530218	-1	no_errors	ENST00000320185	ensembl	human	known	70_37	silent	SNP	1.000	T
FKBP10	60681	genome.wustl.edu	37	17	39975837	39975837	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:39975837G>T	ENST00000321562.4	+	6	1077	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	FKBP10_ENST00000544340.1_Missense_Mutation_p.G37W	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	325	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CATCATCCCCGGGATGGACCA	0.617																																																	0													48.0	44.0	46.0					17																	39975837		2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.973G>T	17.37:g.39975837G>T	ENSP00000317232:p.Gly325Trp		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.G325W	ENST00000321562.4	37	c.973	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.295594	0.95574	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	D;D	0.89810	-2.57;-2.57	5.62	5.62	0.85841	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	H	0.99425	4.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99013	1.0815	10	0.87932	D	0	-20.1384	19.2366	0.93862	0.0:0.0:1.0:0.0	.	37;325	Q9H6J3;Q96AY3	.;FKB10_HUMAN	W	213;325;325;37	ENSP00000317232:G325W;ENSP00000442009:G37W	ENSP00000269598:G213W	G	+	1	0	FKBP10	37229363	1.000000	0.71417	0.967000	0.41034	0.788000	0.44548	7.967000	0.87967	2.651000	0.90000	0.561000	0.74099	GGG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.617	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39975837	+1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20929595	20929595	+	Splice_Site	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:20929595G>T	ENST00000380249.1	+	29	3681	c.3317G>T	c.(3316-3318)aGt>aTt	p.S1106I	FOCAD_ENST00000605086.1_Splice_Site_p.S542I|FOCAD_ENST00000338382.6_Splice_Site_p.S1106I	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1106						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGAAACTCAGGTACAGTTTA	0.393																																																	0													94.0	85.0	88.0					9																	20929595		2203	4300	6503	SO:0001630	splice_region_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3317+1G>T	9.37:g.20929595G>T			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S1106I	ENST00000380249.1	37	c.3317	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468049	0.84533	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67698	-0.28;-0.28	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82697	-0.0329	10	0.87932	D	0	-0.5121	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1106	Q5VW36	K1797_HUMAN	I	1106	ENSP00000369599:S1106I;ENSP00000344307:S1106I	ENSP00000344307:S1106I	S	+	2	0	KIAA1797	20919595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.180000	0.77674	2.879000	0.98667	0.650000	0.86243	AGT	FOCAD	-	superfamily_ARM-type_fold		0.393	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794	Missense_Mutation	20929595	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	T
GATAD1	57798	genome.wustl.edu	37	7	92083840	92083840	+	Missense_Mutation	SNP	G	G	T	rs554905494		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:92083840G>T	ENST00000287957.3	+	4	737	c.460G>T	c.(460-462)Gtt>Ttt	p.V154F		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	154						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATTGGTGATGTTGTTTCTGT	0.393																																																	0													208.0	200.0	203.0					7																	92083840		2203	4300	6503	SO:0001583	missense	57798				CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"""GATA zinc finger domain containing"""	29941	protein-coding gene	gene with protein product	"""ocular development associated gene"""	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.460G>T	7.37:g.92083840G>T	ENSP00000287957:p.Val154Phe		B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.V154F	ENST00000287957.3	37	c.460	CCDS5625.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.285657	0.95517	.	.	ENSG00000157259	ENST00000287957	D	0.88431	-2.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	D	0.92670	0.6149	10	0.87932	D	0	-27.1202	20.3811	0.98930	0.0:0.0:1.0:0.0	.	154	Q8WUU5	GATD1_HUMAN	F	154	ENSP00000287957:V154F	ENSP00000287957:V154F	V	+	1	0	GATAD1	91921776	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.598000	0.98277	2.821000	0.97095	0.650000	0.86243	GTT	GATAD1	-	NULL		0.393	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD1	HGNC	protein_coding	OTTHUMT00000253929.2	G	NM_021167		92083840	+1	no_errors	ENST00000287957	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR179	440435	genome.wustl.edu	37	17	36484666	36484666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:36484666C>A	ENST00000342292.4	-	11	4806	c.4786G>T	c.(4786-4788)Gag>Tag	p.E1596*	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1596					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCATTTACCTCCCAGGGACAG	0.493																																																	0													163.0	161.0	162.0					17																	36484666		1984	4180	6164	SO:0001587	stop_gained	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4786G>T	17.37:g.36484666C>A	ENSP00000345060:p.Glu1596*			Nonsense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E1596*	ENST00000342292.4	37	c.4786	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.121756	0.99340	.	.	ENSG00000188888	ENST00000342292	.	.	.	4.99	4.03	0.46877	.	0.298726	0.24063	N	0.041883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.8377	10.9461	0.47301	0.0:0.9122:0.0:0.0878	.	.	.	.	X	1596	.	ENSP00000345060:E1596X	E	-	1	0	GPR179	33738192	1.000000	0.71417	0.995000	0.50966	0.388000	0.30384	3.776000	0.55356	1.337000	0.45525	-0.224000	0.12420	GAG	GPR179	-	NULL		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36484666	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GPRC6A	222545	genome.wustl.edu	37	6	117128267	117128267	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:117128267G>T	ENST00000310357.3	-	3	622	c.601C>A	c.(601-603)Cac>Aac	p.H201N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H201N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H201N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	201					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAATCAGGTGAGCCATTGCT	0.413																																																	0													175.0	180.0	178.0					6																	117128267		2203	4299	6502	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.601C>A	6.37:g.117128267G>T	ENSP00000309493:p.His201Asn		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.H201N	ENST00000310357.3	37	c.601	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032421	0.35893	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.82167	-1.58;-1.58;-1.58	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000019	T	0.64416	0.2596	L	0.39085	1.19	0.21184	N	0.999761	P;P;B	0.43662	0.814;0.774;0.404	B;B;B	0.36922	0.21;0.236;0.167	T	0.63585	-0.6604	10	0.38643	T	0.18	.	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	201;201;201	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	N	201	ENSP00000309493:H201N;ENSP00000357537:H201N;ENSP00000433465:H201N	ENSP00000309493:H201N	H	-	1	0	GPRC6A	117234960	0.632000	0.27172	1.000000	0.80357	0.947000	0.59692	1.706000	0.37878	2.941000	0.99782	0.655000	0.94253	CAC	GPRC6A	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	G			117128267	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	0.880	T
GTF2IRD1	9569	genome.wustl.edu	37	7	73927291	73927291	+	Silent	SNP	C	C	A	rs377354300		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:73927291C>A	ENST00000265755.3	+	3	648	c.255C>A	c.(253-255)ctC>ctA	p.L85L	GTF2IRD1_ENST00000476977.1_Silent_p.L85L|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.L85L|GTF2IRD1_ENST00000455841.2_Silent_p.L85L	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	85					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGACTTCCTCAGGTTCTGCC	0.637																																																	0													82.0	70.0	74.0					7																	73927291		2203	4300	6503	SO:0001819	synonymous_variant	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.255C>A	7.37:g.73927291C>A			O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L85	ENST00000265755.3	37	c.255	CCDS5571.1	7																																																																																			GTF2IRD1	-	pirsf_TF_II-I		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	C	NM_016328		73927291	+1	no_errors	ENST00000265755	ensembl	human	known	70_37	silent	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112720970	112720970	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:112720970G>T	ENST00000430131.2	-	8	1435	c.290C>A	c.(289-291)aCg>aAg	p.T97K	HECTD4_ENST00000550722.1_Missense_Mutation_p.T347K|HECTD4_ENST00000377560.5_Missense_Mutation_p.T347K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	97					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCAGCAAGCGTTGCTGACGG	0.463																																																	0													105.0	101.0	102.0					12																	112720970		1975	4152	6127	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.290C>A	12.37:g.112720970G>T	ENSP00000404379:p.Thr97Lys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T347K	ENST00000430131.2	37	c.1040		12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820313	0.90873	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53423	0.84;0.62;0.83	5.62	5.62	0.85841	.	.	.	.	.	T	0.52058	0.1711	N	0.08118	0	0.53005	D	0.999969	D	0.63880	0.993	D	0.74023	0.982	T	0.63161	-0.6699	9	0.72032	D	0.01	.	19.6499	0.95796	0.0:0.0:1.0:0.0	.	97	Q9Y4D8	K0614_HUMAN	K	347;97;347	ENSP00000366783:T347K;ENSP00000404379:T97K;ENSP00000449784:T347K	ENSP00000366783:T347K	T	-	2	0	C12orf51	111205353	1.000000	0.71417	0.152000	0.22495	0.690000	0.40134	9.434000	0.97515	2.663000	0.90544	0.561000	0.74099	ACG	HECTD4	-	NULL		0.463	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112720970	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T
HECW1	23072	genome.wustl.edu	37	7	43484164	43484164	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:43484164G>T	ENST00000395891.2	+	11	1998	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	HECW1_ENST00000453890.1_Missense_Mutation_p.G465C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	465	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTGGACCTGGGTGAGGAGGC	0.657																																																	0													15.0	18.0	17.0					7																	43484164		2095	4220	6315	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1393G>T	7.37:g.43484164G>T	ENSP00000379228:p.Gly465Cys		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G465C	ENST00000395891.2	37	c.1393	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758205	0.31137	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31247	1.5;1.5	5.27	3.3	0.37823	.	4.801260	0.00166	N	0.000003	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999998	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.15838	-1.0423	10	0.56958	D	0.05	.	5.6554	0.17640	0.074:0.1411:0.6385:0.1465	.	465;465	B4DH42;Q76N89	.;HECW1_HUMAN	C	465	ENSP00000379228:G465C;ENSP00000407774:G465C	ENSP00000265522:G465C	G	+	1	0	HECW1	43450689	1.000000	0.71417	0.685000	0.30070	0.637000	0.38172	2.771000	0.47670	1.320000	0.45209	0.561000	0.74099	GGT	HECW1	-	NULL		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484164	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.053	T
HEPACAM2	253012	genome.wustl.edu	37	7	92825163	92825163	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:92825163delG	ENST00000394468.2	-	8	1330	c.1253delC	c.(1252-1254)ccafs	p.P418fs	HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.Q398fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.P441fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.P406fs|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	418					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGAAACATCTGGAAAAGCAAC	0.393																																																	0													119.0	116.0	117.0					7																	92825163		2203	4300	6503	SO:0001589	frameshift_variant	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1253delC	7.37:g.92825163delG	ENSP00000377980:p.Pro418fs		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P418fs	ENST00000394468.2	37	c.1253	CCDS43616.1	7																																																																																			HEPACAM2	-	NULL		0.393	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	G	NM_198151		92825163	-1	no_errors	ENST00000394468	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
HERC2P4	100289574	genome.wustl.edu	37	16	32182511	32182511	+	RNA	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:32182511G>T	ENST00000564730.1	-	0	104									hect domain and RLD 2 pseudogene 4																		GACACAAAAAGCCCTGCAACA	0.502																																																	0																																												100289574					16p11.2	2014-03-18			ENSG00000230267	ENSG00000230267			4872	pseudogene	pseudogene							Standard	NR_109773		Approved	D16F37S5	uc002ecx.4		OTTHUMG00000176563		16.37:g.32182511G>T				RNA	SNP	-	NULL	ENST00000564730.1	37	NULL		16																																																																																			HERC2P4	-	-		0.502	HERC2P4-006	KNOWN	basic	processed_transcript	HERC2P4	HGNC	pseudogene	OTTHUMT00000432538.1	G	NR_002827		32182511	-1	no_errors	ENST00000564730	ensembl	human	known	70_37	rna	SNP	1.000	T
IFNGR2	3460	genome.wustl.edu	37	21	34799326	34799326	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr21:34799326G>T	ENST00000290219.6	+	4	1196	c.548G>T	c.(547-549)gGa>gTa	p.G183V	IFNGR2_ENST00000405436.1_Missense_Mutation_p.G104V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.G202V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	183	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TGGGAAAAAGGAGGAATCCAA	0.423																																																	0													195.0	202.0	200.0					21																	34799326		2203	4300	6503	SO:0001583	missense	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.548G>T	21.37:g.34799326G>T	ENSP00000290219:p.Gly183Val		Q9BTL5	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G183V	ENST00000290219.6	37	c.548	CCDS33544.1	21	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824561	0.32237	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.50277	0.75;0.75;0.75	5.38	-10.8	0.00216	Fibronectin, type III (3);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	2.317520	0.01513	N	0.018003	T	0.40398	0.1115	L	0.49778	1.585	0.09310	N	0.999995	P;B	0.39352	0.669;0.27	B;B	0.38106	0.265;0.136	T	0.54029	-0.8354	10	0.62326	D	0.03	0.2837	12.5057	0.55979	0.3299:0.1862:0.4839:0.0	.	202;183	E7EUY1;P38484	.;INGR2_HUMAN	V	183;202;104	ENSP00000290219:G183V;ENSP00000371425:G202V;ENSP00000385044:G104V	ENSP00000290219:G183V	G	+	2	0	IFNGR2	33721196	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.081000	0.03403	-1.875000	0.01132	-0.256000	0.11100	GGA	IFNGR2	-	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR2	HGNC	protein_coding	OTTHUMT00000139916.1	G			34799326	+1	no_errors	ENST00000290219	ensembl	human	known	70_37	missense	SNP	0.000	T
KBTBD4	55709	genome.wustl.edu	37	11	47599541	47599541	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:47599541G>T	ENST00000526005.1	-	2	164	c.11C>A	c.(10-12)cCa>cAa	p.P4Q	NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20Q|KBTBD4_ENST00000450908.1_3'UTR|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4Q|KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53Q|KBTBD4_ENST00000533290.1_Missense_Mutation_p.P29Q|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000529276.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	4										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AGGCTCCTCTGGTGATTCCAT	0.478																																																	0													65.0	64.0	65.0					11																	47599541		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.11C>A	11.37:g.47599541G>T	ENSP00000433340:p.Pro4Gln		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P20Q	ENST00000526005.1	37	c.59	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696735	0.48202	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.76578	-0.55;-0.58;-0.55;-0.58;-0.46;-0.65;-1.02;-1.03;-0.83	5.13	5.13	0.70059	.	0.365044	0.32081	N	0.006604	T	0.63212	0.2492	N	0.14661	0.345	0.32237	N	0.573258	B;B;B	0.26195	0.144;0.037;0.089	B;B;B	0.25987	0.065;0.029;0.029	T	0.68108	-0.5496	10	0.41790	T	0.15	-11.8572	13.2908	0.60270	0.0769:0.0:0.9231:0.0	.	20;4;29	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	Q	4;29;4;20;20;53;4;4;4;29	ENSP00000433340:P4Q;ENSP00000436713:P29Q;ENSP00000378703:P4Q;ENSP00000415106:P20Q;ENSP00000434477:P53Q;ENSP00000433404:P4Q;ENSP00000433653:P4Q;ENSP00000435651:P4Q;ENSP00000433124:P29Q	ENSP00000352971:P20Q	P	-	2	0	KBTBD4	47556117	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.492000	0.53259	2.532000	0.85374	0.561000	0.74099	CCA	KBTBD4	-	NULL		0.478	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	G	NM_016506		47599541	-1	no_errors	ENST00000430070	ensembl	human	known	70_37	missense	SNP	0.994	T
NWD2	57495	genome.wustl.edu	37	4	37444950	37444950	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:37444950C>A	ENST00000309447.5	+	7	2188	c.1340C>A	c.(1339-1341)cCa>cAa	p.P447Q		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		447	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GAATCTGACCCAGTAGTCATC	0.433																																																	0													122.0	101.0	107.0					4																	37444950		692	1591	2283	SO:0001583	missense	57495																														ENST00000309447.5:c.1340C>A	4.37:g.37444950C>A	ENSP00000309501:p.Pro447Gln		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.P447Q	ENST00000309447.5	37	c.1340	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591849	0.86953	.	.	ENSG00000174145	ENST00000309447	T	0.77358	-1.09	5.88	5.04	0.67666	.	.	.	.	.	D	0.86083	0.5848	M	0.75615	2.305	0.80722	D	1	D	0.59767	0.986	P	0.62298	0.9	D	0.87020	0.2128	9	0.52906	T	0.07	.	14.947	0.71039	0.0:0.9316:0.0:0.0684	.	447	Q9ULI1	K1239_HUMAN	Q	447	ENSP00000309501:P447Q	ENSP00000309501:P447Q	P	+	2	0	KIAA1239	37121345	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	7.456000	0.80751	1.482000	0.48325	0.650000	0.86243	CCA	KIAA1239	-	NULL		0.433	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	C			37444950	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1731	85459	genome.wustl.edu	37	11	93431029	93431029	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:93431029G>A	ENST00000325212.6	+	15	3113	c.2951G>A	c.(2950-2952)aGa>aAa	p.R984K	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Missense_Mutation_p.R984K|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	984						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAATTGGATAGAAGAGTATGT	0.408																																																	0													75.0	70.0	71.0					11																	93431029		692	1591	2283	SO:0001583	missense	85459			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.2951G>A	11.37:g.93431029G>A	ENSP00000316681:p.Arg984Lys		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.R984K	ENST00000325212.6	37	c.2951	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.369607	0.01225	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.20738	2.05;2.05	5.41	1.99	0.26369	.	0.811804	0.10713	N	0.642658	T	0.07234	0.0183	N	0.04508	-0.205	0.09310	N	0.999993	B	0.09022	0.002	B	0.04013	0.001	T	0.39313	-0.9620	10	0.02654	T	1	-0.381	5.4924	0.16783	0.3973:0.0:0.6027:0.0	.	984	Q9C0D2	K1731_HUMAN	K	984	ENSP00000316681:R984K;ENSP00000406505:R984K	ENSP00000316681:R984K	R	+	2	0	KIAA1731	93070677	0.008000	0.16893	0.002000	0.10522	0.022000	0.10575	0.436000	0.21526	0.745000	0.32763	0.655000	0.94253	AGA	KIAA1731	-	NULL		0.408	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93431029	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.006	A
MZF1	7593	genome.wustl.edu	37	19	59084045	59084045	+	Intron	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:59084045G>T	ENST00000215057.2	-	1	521				RPL23AP79_ENST00000493504.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_5'UTR|MZF1_ENST00000594234.1_Intron|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Intron	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CATCCTGGGGGCCAAGCCTCC	0.572																																																	0																																										SO:0001627	intron_variant	100131691			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.39+376C>A	19.37:g.59084045G>T			M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	RNA	SNP	-	NULL	ENST00000215057.2	37	NULL	CCDS12988.1	19																																																																																			AC016629.8	-	-		0.572	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131691	Clone_based_vega_gene	protein_coding	OTTHUMT00000467112.1	G	NM_198055		59084045	+1	no_errors	ENST00000600534	ensembl	human	known	70_37	rna	SNP	0.001	T
LOC284788	284788	genome.wustl.edu	37	20	22381260	22381260	+	lincRNA	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr20:22381260C>A	ENST00000377121.1	-	0	1394					NR_027089.1																						atggacacgccacatgttttg	0.438																																																	0																																												284788																															20.37:g.22381260C>A				RNA	SNP	-	NULL	ENST00000377121.1	37	NULL		20																																																																																			RP5-1004I9.1	-	-		0.438	RP5-1004I9.1-001	KNOWN	basic	lincRNA	LOC284788	Clone_based_vega_gene	lincRNA	OTTHUMT00000078288.2	C			22381260	-1	no_errors	ENST00000377121	ensembl	human	known	70_37	rna	SNP	0.000	A
LYST	1130	genome.wustl.edu	37	1	235952024	235952024	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:235952024G>T	ENST00000389794.3	-	13	4839	c.4665C>A	c.(4663-4665)ccC>ccA	p.P1555P	LYST_ENST00000389793.2_Silent_p.P1555P|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1555					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGCATTGTGGGGATCAGCCC	0.368																																																	0													98.0	84.0	89.0					1																	235952024		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4665C>A	1.37:g.235952024G>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1555	ENST00000389794.3	37	c.4665	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235952024	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	0.191	T
MAGED2	10916	genome.wustl.edu	37	X	54835684	54835684	+	Intron	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:54835684G>T	ENST00000375068.1	+	2	204				MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375053.2_Intron|MAGED2_ENST00000375058.1_Intron|MAGED2_ENST00000497484.1_Intron|MAGED2_ENST00000347546.4_Intron|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000218439.4_Intron|MAGED2_ENST00000396224.1_Intron			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GGCACAACAGGGGAGAGGACG	0.562																																																	0																																										SO:0001627	intron_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.-29-52G>T	X.37:g.54835684G>T			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	RNA	SNP	-	NULL	ENST00000375068.1	37	NULL	CCDS14362.1	X																																																																																			MAGED2	-	-		0.562	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	G	NM_014599		54835684	+1	no_errors	ENST00000485483	ensembl	human	known	70_37	rna	SNP	0.000	T
MAGEC2	51438	genome.wustl.edu	37	X	141290914	141290914	+	Missense_Mutation	SNP	C	C	T	rs142943547		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:141290914C>T	ENST00000247452.3	-	3	1207	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	287	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R287L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCTCCCGATACTCCAG	0.502										HNSCC(46;0.14)																																							1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,3835		0,0,1632,571	85.0	85.0	85.0		860	-1.2	0.0	X	dbSNP_134	85	2,6726		0,2,2426,1872	no	missense	MAGEC2	NM_016249.3	43	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	possibly-damaging	287/374	141290914	2,10561	2203	4300	6503	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.860G>A	X.37:g.141290914C>T	ENSP00000354660:p.Arg287Gln		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R287Q	ENST00000247452.3	37	c.860	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	4.832	0.154739	0.09236	0.0	2.97E-4	ENSG00000046774	ENST00000247452	T	0.05786	3.39	0.988	-1.17	0.09648	.	2.039640	0.04377	U	0.360087	T	0.06735	0.0172	L	0.49571	1.57	0.09310	N	1	P	0.38110	0.618	B	0.35114	0.196	T	0.31668	-0.9935	10	0.38643	T	0.18	.	3.9835	0.09504	0.0:0.4715:0.0:0.5285	.	287	Q9UBF1	MAGC2_HUMAN	Q	287	ENSP00000354660:R287Q	ENSP00000354660:R287Q	R	-	2	0	MAGEC2	141118580	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.787000	0.04618	-0.595000	0.05828	0.284000	0.19432	CGG	MAGEC2	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	C	NM_016249		141290914	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	missense	SNP	0.001	T
MALAT1	378938	genome.wustl.edu	37	11	65273653	65273653	+	lincRNA	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:65273653G>A	ENST00000534336.1	+	0	8421					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCTTTGCTTTGACTACTAATC	0.453																																																	0													71.0	70.0	71.0					11																	65273653		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273653G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.453	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65273653	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.005	A
MCRS1	10445	genome.wustl.edu	37	12	49953006	49953006	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:49953006G>T	ENST00000550165.1	-	14	1431	c.1165C>A	c.(1165-1167)Cgg>Agg	p.R389R	MCRS1_ENST00000546244.1_Silent_p.R198R|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.R402R|MCRS1_ENST00000343810.4_Silent_p.R389R			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	389	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTTGTTTCCGGGATATCTTC	0.602																																																	0													50.0	45.0	47.0					12																	49953006		2203	4300	6503	SO:0001819	synonymous_variant	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1165C>A	12.37:g.49953006G>T			O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R402	ENST00000550165.1	37	c.1204	CCDS8787.1	12																																																																																			MCRS1	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	G	NM_006337		49953006	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	silent	SNP	1.000	T
CYP27B1	1594	genome.wustl.edu	37	12	58163158	58163158	+	5'Flank	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:58163158C>A	ENST00000228606.4	-	0	0				METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|CYP27B1_ENST00000546496.1_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000324871.7_Silent_p.L201L|METTL1_ENST00000257848.7_Nonsense_Mutation_p.G140*	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CGTGTAGCTCCAGCACATCGG	0.552																																																	0													85.0	68.0	74.0					12																	58163158		2203	4300	6503	SO:0001631	upstream_gene_variant	4234			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58163158C>A	Exception_encountered		B2RC61|Q548T3	Nonsense_Mutation	SNP	NULL	p.G140*	ENST00000228606.4	37	c.418	CCDS8954.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.253550|3.253550	0.59212|0.59212	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000257848;ENST00000548504|ENST00000547653	.|.	.|.	.|.	5.82|5.82	4.01|4.01	0.46588|0.46588	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49881	.|0.1583	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58194	.|-0.7679	.|3	0.72032|.	D|.	0.01|.	-1.7873|-1.7873	7.7467|7.7467	0.28873|0.28873	0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116	.|.	.|.	.|.	.|.	X|L	140;66|47	.|.	ENSP00000257848:G140X|.	G|W	-|-	1|2	0|0	METTL1|METTL1	56449425|56449425	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	0.638000|0.638000	0.24674|0.24674	0.820000|0.820000	0.34516|0.34516	-0.136000|-0.136000	0.14681|0.14681	GGA|TGG	METTL1	-	NULL		0.552	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	HGNC	protein_coding	OTTHUMT00000409248.1	C	NM_000785		58163158	-1	no_errors	ENST00000257848	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MICALL1	85377	genome.wustl.edu	37	22	38313730	38313730	+	Silent	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr22:38313730C>A	ENST00000215957.6	+	4	480	c.354C>A	c.(352-354)ccC>ccA	p.P118P		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	118					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCTCGCCACCCAGAAAGGGCC	0.592																																																	0													74.0	62.0	66.0					22																	38313730		2203	4300	6503	SO:0001819	synonymous_variant	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.354C>A	22.37:g.38313730C>A			Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P118	ENST00000215957.6	37	c.354	CCDS13961.1	22																																																																																			MICALL1	-	NULL		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	C	NM_033386		38313730	+1	no_errors	ENST00000215957	ensembl	human	known	70_37	silent	SNP	0.993	A
MIR3687-2	103504728	genome.wustl.edu	37	21	9825951	9825951	+	RNA	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr21:9825951G>A	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						TCCCGGCTGCGGTCGGCCGCG	0.821																																																	0																																												100500862																															21.37:g.9825951G>A				RNA	SNP	-	NULL	ENST00000577708.1	37	NULL		21																																																																																			MIR3648	-	-		0.821	MIR3687-201	KNOWN	basic	miRNA	MIR3648	HGNC	miRNA		G			9825951	+1	no_errors	ENST00000581792	ensembl	human	known	70_37	rna	SNP	0.032	A
MRPL14	64928	genome.wustl.edu	37	6	44081737	44081737	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:44081737G>T	ENST00000372014.3	-	3	412	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	94					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			GGTCATTCGGGGGCCAGGCAT	0.557																																																	0													117.0	121.0	120.0					6																	44081737		2203	4300	6503	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.281C>A	6.37:g.44081737G>T	ENSP00000361084:p.Pro94His		B2R575|Q96Q72	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.P94H	ENST00000372014.3	37	c.281	CCDS34460.1	6	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402851	0.42613	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.69	5.69	0.88448	Ribosomal protein L14 domain (2);	0.416516	0.26341	N	0.024928	T	0.31009	0.0783	N	0.25144	0.715	0.09310	N	0.999999	P	0.42941	0.794	P	0.50791	0.65	T	0.21999	-1.0229	9	0.40728	T	0.16	-9.9202	18.8032	0.92027	0.0:0.0:1.0:0.0	.	94	Q6P1L8	RM14_HUMAN	H	94	.	ENSP00000361084:P94H	P	-	2	0	MRPL14	44189715	1.000000	0.71417	0.448000	0.26945	0.411000	0.31082	5.009000	0.63998	2.681000	0.91329	0.561000	0.74099	CCC	MRPL14	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom		0.557	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL14	HGNC	protein_coding	OTTHUMT00000040707.1	G	NM_032111		44081737	-1	no_errors	ENST00000372014	ensembl	human	known	70_37	missense	SNP	0.182	T
MUC16	94025	genome.wustl.edu	37	19	9090910	9090910	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:9090910G>A	ENST00000397910.4	-	1	1108	c.905C>T	c.(904-906)tCa>tTa	p.S302L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	302	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCTGGCCTGAGAATATGCT	0.507																																																	0													113.0	116.0	115.0					19																	9090910		2006	4182	6188	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.905C>T	19.37:g.9090910G>A	ENSP00000381008:p.Ser302Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S302L	ENST00000397910.4	37	c.905	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.831	0.154581	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.34	1.34	0.21922	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.42716	-0.9435	8	0.87932	D	0	.	6.1523	0.20318	0.0:0.0:1.0:0.0	.	302	B5ME49	.	L	302	ENSP00000381008:S302L	ENSP00000381008:S302L	S	-	2	0	MUC16	8951910	0.003000	0.15002	0.004000	0.12327	0.029000	0.11900	0.222000	0.17699	1.063000	0.40649	0.306000	0.20318	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9090910	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.005	A
MUC4	4585	genome.wustl.edu	37	3	195507119	195507119	+	Missense_Mutation	SNP	G	G	A	rs201262457		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195507119G>A	ENST00000463781.3	-	2	11791	c.11332C>T	c.(11332-11334)Cct>Tct	p.P3778S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3778S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCGGTGACAGGAAGAGGCGTG	0.597																																																	0													22.0	17.0	18.0					3																	195507119		687	1583	2270	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11332C>T	3.37:g.195507119G>A	ENSP00000417498:p.Pro3778Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P3778S	ENST00000463781.3	37	c.11332	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.484	0.274366	0.10403	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.27104	1.69;1.72	.	.	.	.	0.000000	0.25881	U	0.027698	T	0.23289	0.0563	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.09952	-1.0651	8	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	3650	E7ESK3	.	S	3778	ENSP00000417498:P3778S;ENSP00000420243:P3778S	.	P	-	1	0	MUC4	196991898	0.219000	0.23619	0.042000	0.18584	0.042000	0.13812	1.024000	0.30077	0.064000	0.16427	0.064000	0.15345	CCT	MUC4	-	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195507119	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.296	A
MUC4	4585	genome.wustl.edu	37	3	195508223	195508223	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195508223G>A	ENST00000463781.3	-	2	10687	c.10228C>T	c.(10228-10230)Cct>Tct	p.P3410S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3410S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTAGTGACAGGAAGAGGCATG	0.582																																																	0													25.0	20.0	22.0					3																	195508223		687	1574	2261	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10228C>T	3.37:g.195508223G>A	ENSP00000417498:p.Pro3410Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P3410S	ENST00000463781.3	37	c.10228	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	6.196	0.404414	0.11754	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36520	1.32;1.25	0.743	-0.725	0.11174	.	.	.	.	.	T	0.17280	0.0415	N	0.19112	0.55	0.09310	N	1	B	0.27853	0.191	B	0.16722	0.016	T	0.20538	-1.0272	8	.	.	.	.	4.4534	0.11631	0.33:0.0:0.67:0.0	.	3282	E7ESK3	.	S	3410	ENSP00000417498:P3410S;ENSP00000420243:P3410S	.	P	-	1	0	MUC4	196993002	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-1.828000	0.01702	0.088000	0.17205	0.089000	0.15464	CCT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195508223	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.005	A
MUC4	4585	genome.wustl.edu	37	3	195508226	195508226	+	Missense_Mutation	SNP	G	G	A	rs537584428	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195508226G>A	ENST00000463781.3	-	2	10684	c.10225C>T	c.(10225-10227)Ctt>Ttt	p.L3409F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3409F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGCATGGTG	0.592																																																	0													26.0	20.0	22.0					3																	195508226		687	1575	2262	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10225C>T	3.37:g.195508226G>A	ENSP00000417498:p.Leu3409Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L3409F	ENST00000463781.3	37	c.10225	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	6.136	0.393384	0.11638	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35973	1.39;1.28	0.743	-0.725	0.11174	.	.	.	.	.	T	0.15652	0.0377	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.24476	-1.0159	8	.	.	.	.	1.4022	0.02273	0.324:0.0:0.3274:0.3486	.	3281	E7ESK3	.	F	3409	ENSP00000417498:L3409F;ENSP00000420243:L3409F	.	L	-	1	0	MUC4	196993005	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-0.675000	0.05227	0.088000	0.17205	0.089000	0.15464	CTT	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195508226	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.009	A
MUC4	4585	genome.wustl.edu	37	3	195512956	195512956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195512956G>T	ENST00000463781.3	-	2	5954	c.5495C>A	c.(5494-5496)tCa>tAa	p.S1832*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S1832*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGCGTC	0.587																																																	0													62.0	52.0	55.0					3																	195512956		692	1590	2282	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5495C>A	3.37:g.195512956G>T	ENSP00000417498:p.Ser1832*		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1832*	ENST00000463781.3	37	c.5495	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	43	10.245834	0.99367	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	0.423	0.423	0.16463	.	0.631403	0.09875	U	0.744475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7271	0.23363	2.0E-4:0.0:0.9998:0.0	.	.	.	.	X	1832	.	.	S	-	2	0	MUC4	196997351	0.005000	0.15991	0.009000	0.14445	0.056000	0.15407	0.874000	0.28065	0.494000	0.27859	0.089000	0.15464	TCA	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195512956	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.963	T
MUC4	4585	genome.wustl.edu	37	3	195515246	195515246	+	Missense_Mutation	SNP	G	G	A	rs557978362		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195515246G>A	ENST00000463781.3	-	2	3664	c.3205C>T	c.(3205-3207)Cac>Tac	p.H1069Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1069Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	502					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGACGTGACCTGTGGAT	0.572																																																	0													29.0	19.0	22.0					3																	195515246		691	1589	2280	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3205C>T	3.37:g.195515246G>A	ENSP00000417498:p.His1069Tyr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H1069Y	ENST00000463781.3	37	c.3205	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	0.069	-1.206962	0.01568	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34472	1.36;1.36	1.0	-2.01	0.07410	.	.	.	.	.	T	0.18130	0.0435	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.12837	-1.0532	8	.	.	.	.	4.4631	0.11676	0.0:0.3765:0.2454:0.3781	.	1069	E7ESK3	.	Y	1069	ENSP00000417498:H1069Y;ENSP00000420243:H1069Y	.	H	-	1	0	MUC4	196999641	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.960000	0.00325	-3.030000	0.00266	-2.366000	0.00237	CAC	MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515246	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195515821	195515821	+	Missense_Mutation	SNP	G	G	A	rs370791119		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195515821G>A	ENST00000463781.3	-	2	3089	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S877F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	882	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAGGCCTCAGAGAGGGTGGG	0.602																																																	0													55.0	58.0	57.0					3																	195515821		2065	4182	6247	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2630C>T	3.37:g.195515821G>A	ENSP00000417498:p.Ser877Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S877F	ENST00000463781.3	37	c.2630	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.882	0.163915	0.09287	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.68	1.8	0.24995	.	.	.	.	.	T	0.28665	0.0710	L	0.34521	1.04	0.09310	N	1	B;P	0.38827	0.431;0.649	B;B	0.29942	0.109;0.099	T	0.09378	-1.0677	9	0.37606	T	0.19	-3.2192	5.7198	0.17980	0.1536:0.0:0.8464:0.0	.	877;882	E7ESK3;Q99102	.;MUC4_HUMAN	F	877;877;851	ENSP00000417498:S877F;ENSP00000420243:S877F	ENSP00000376209:S851F	S	-	2	0	MUC4	197000216	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	1.807000	0.38902	0.698000	0.31739	0.579000	0.79373	TCT	MUC4	-	NULL		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515821	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC4	4585	genome.wustl.edu	37	3	195517135	195517135	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195517135G>A	ENST00000463781.3	-	2	1775	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S439F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	444					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAACTGGGGGAGAGTGCTGT	0.483																																																	0													212.0	208.0	210.0					3																	195517135		1963	4157	6120	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1316C>T	3.37:g.195517135G>A	ENSP00000417498:p.Ser439Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S439F	ENST00000463781.3	37	c.1316	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	2.890	-0.229844	0.06022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.32	1.39	0.22231	.	30.656100	0.00866	N	0.001963	T	0.55305	0.1912	L	0.42245	1.32	0.09310	N	1	D;D	0.59357	0.969;0.985	P;P	0.56788	0.806;0.795	T	0.34304	-0.9834	10	0.62326	D	0.03	.	5.477	0.16702	0.1683:0.0:0.8317:0.0	.	439;444	E7ESK3;Q99102	.;MUC4_HUMAN	F	439;439;413	ENSP00000417498:S439F;ENSP00000420243:S439F	ENSP00000376209:S413F	S	-	2	0	MUC4	197001530	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.053000	0.11846	0.527000	0.28560	0.430000	0.28490	TCC	MUC4	-	NULL		0.483	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195517135	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195517631	195517631	+	Missense_Mutation	SNP	G	G	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195517631G>C	ENST00000463781.3	-	2	1279	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L274V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	279					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTTTCCAAGAGTGGAGCCT	0.473																																																	0													176.0	159.0	165.0					3																	195517631		1951	4158	6109	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.820C>G	3.37:g.195517631G>C	ENSP00000417498:p.Leu274Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L274V	ENST00000463781.3	37	c.820	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	3.639	-0.073865	0.07184	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.40476	1.03;1.04	3.18	-1.83	0.07833	.	.	.	.	.	T	0.27384	0.0672	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.015	B;B	0.18263	0.021;0.004	T	0.29274	-1.0017	9	0.15952	T	0.53	.	4.8791	0.13670	0.2816:0.4543:0.2641:0.0	.	274;279	E7ESK3;Q99102	.;MUC4_HUMAN	V	274;274;248	ENSP00000417498:L274V;ENSP00000420243:L274V	ENSP00000376209:L248V	L	-	1	0	MUC4	197002026	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.274000	0.02820	-0.380000	0.07894	0.533000	0.62120	CTT	MUC4	-	NULL		0.473	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195517631	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195518150	195518150	+	Missense_Mutation	SNP	G	G	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:195518150G>C	ENST00000463781.3	-	2	760	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L101V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	101					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAAAAAAGAGTTGATGTC	0.478																																																	0													229.0	213.0	219.0					3																	195518150		2033	4176	6209	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.301C>G	3.37:g.195518150G>C	ENSP00000417498:p.Leu101Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L101V	ENST00000463781.3	37	c.301	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	3.238	-0.155962	0.06544	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.51071	0.72;0.75	3.56	-3.64	0.04515	.	1.520220	0.04461	N	0.374483	T	0.21550	0.0519	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.31191	0.125	T	0.08911	-1.0699	10	0.16896	T	0.51	-0.0733	0.1824	0.00125	0.3441:0.149:0.2059:0.301	.	101	E7ESK3	.	V	101;101;75	ENSP00000417498:L101V;ENSP00000420243:L101V	ENSP00000376209:L75V	L	-	1	0	MUC4	197002545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.648000	0.05391	-0.825000	0.04290	-1.206000	0.01644	CTT	MUC4	-	NULL		0.478	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195518150	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	C
MXRA5	25878	genome.wustl.edu	37	X	3242779	3242779	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:3242779C>A	ENST00000217939.6	-	5	1101	c.947G>T	c.(946-948)tGg>tTg	p.W316L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	316						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAGATGCTCCACTGGGGCAG	0.493																																																	0													107.0	82.0	91.0					X																	3242779		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.947G>T	X.37:g.3242779C>A	ENSP00000217939:p.Trp316Leu		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W316L	ENST00000217939.6	37	c.947	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165420	0.38217	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70631	-0.5	3.41	3.41	0.39046	.	0.000000	0.36268	U	0.002689	T	0.77130	0.4085	L	0.50333	1.59	0.34848	D	0.741419	D	0.76494	0.999	D	0.63957	0.92	T	0.81581	-0.0867	10	0.32370	T	0.25	.	14.6991	0.69145	0.0:1.0:0.0:0.0	.	316	Q9NR99	MXRA5_HUMAN	L	316	ENSP00000217939:W316L	ENSP00000217939:W316L	W	-	2	0	MXRA5	3252779	1.000000	0.71417	0.026000	0.17262	0.004000	0.04260	6.358000	0.73055	1.331000	0.45412	0.425000	0.28330	TGG	MXRA5	-	NULL		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3242779	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.997	A
NOS3	4846	genome.wustl.edu	37	7	150699020	150699020	+	Silent	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:150699020G>T	ENST00000484524.1	+	12	1614	c.1614G>T	c.(1612-1614)ctG>ctT	p.L538L	NOS3_ENST00000297494.3_Silent_p.L538L|NOS3_ENST00000461406.1_Silent_p.L332L|NOS3_ENST00000467517.1_Silent_p.L538L	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGCAGCTGGGGAGACTCT	0.637																																																	0													38.0	42.0	41.0					7																	150699020		2203	4300	6503	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1614G>T	7.37:g.150699020G>T			Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L538	ENST00000484524.1	37	c.1614	CCDS55182.1	7																																																																																			NOS3	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150699020	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	silent	SNP	1.000	T
NTNG1	22854	genome.wustl.edu	37	1	107866903	107866903	+	Splice_Site	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:107866903G>T	ENST00000370068.1	+	3	1092		c.e3-1		NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370070.2_Splice_Site|NTNG1_ENST00000542803.1_Splice_Site|NTNG1_ENST00000477948.1_Splice_Site|NTNG1_ENST00000370066.1_Splice_Site|NTNG1_ENST00000370071.2_Splice_Site|NTNG1_ENST00000370072.3_Splice_Site|NTNG1_ENST00000370065.1_Splice_Site|NTNG1_ENST00000370074.4_Splice_Site|NTNG1_ENST00000370067.1_Splice_Site			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTCTTCCATAGGGCAATCCCT	0.453																																																	0													251.0	256.0	254.0					1																	107866903		2203	4300	6503	SO:0001630	splice_region_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.247-1G>T	1.37:g.107866903G>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	-	e2-1	ENST00000370068.1	37	c.247-1	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998040	0.74818	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5413	0.95275	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTNG1	107668426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	.	NTNG1	-	-		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	G	NM_014917	Intron	107866903	+1	no_errors	ENST00000370068	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NUGGC	389643	genome.wustl.edu	37	8	27884506	27884506	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr8:27884506C>A	ENST00000413272.2	-	18	2360	c.2218G>T	c.(2218-2220)Ggg>Tgg	p.G740W	NUGGC_ENST00000341513.6_Missense_Mutation_p.G740W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	740					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGGCCATCCCCCTGGGACGAA	0.517																																																	0													163.0	162.0	162.0					8																	27884506		1977	4157	6134	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2218G>T	8.37:g.27884506C>A	ENSP00000408697:p.Gly740Trp		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.G740W	ENST00000413272.2	37	c.2218	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979947	0.34942	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.14893	2.47;2.48	5.8	3.0	0.34707	.	0.270394	0.29145	N	0.013014	T	0.17408	0.0418	N	0.24115	0.695	0.29121	N	0.880228	D	0.63880	0.993	P	0.55923	0.787	T	0.02491	-1.1151	10	0.87932	D	0	-21.6161	5.5202	0.16927	0.1749:0.6842:0.0:0.1409	.	740	Q68CJ6	SLIP_HUMAN	W	740	ENSP00000408697:G740W;ENSP00000345031:G740W	ENSP00000345031:G740W	G	-	1	0	C8orf80	27940425	0.606000	0.26949	0.893000	0.35052	0.761000	0.43186	1.248000	0.32827	1.441000	0.47550	0.655000	0.94253	GGG	NUGGC	-	NULL		0.517	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27884506	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.642	A
ODAM	54959	genome.wustl.edu	37	4	71063753	71063753	+	Missense_Mutation	SNP	G	G	T	rs376525673		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:71063753G>T	ENST00000396094.2	+	4	302	c.254G>T	c.(253-255)gGa>gTa	p.G85V		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	85	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAGTTTGCTGGACTGCTCCCA	0.502																																																	0													192.0	190.0	190.0					4																	71063753		1889	4117	6006	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.254G>T	4.37:g.71063753G>T	ENSP00000379401:p.Gly85Val		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.G85V	ENST00000396094.2	37	c.254	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362483	0.24684	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.51817	0.69;0.69	4.79	3.94	0.45596	.	.	.	.	.	T	0.57829	0.2080	L	0.55481	1.735	0.09310	N	0.999996	D	0.61080	0.989	P	0.61722	0.893	T	0.46816	-0.9164	9	0.66056	D	0.02	-7.7334	8.5601	0.33505	0.1045:0.0:0.8955:0.0	.	85	A1E959	ODAM_HUMAN	V	85;71;38	ENSP00000379401:G85V;ENSP00000426106:G38V	ENSP00000379401:G85V	G	+	2	0	ODAM	71098342	0.018000	0.18449	0.014000	0.15608	0.011000	0.07611	1.900000	0.39828	1.235000	0.43724	0.561000	0.74099	GGA	ODAM	-	NULL		0.502	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	G	NM_017855		71063753	+1	no_errors	ENST00000396094	ensembl	human	known	70_37	missense	SNP	0.019	T
OR6J1	79549	genome.wustl.edu	37	14	23103083	23103083	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr14:23103083G>T	ENST00000540461.1	-	1	633	c.634C>A	c.(634-636)Ctc>Atc	p.L212I				Q8NGC5	OR6J1_HUMAN	olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TAGGCCACGAGGACTATGCAG	0.512																																																	0																																										SO:0001583	missense	79549			AC023226		14q11.2	2012-08-09	2012-04-20	2004-03-10	ENSG00000255804	ENSG00000255804		"""GPCR / Class A : Olfactory receptors"""	14707	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily J, member 1"""	OR6J2, OR6J1P			Standard	NG_002274		Approved			Q8NGC5	OTTHUMG00000168897	ENST00000540461.1:c.634C>A	14.37:g.23103083G>T	ENSP00000437629:p.Leu212Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L212I	ENST00000540461.1	37	c.634		14	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309757	0.40895	.	.	ENSG00000255804	ENST00000540461	T	0.36878	1.23	5.06	1.96	0.26148	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25187	-1.0139	6	0.48119	T	0.1	.	4.3151	0.10990	0.0874:0.2142:0.5507:0.1476	.	.	.	.	I	212	ENSP00000437629:L212I	ENSP00000437629:L212I	L	-	1	0	OR6J1	22172923	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	-0.266000	0.08631	0.058000	0.16222	0.555000	0.69702	CTC	OR6J1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR6J1-001	KNOWN	basic|appris_principal	protein_coding	OR6J1	HGNC	protein_coding	OTTHUMT00000401548.1	G			23103083	-1	no_errors	ENST00000540461	ensembl	human	known	70_37	missense	SNP	0.029	T
OSBPL8	114882	genome.wustl.edu	37	12	76772318	76772318	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:76772318G>A	ENST00000261183.3	-	16	2122	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	OSBPL8_ENST00000393250.4_Missense_Mutation_p.S506F|OSBPL8_ENST00000393249.2_Missense_Mutation_p.S506F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	548					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TAATATTGCAGATAATGAGTT	0.294																																																	0													136.0	141.0	139.0					12																	76772318		2203	4297	6500	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1643C>T	12.37:g.76772318G>A	ENSP00000261183:p.Ser548Phe		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S548F	ENST00000261183.3	37	c.1643	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.088875	0.94100	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.99;0.992	T	0.74609	-0.3608	10	0.87932	D	0	-13.4751	20.3248	0.98698	0.0:0.0:1.0:0.0	.	523;548	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	506;548;533;506;548;548;523	ENSP00000376939:S506F;ENSP00000261183:S548F;ENSP00000376940:S506F;ENSP00000450238:S548F;ENSP00000447893:S523F	ENSP00000261183:S548F	S	-	2	0	OSBPL8	75296449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.818000	0.97014	0.655000	0.94253	TCT	OSBPL8	-	pfam_Oxysterol-bd		0.294	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	G	NM_020841		76772318	-1	no_errors	ENST00000261183	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE6C	5146	genome.wustl.edu	37	10	95400710	95400710	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:95400710G>A	ENST00000371447.3	+	14	1909	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	591					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CACAGATCTCGAAGCCTTTGC	0.348																																																	0													138.0	121.0	127.0					10																	95400710		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1771G>A	10.37:g.95400710G>A	ENSP00000360502:p.Glu591Lys		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E591K	ENST00000371447.3	37	c.1771	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815093	0.90790	.	.	ENSG00000095464	ENST00000371447	D	0.84223	-1.82	5.2	5.2	0.72013	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043921	0.85682	D	0.000000	D	0.93930	0.8057	H	0.94345	3.525	0.80722	D	1	D	0.67145	0.996	P	0.59825	0.864	D	0.95322	0.8421	10	0.87932	D	0	.	18.9274	0.92550	0.0:0.0:1.0:0.0	.	591	P51160	PDE6C_HUMAN	K	591	ENSP00000360502:E591K	ENSP00000360502:E591K	E	+	1	0	PDE6C	95390700	1.000000	0.71417	0.977000	0.42913	0.486000	0.33341	9.134000	0.94467	2.709000	0.92574	0.563000	0.77884	GAA	PDE6C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.348	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95400710	+1	no_errors	ENST00000371447	ensembl	human	known	70_37	missense	SNP	1.000	A
PIWIL2	55124	genome.wustl.edu	37	8	22171928	22171928	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr8:22171928C>A	ENST00000454009.2	+	17	2586	c.2077C>A	c.(2077-2079)Cca>Aca	p.P693T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.P693T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.P693T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	693	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGTGCAGTCCCCAGTGCCCTC	0.557																																																	0													94.0	74.0	81.0					8																	22171928		2203	4300	6503	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2077C>A	8.37:g.22171928C>A	ENSP00000406956:p.Pro693Thr		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P693T	ENST00000454009.2	37	c.2077	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617676	0.87359	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15139	2.45;2.45;2.45	5.92	5.92	0.95590	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.098209	0.64402	D	0.000001	T	0.53997	0.1831	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.985;0.995	T	0.63708	-0.6576	10	0.62326	D	0.03	-1.3849	17.2511	0.87042	0.0:1.0:0.0:0.0	.	693;693	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	693	ENSP00000349208:P693T;ENSP00000428267:P693T;ENSP00000406956:P693T	ENSP00000349208:P693T	P	+	1	0	PIWIL2	22227873	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	6.639000	0.74314	2.822000	0.97130	0.650000	0.86243	CCA	PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.557	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	C			22171928	+1	no_errors	ENST00000356766	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	22143074	22143074	+	Intron	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:22143074G>T	ENST00000382254.1	-	5	901				RP11-855C21.1_ENST00000524042.1_RNA|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Intron|PMCHL1_ENST00000418902.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCATTTAATTGCCAATGGGAG	0.358										HNSCC(59;0.17)																																							0																																										SO:0001627	intron_variant	5369			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.186-64103C>A	5.37:g.22143074G>T			B2RBT1|B7Z2U6|Q86UD2	RNA	SNP	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			PMCHL1	-	-		0.358	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCHL1	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		22143074	+1	no_errors	ENST00000418902	ensembl	human	known	70_37	rna	SNP	0.021	T
CDH12	1010	genome.wustl.edu	37	5	22144060	22144060	+	Intron	DEL	A	A	-			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:22144060delA	ENST00000382254.1	-	5	901				RP11-855C21.1_ENST00000524042.1_RNA|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Intron|PMCHL1_ENST00000418902.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTGCCACTTAAAAAAAAAAA	0.289										HNSCC(59;0.17)																																							0																																										SO:0001627	intron_variant	5369			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.186-65089T>-	5.37:g.22144060delA			B2RBT1|B7Z2U6|Q86UD2	RNA	DEL	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			PMCHL1	-	-		0.289	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCHL1	HGNC	protein_coding	OTTHUMT00000207139.1	A	NM_004061		22144060	+1	no_errors	ENST00000418902	ensembl	human	known	70_37	rna	DEL	0.004	-
PROM1	8842	genome.wustl.edu	37	4	15995625	15995625	+	Missense_Mutation	SNP	A	A	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:15995625A>T	ENST00000510224.1	-	16	2000	c.1752T>A	c.(1750-1752)caT>caA	p.H584Q	PROM1_ENST00000505450.1_Missense_Mutation_p.H575Q|PROM1_ENST00000447510.2_Missense_Mutation_p.H584Q|PROM1_ENST00000539194.1_Missense_Mutation_p.H584Q|PROM1_ENST00000540805.1_Missense_Mutation_p.H584Q|PROM1_ENST00000508167.1_Missense_Mutation_p.H575Q|PROM1_ENST00000543373.1_Missense_Mutation_p.H575Q			O43490	PROM1_HUMAN	prominin 1	584					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TAATGTTGAGATGTTCACTGA	0.388																																																	0													226.0	223.0	224.0					4																	15995625		1909	4131	6040	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1752T>A	4.37:g.15995625A>T	ENSP00000426809:p.His584Gln		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.H584Q	ENST00000510224.1	37	c.1752	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	A	7.823	0.718097	0.15372	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.98	-6.9	0.01655	.	0.775970	0.13248	N	0.402337	T	0.21509	0.0518	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.002	B;B;B;B;B;B	0.11329	0.004;0.004;0.004;0.004;0.002;0.006	T	0.13361	-1.0512	10	0.28530	T	0.3	-24.0257	12.2269	0.54465	0.2846:0.6107:0.0:0.1046	.	575;584;575;584;575;584	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	Q	584;584;584;575;575;584;575	ENSP00000415481:H584Q;ENSP00000438045:H584Q;ENSP00000443620:H584Q;ENSP00000426090:H575Q;ENSP00000427346:H575Q;ENSP00000426809:H584Q;ENSP00000445526:H575Q	ENSP00000415481:H584Q	H	-	3	2	PROM1	15604723	0.102000	0.21896	0.001000	0.08648	0.001000	0.01503	0.467000	0.22035	-1.299000	0.02344	-1.523000	0.00931	CAT	PROM1	-	pfam_Prominin		0.388	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	A	NM_006017		15995625	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	missense	SNP	0.018	T
PRDM5	11107	genome.wustl.edu	37	4	121702439	121702439	+	Silent	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:121702439G>A	ENST00000264808.3	-	12	1542	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PRDM5_ENST00000428209.2_Silent_p.C403C|PRDM5_ENST00000515109.1_Silent_p.C403C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	434					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCAGTGATGGCACTTGAAAG	0.393																																																	0													94.0	77.0	83.0					4																	121702439		2203	4300	6503	SO:0001819	synonymous_variant	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1302C>T	4.37:g.121702439G>A			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.C434	ENST00000264808.3	37	c.1302	CCDS3716.1	4																																																																																			PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121702439	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	silent	SNP	0.993	A
PTPRC	5788	genome.wustl.edu	37	1	198713197	198713197	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:198713197G>T	ENST00000367376.2	+	26	2877	c.2706G>T	c.(2704-2706)ttG>ttT	p.L902F	PTPRC_ENST00000352140.3_Missense_Mutation_p.L854F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L741F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L904F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L743F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	902	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACATCTTGATCCATCAGG	0.343																																																	0													113.0	109.0	110.0					1																	198713197		2202	4300	6502	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2706G>T	1.37:g.198713197G>T	ENSP00000356346:p.Leu902Phe		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L904F	ENST00000367376.2	37	c.2712		1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069105	0.55539	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.07800	3.16	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.361502	0.19372	N	0.115896	T	0.07413	0.0187	N	0.00855	-1.145	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.987;0.987;0.993	T	0.58880	-0.7558	10	0.26408	T	0.33	.	11.4151	0.49947	0.0:0.1261:0.7274:0.1465	.	743;854;902	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	904;854;902;741	ENSP00000193532:L854F	ENSP00000306782:L741F	L	+	3	2	PTPRC	196979820	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.359000	0.44142	2.733000	0.93635	0.650000	0.86243	TTG	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.343	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G			198713197	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	T
RABGAP1	23637	genome.wustl.edu	37	9	125860125	125860125	+	Splice_Site	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:125860125G>T	ENST00000373647.4	+	22	2867		c.e22+1		RABGAP1_ENST00000373643.5_Splice_Site	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTCTGCTCAGGTAAGGGAACT	0.478																																																	0													91.0	88.0	89.0					9																	125860125		2203	4300	6503	SO:0001630	splice_region_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2733+1G>T	9.37:g.125860125G>T			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Splice_Site	SNP	-	e21+1	ENST00000373647.4	37	c.2733+1	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132243	0.77662	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8179	0.92085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1	124899946	1.000000	0.71417	0.997000	0.53966	0.732000	0.41865	9.506000	0.97992	2.687000	0.91594	0.561000	0.74099	.	RABGAP1	-	-		0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	G	NM_012197	Intron	125860125	+1	no_errors	ENST00000373647	ensembl	human	known	70_37	splice_site	SNP	1.000	T
RAET1E	135250	genome.wustl.edu	37	6	150205624	150205624	+	Nonstop_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:150205624C>A	ENST00000532335.1	-	5	985	c.639G>T	c.(637-639)taG>taT	p.*213Y	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	0					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGTATCACCTCTAGGTGGATC	0.562																																																	0																																										SO:0001578	stop_lost	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000532335.1:c.639G>T	6.37:g.150205624C>A			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Nonstop_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.*213Y	ENST00000532335.1	37	c.639	CCDS59043.1	6	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.866056	0.00547	.	.	ENSG00000164520	ENST00000532335	.	.	.	0.926	-0.013	0.13986	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2761	0.06898	0.0:0.6852:0.0:0.3148	.	.	.	.	Y	213	.	.	X	-	3	2	RAET1E	150247317	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.618000	0.05578	-0.041000	0.13558	0.430000	0.28490	TAG	RAET1E	-	NULL		0.562	RAET1E-003	KNOWN	basic|CCDS	protein_coding	RAET1E	HGNC	protein_coding	OTTHUMT00000384020.1	C	NM_139165		150205624	-1	no_errors	ENST00000532335	ensembl	human	known	70_37	nonstop	SNP	0.001	A
RIC3	79608	genome.wustl.edu	37	11	8159966	8159967	+	Intron	INS	-	-	A	rs79339332|rs78612783		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:8159966_8159967insA	ENST00000309737.6	-	3	351				RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCATATCAAACAAAAAAAAAAG	0.381																																																	0																																										SO:0001627	intron_variant	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.352-72->T	11.37:g.8159976_8159976dupA			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	INS	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-		0.381	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	-	NM_024557		8159967	-1	no_errors	ENST00000524799	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
RNF157	114804	genome.wustl.edu	37	17	74158698	74158698	+	Missense_Mutation	SNP	C	C	A	rs570180754		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:74158698C>A	ENST00000269391.6	-	9	859	c.727G>T	c.(727-729)Ggg>Tgg	p.G243W	RNF157_ENST00000319945.6_Missense_Mutation_p.G243W	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	243							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TAGCTGACCCCGTCTACCTGA	0.428																																					GBM(186;507 2120 27388 27773 52994)												0													98.0	84.0	89.0					17																	74158698		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.727G>T	17.37:g.74158698C>A	ENSP00000269391:p.Gly243Trp		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G243W	ENST00000269391.6	37	c.727	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459511	0.84317	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.32272	1.46;1.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68652	-0.5352	10	0.87932	D	0	-14.0309	19.3121	0.94192	0.0:1.0:0.0:0.0	.	243;243	Q96PX1-2;Q96PX1	.;RN157_HUMAN	W	243;243;205	ENSP00000269391:G243W;ENSP00000321837:G243W	ENSP00000269391:G243W	G	-	1	0	RNF157	71670293	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	3.944000	0.56629	2.544000	0.85801	0.655000	0.94253	GGG	RNF157	-	NULL		0.428	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74158698	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77147203	77147203	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:77147203G>T	ENST00000461745.1	+	2	1000	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V34L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V50L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	34	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCGCGGATTGTGGAGCATCC	0.527																																																	0													47.0	49.0	49.0					3																	77147203		1945	4136	6081	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.100G>T	3.37:g.77147203G>T	ENSP00000417164:p.Val34Leu		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V34L	ENST00000461745.1	37	c.100	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346768	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.38077	1.16;1.16;1.16	5.12	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	U	0.003614	T	0.29716	0.0742	N	0.17922	0.545	0.27574	N	0.94981	B;B;B	0.28933	0.065;0.228;0.065	B;B;B	0.32980	0.116;0.156;0.148	T	0.24154	-1.0168	9	0.32370	T	0.25	.	18.541	0.91027	0.0:0.0:1.0:0.0	.	50;34;34	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	50;50;50;34;34	ENSP00000417335:V50L;ENSP00000417164:V34L;ENSP00000327536:V34L	ENSP00000327536:V34L	V	+	1	0	ROBO2	77229893	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	8.023000	0.88764	2.360000	0.80028	0.655000	0.94253	GTG	ROBO2	-	pfam_Ig_I-set,pfscan_Ig-like		0.527	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246		77147203	+1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC23	10233	genome.wustl.edu	37	12	6993598	6993598	+	Intron	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:6993598G>A	ENST00000433346.1	+	2	429				LRRC23_ENST00000449039.1_Intron|RPL13P5_ENST00000412023.1_RNA|DSTNP2_ENST00000602547.1_RNA|SPSB2_ENST00000437851.1_Intron			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATACTCAGCTGACAGGACCAG	0.532																																																	0																																										SO:0001627	intron_variant	283345			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000433346.1:c.-50+515G>A	12.37:g.6993598G>A			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	RNA	SNP	-	NULL	ENST00000433346.1	37	NULL		12																																																																																			RPL13P5	-	-		0.532	LRRC23-011	PUTATIVE	basic	protein_coding	RPL13P5	HGNC	protein_coding	OTTHUMT00000345224.1	G	NM_006992		6993598	+1	no_errors	ENST00000412023	ensembl	human	known	70_37	rna	SNP	0.999	A
RPS10P7	376693	genome.wustl.edu	37	1	201489719	201489719	+	lincRNA	DEL	A	A	-			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:201489719delA	ENST00000441932.1	+	0	1889				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		ACTTACAGTCAAAAAAAaaaa	0.423																																																	0																																												376693					1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489719delA				RNA	DEL	-	NULL	ENST00000441932.1	37	NULL		1																																																																																			RPS10P7	-	-		0.423	RPS10P7-001	KNOWN	basic	lincRNA	RPS10P7	HGNC	lincRNA	OTTHUMT00000087024.1	A	NR_026667		201489719	+1	no_errors	ENST00000441932	ensembl	human	known	70_37	rna	DEL	0.056	-
RTF1	23168	genome.wustl.edu	37	15	41745177	41745177	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr15:41745177G>T	ENST00000389629.4	+	3	400	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	130					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGAAACAGGCCAACAAAAC	0.448																																																	0													82.0	76.0	78.0					15																	41745177		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.388G>T	15.37:g.41745177G>T	ENSP00000374280:p.Ala130Ser		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.A130S	ENST00000389629.4	37	c.388	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880967	0.17467	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.66	1.53	0.23141	.	0.545685	0.22228	N	0.062859	T	0.19485	0.0468	N	0.19112	0.55	0.31200	N	0.69989	B	0.13594	0.008	B	0.14578	0.011	T	0.18178	-1.0345	9	0.07990	T	0.79	-1.6533	4.4149	0.11452	0.3214:0.0:0.5206:0.158	.	130	Q92541	RTF1_HUMAN	S	130	.	ENSP00000374280:A130S	A	+	1	0	RTF1	39532469	0.583000	0.26757	0.989000	0.46669	0.999000	0.98932	0.717000	0.25851	0.877000	0.35895	0.655000	0.94253	GCC	RTF1	-	NULL		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41745177	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	0.953	T
RYR2	6262	genome.wustl.edu	37	1	237819136	237819136	+	Missense_Mutation	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:237819136C>T	ENST00000366574.2	+	53	8298	c.7981C>T	c.(7981-7983)Ctt>Ttt	p.L2661F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2645F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2659F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2661	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAACAAGAACTTTTCAAACT	0.418																																																	0													33.0	32.0	32.0					1																	237819136		1820	4083	5903	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7981C>T	1.37:g.237819136C>T	ENSP00000355533:p.Leu2661Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L2659F	ENST00000366574.2	37	c.7975	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330566	0.81690	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95622	-3.76;-3.76;-3.76	5.65	4.72	0.59763	.	0.000000	0.50627	D	0.000101	D	0.97666	0.9235	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.97915	1.0311	10	0.87932	D	0	-12.0582	15.5106	0.75779	0.0:0.9303:0.0:0.0697	.	2661	Q92736	RYR2_HUMAN	F	2661;2659;2645	ENSP00000355533:L2661F;ENSP00000353174:L2659F;ENSP00000443798:L2645F	ENSP00000353174:L2659F	L	+	1	0	RYR2	235885759	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.253000	0.51469	2.826000	0.97356	0.563000	0.77884	CTT	RYR2	-	NULL		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237819136	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T
SHISA6	388336	genome.wustl.edu	37	17	11144958	11144958	+	Silent	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:11144958G>A	ENST00000409168.3	+	1	219	c.219G>A	c.(217-219)cgG>cgA	p.R73R	SHISA6_ENST00000441885.3_Silent_p.R73R|SHISA6_ENST00000432116.3_Silent_p.R73R	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	73	Ala-rich.					alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						CGGGAAgccggcgggggcagc	0.796																																																	0													3.0	4.0	4.0					17																	11144958		120	522	642	SO:0001819	synonymous_variant	388336			AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.219G>A	17.37:g.11144958G>A			B3KXV5|Q4PL63	Silent	SNP	NULL	p.R73	ENST00000409168.3	37	c.219	CCDS54090.1	17																																																																																			SHISA6	-	NULL		0.796	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHISA6	HGNC	protein_coding	OTTHUMT00000333970.2	G	NM_207386		11144958	+1	no_errors	ENST00000441885	ensembl	human	known	70_37	silent	SNP	0.943	A
SLC30A3	7781	genome.wustl.edu	37	2	27485720	27485720	+	Frame_Shift_Del	DEL	G	G	-	rs149400133		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:27485720delG	ENST00000233535.4	-	1	407	c.55delC	c.(55-57)cggfs	p.R19fs	SLC30A3_ENST00000447008.2_Intron	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	19					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCGGTCCCGGGGGCTCACC	0.711																																																	0													13.0	16.0	15.0					2																	27485720		2182	4272	6454	SO:0001589	frameshift_variant	7781			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.55delC	2.37:g.27485720delG	ENSP00000233535:p.Arg19fs		Q8TC03	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.R19fs	ENST00000233535.4	37	c.55	CCDS1743.1	2																																																																																			SLC30A3	-	NULL		0.711	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	G			27485720	-1	no_errors	ENST00000233535	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SNAP91	9892	genome.wustl.edu	37	6	84270627	84270627	+	Missense_Mutation	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:84270627C>T	ENST00000439399.2	-	27	2798	c.2482G>A	c.(2482-2484)Gcc>Acc	p.A828T	SNAP91_ENST00000520213.1_Missense_Mutation_p.A521T|SNAP91_ENST00000521485.1_Missense_Mutation_p.A823T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A798T|SNAP91_ENST00000521743.1_Missense_Mutation_p.A828T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A823T|SNAP91_ENST00000428679.2_Missense_Mutation_p.A828T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A828T|SNAP91_ENST00000437520.1_Missense_Mutation_p.A521T	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	828	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGGCCCCGGCAACAGGAGGA	0.428																																																	0													44.0	44.0	44.0					6																	84270627		1943	4149	6092	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2482G>A	6.37:g.84270627C>T	ENSP00000400459:p.Ala828Thr		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A828T	ENST00000439399.2	37	c.2482	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	2.482	-0.319444	0.05386	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.25085	2.36;2.36;2.36;2.36;2.39;2.39;2.37;2.36;2.39;1.82	5.46	0.507	0.16967	.	0.569167	0.19433	N	0.114369	T	0.09202	0.0227	N	0.25890	0.77	0.09310	N	1	B;D;B;B;B	0.56968	0.001;0.978;0.0;0.0;0.0	B;P;B;B;B	0.53722	0.001;0.733;0.002;0.001;0.001	T	0.08932	-1.0698	10	0.39692	T	0.17	-2.3691	2.5176	0.04672	0.1183:0.4484:0.2303:0.2031	.	704;521;798;828;826	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	T	823;828;828;823;828;521;798;828;521;169	ENSP00000429776:A823T;ENSP00000358708:A828T;ENSP00000400459:A828T;ENSP00000195649:A823T;ENSP00000412492:A828T;ENSP00000413277:A521T;ENSP00000428511:A798T;ENSP00000428215:A828T;ENSP00000428026:A521T;ENSP00000430255:A169T	ENSP00000195649:A823T	A	-	1	0	SNAP91	84327346	0.129000	0.22400	0.150000	0.22450	0.039000	0.13416	0.655000	0.24933	0.001000	0.14605	-1.293000	0.01348	GCC	SNAP91	-	NULL		0.428	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84270627	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.037	T
SNX18	112574	genome.wustl.edu	37	5	53815271	53815271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:53815271G>T	ENST00000326277.3	+	1	1679	c.1489G>T	c.(1489-1491)Gga>Tga	p.G497*	SNX18_ENST00000381410.4_Nonsense_Mutation_p.G497*|SNX18_ENST00000343017.6_Nonsense_Mutation_p.G497*	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	497	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGCCTTCACCGGAGATGCCTA	0.627																																																	0													59.0	58.0	58.0					5																	53815271		2203	4300	6503	SO:0001587	stop_gained	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1489G>T	5.37:g.53815271G>T	ENSP00000317332:p.Gly497*		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Nonsense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.G497*	ENST00000326277.3	37	c.1489	CCDS3962.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.120323	0.98665	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	.	.	.	5.24	5.24	0.73138	.	0.127061	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6731	19.0331	0.92965	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000317332:G497X	G	+	1	0	SNX18	53851028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.724000	0.93272	0.561000	0.74099	GGA	SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	G			53815271	+1	no_errors	ENST00000326277	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SNX8	29886	genome.wustl.edu	37	7	2317747	2317747	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:2317747C>A	ENST00000222990.3	-	2	330	c.288G>T	c.(286-288)gaG>gaT	p.E96D		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCTGGAAACCTCATACTCCA	0.582																																																	0													95.0	85.0	89.0					7																	2317747		2203	4300	6503	SO:0001583	missense	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.288G>T	7.37:g.2317747C>A	ENSP00000222990:p.Glu96Asp		A4D207|Q96I67	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E96D	ENST00000222990.3	37	c.288	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708416	0.48517	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336;ENST00000447136	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.16	2.99	0.34606	Phox homologous domain (5);	0.125508	0.53938	D	0.000045	T	0.47322	0.1439	M	0.79011	2.435	0.40166	D	0.977128	P	0.42010	0.768	P	0.45538	0.484	T	0.48007	-0.9072	10	0.30854	T	0.27	.	10.3959	0.44201	0.0:0.7026:0.0:0.2974	.	96	Q9Y5X2	SNX8_HUMAN	D	96;82;43;43;43	ENSP00000222990:E96D;ENSP00000392437:E82D;ENSP00000406954:E43D;ENSP00000406212:E43D;ENSP00000403608:E43D	ENSP00000222990:E96D	E	-	3	2	SNX8	2284273	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.778000	0.38614	1.163000	0.42636	0.655000	0.94253	GAG	SNX8	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.582	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	HGNC	protein_coding	OTTHUMT00000322949.2	C			2317747	-1	no_errors	ENST00000222990	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTY2D1	144108	genome.wustl.edu	37	11	18636763	18636763	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:18636763G>T	ENST00000336349.5	-	3	1293	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	353	Ser-rich.							p.P353L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATGGGCCCAGGCCTGGAATG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											112.0	122.0	118.0					11																	18636763		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1058C>A	11.37:g.18636763G>T	ENSP00000337991:p.Pro353His		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P353H	ENST00000336349.5	37	c.1058	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868119	0.51588	.	.	ENSG00000179119	ENST00000336349	T	0.24350	1.86	5.84	5.84	0.93424	.	0.344807	0.31123	N	0.008211	T	0.32496	0.0831	L	0.34521	1.04	0.37248	D	0.906411	D	0.58620	0.983	P	0.54499	0.754	T	0.15150	-1.0447	10	0.72032	D	0.01	-5.7793	13.3441	0.60561	0.0721:0.0:0.9279:0.0	.	353	Q68D10	SPT2_HUMAN	H	353	ENSP00000337991:P353H	ENSP00000337991:P353H	P	-	2	0	SPTY2D1	18593339	0.553000	0.26513	1.000000	0.80357	0.777000	0.43975	1.392000	0.34486	2.762000	0.94881	0.563000	0.77884	CCT	SPTY2D1	-	NULL		0.557	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636763	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	1.000	T
TBC1D25	4943	genome.wustl.edu	37	X	48419230	48419230	+	Missense_Mutation	SNP	T	T	G			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:48419230T>G	ENST00000376771.4	+	6	2275	c.1934T>G	c.(1933-1935)aTg>aGg	p.M645R	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.M391R	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	645					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGCTGGCCATGCACTTTGAC	0.602																																																	0													65.0	55.0	59.0					X																	48419230		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1934T>G	X.37:g.48419230T>G	ENSP00000365962:p.Met645Arg		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M645R	ENST00000376771.4	37	c.1934	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064799	0.55432	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21734	1.99;1.99	5.05	5.05	0.67936	Rab-GAP/TBC domain (1);	0.550776	0.20730	N	0.086740	T	0.44726	0.1307	M	0.73962	2.25	0.49130	D	0.999751	D;D;D	0.61697	0.99;0.99;0.99	D;D;D	0.69142	0.962;0.962;0.962	T	0.43814	-0.9368	10	0.87932	D	0	-15.5816	11.7843	0.52032	0.0:0.0:0.0:1.0	.	649;587;645	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	R	645;391	ENSP00000365962:M645R;ENSP00000444091:M391R	ENSP00000365962:M645R	M	+	2	0	TBC1D25	48304174	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.434000	0.80377	1.684000	0.51022	0.356000	0.21956	ATG	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.602	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48419230	+1	no_errors	ENST00000376771	ensembl	human	known	70_37	missense	SNP	1.000	G
TMC6	11322	genome.wustl.edu	37	17	76115098	76115098	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:76115098G>T	ENST00000590602.1	-	15	2000	c.1841C>A	c.(1840-1842)cCc>cAc	p.P614H	TMC6_ENST00000392467.3_Missense_Mutation_p.P614H|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.P193H|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.P193H|TMC6_ENST00000322914.3_Missense_Mutation_p.P614H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	614					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)			CTGCACGGCGGGGAGGAGGGG	0.677																																																	0													19.0	17.0	18.0					17																	76115098		2198	4297	6495	SO:0001583	missense	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.1841C>A	17.37:g.76115098G>T	ENSP00000465261:p.Pro614His		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.P614H	ENST00000590602.1	37	c.1841	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274424	0.80580	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933;ENST00000392466	T;T;T	0.67523	-0.27;-0.27;-0.27	4.58	4.58	0.56647	.	0.059487	0.64402	D	0.000002	D	0.86838	0.6029	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91082	0.4900	10	0.72032	D	0.01	-16.6397	17.3433	0.87303	0.0:0.0:1.0:0.0	.	614;193	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	H	614;614;193;80	ENSP00000313408:P614H;ENSP00000376260:P614H;ENSP00000313479:P193H	ENSP00000313408:P614H	P	-	2	0	TMC6	73626693	1.000000	0.71417	0.965000	0.40720	0.654000	0.38779	8.784000	0.91818	2.079000	0.62486	0.561000	0.74099	CCC	TMC6	-	pfam_TMC		0.677	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76115098	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM38A	79041	genome.wustl.edu	37	19	16790905	16790905	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:16790905G>T	ENST00000187762.2	+	2	326	c.235G>T	c.(235-237)Gat>Tat	p.D79Y		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCACTGATCGATTACTTCAG	0.607																																																	0													61.0	50.0	53.0					19																	16790905		2203	4300	6503	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.235G>T	19.37:g.16790905G>T	ENSP00000187762:p.Asp79Tyr		A8K9P9	Missense_Mutation	SNP	pfam_TRIC_channel	p.D79Y	ENST00000187762.2	37	c.235	CCDS12349.1	19	.	.	.	.	.	.	.	.	.	.	g	17.27	3.347143	0.61183	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.61	4.57	0.56435	.	0.151060	0.56097	D	0.000021	T	0.49236	0.1545	L	0.47716	1.5	0.50313	D	0.999868	P	0.47484	0.896	P	0.46320	0.512	T	0.51204	-0.8735	9	0.59425	D	0.04	-36.5837	9.7697	0.40582	0.074:0.2427:0.6833:0.0	.	79	Q9H6F2	TM38A_HUMAN	Y	79	.	ENSP00000187762:D79Y	D	+	1	0	TMEM38A	16651905	1.000000	0.71417	0.983000	0.44433	0.821000	0.46438	5.128000	0.64733	2.656000	0.90262	0.561000	0.74099	GAT	TMEM38A	-	pfam_TRIC_channel		0.607	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38A	HGNC	protein_coding	OTTHUMT00000462841.1	G	NM_024074		16790905	+1	no_errors	ENST00000187762	ensembl	human	known	70_37	missense	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218750487	218750487	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:218750487G>T	ENST00000171887.4	-	13	1173	c.721C>A	c.(721-723)Ctc>Atc	p.L241I	TNS1_ENST00000430930.1_Missense_Mutation_p.L241I|TNS1_ENST00000310858.6_Missense_Mutation_p.L272I|TNS1_ENST00000419504.1_Missense_Mutation_p.L241I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCTTCAAGAGCAGTCCTGGC	0.532																																																	0													155.0	134.0	141.0					2																	218750487		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.721C>A	2.37:g.218750487G>T	ENSP00000171887:p.Leu241Ile		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L241I	ENST00000171887.4	37	c.721	CCDS2407.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.613326|3.613326	0.66672|0.66672	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.85258	.|-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.77|4.77	3.89|3.89	0.44902|0.44902	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88209|0.88209	0.6375|0.6375	L|L	0.46741|0.46741	1.465|1.465	0.51482|0.51482	D|D	0.999922|0.999922	.|D;B;D;D;D;D	.|0.76494	.|0.999;0.382;0.999;0.999;0.999;0.999	.|D;P;D;D;D;D	.|0.91635	.|0.963;0.53;0.994;0.999;0.994;0.998	D|D	0.87699|0.87699	0.2559|0.2559	5|10	.|0.62326	.|D	.|0.03	.|.	9.3491|9.3491	0.38126|0.38126	0.1663:0.0:0.8337:0.0|0.1663:0.0:0.8337:0.0	.|.	.|241;295;272;241;241;241	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	D|I	16|241;241;241;366;309;272	.|ENSP00000171887:L241I;ENSP00000408724:L241I;ENSP00000406016:L241I;ENSP00000405460:L366I;ENSP00000400383:L309I;ENSP00000308321:L272I	.|ENSP00000171887:L241I	A|L	-|-	2|1	0|0	TNS1|TNS1	218458732|218458732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	6.461000|6.461000	0.73522|0.73522	1.218000|1.218000	0.43458|0.43458	0.462000|0.462000	0.41574|0.41574	GCT|CTC	TNS1	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.532	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218750487	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	T
TRAF7	84231	genome.wustl.edu	37	16	2225135	2225135	+	Missense_Mutation	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:2225135C>T	ENST00000326181.6	+	15	1502	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	457					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A457V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGCGGCTCTGCAGACTGCACC	0.647																																																	1	Substitution - Missense(1)	lung(1)											113.0	108.0	110.0					16																	2225135		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1370C>T	16.37:g.2225135C>T	ENSP00000318944:p.Ala457Val		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A457V	ENST00000326181.6	37	c.1370	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.307724	0.95629	.	.	ENSG00000131653	ENST00000326181	T	0.43688	0.94	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.21617	0.685	0.80722	D	1	B	0.27823	0.19	B	0.28011	0.085	T	0.10706	-1.0618	10	0.42905	T	0.14	-16.9669	17.9567	0.89072	0.0:1.0:0.0:0.0	.	457	Q6Q0C0	TRAF7_HUMAN	V	457	ENSP00000318944:A457V	ENSP00000318944:A457V	A	+	2	0	TRAF7	2165136	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.714000	0.84703	2.505000	0.84491	0.561000	0.74099	GCA	TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.647	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	C	NM_032271		2225135	+1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	T
TRHDE	29953	genome.wustl.edu	37	12	72666010	72666010	+	5'Flank	SNP	C	C	G			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:72666010C>G	ENST00000261180.4	+	0	0				TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCACCGCTCCCGTCCTTCTCC	0.682																																																	0													53.0	62.0	59.0					12																	72666010		692	1591	2283	SO:0001631	upstream_gene_variant	283392			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6			12.37:g.72666010C>G	Exception_encountered		A5PL19|Q6UWJ4	RNA	SNP	-	NULL	ENST00000261180.4	37	NULL	CCDS9004.1	12																																																																																			TRHDE-AS1	-	-		0.682	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE-AS1	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		72666010	-1	no_errors	ENST00000435350	ensembl	human	known	70_37	rna	SNP	0.000	G
TRIM5	85363	genome.wustl.edu	37	11	5686913	5686913	+	Splice_Site	SNP	C	C	G			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:5686913C>G	ENST00000380034.3	-	7	1125		c.e7-1		TRIM5_ENST00000396855.3_Splice_Site|TRIM5_ENST00000396847.3_Splice_Site|TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000380027.1_Splice_Site|TRIM5_ENST00000483835.1_Splice_Site|TRIM5_ENST00000396853.4_Splice_Site	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTGTCAGCTCTGAAATGATA	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													82.0	83.0	83.0					11																	5686913		2201	4295	6496	SO:0001630	splice_region_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.869-1G>C	11.37:g.5686913C>G		628	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Splice_Site	SNP	-	e6-1	ENST00000380034.3	37	c.869-1	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648654	0.29336	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000438025;ENST00000396853	.	.	.	3.89	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3502	0.26686	0.0:0.8811:0.0:0.1189	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM5	5643489	0.814000	0.29104	0.868000	0.34077	0.166000	0.22503	1.227000	0.32576	1.247000	0.43917	0.561000	0.74099	.	TRIM5	-	-		0.373	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	C	NM_033034	Intron	5686913	-1	no_errors	ENST00000305836	ensembl	human	known	70_37	splice_site	SNP	0.872	G
TRO	7216	genome.wustl.edu	37	X	54949050	54949050	+	Missense_Mutation	SNP	C	C	G			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:54949050C>G	ENST00000173898.7	+	3	197	c.85C>G	c.(85-87)Cct>Gct	p.P29A	TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.P29A|TRO_ENST00000375022.4_Missense_Mutation_p.P29A|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	29					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTCCCTTCCCTCCAGATAT	0.592																																																	0													40.0	39.0	39.0					X																	54949050		1915	4112	6027	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.85C>G	X.37:g.54949050C>G	ENSP00000173898:p.Pro29Ala		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P29A	ENST00000173898.7	37	c.85	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	C	1.552	-0.539060	0.04053	.	.	ENSG00000067445	ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000440759;ENST00000416704	T;T;T;T;T;T	0.44881	0.91;3.99;3.74;3.74;0.91;0.91	2.8	-0.881	0.10607	.	.	.	.	.	T	0.24890	0.0604	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.26876	0.162;0.162	B;B	0.28916	0.096;0.096	T	0.22208	-1.0223	9	0.40728	T	0.16	.	5.7918	0.18365	0.0:0.401:0.0:0.599	.	29;29	Q96SX2;Q12816	.;TROP_HUMAN	A	29	ENSP00000404645:P29A;ENSP00000173898:P29A;ENSP00000318278:P29A;ENSP00000364162:P29A;ENSP00000406574:P29A;ENSP00000404767:P29A	ENSP00000173898:P29A	P	+	1	0	TRO	54965775	0.996000	0.38824	0.016000	0.15963	0.133000	0.20885	0.386000	0.20702	-0.355000	0.08199	0.506000	0.49869	CCT	TRO	-	NULL		0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54949050	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.013	G
TTN	7273	genome.wustl.edu	37	2	179441279	179441279	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:179441279G>T	ENST00000591111.1	-	275	64993	c.64769C>A	c.(64768-64770)tCt>tAt	p.S21590Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14291Y|TTN_ENST00000460472.2_Missense_Mutation_p.S14166Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20663Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S23231Y|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14358Y			Q8WZ42	TITIN_HUMAN	titin	21590	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAGAACAGAATCTGAAGC	0.423																																																	0													135.0	132.0	133.0					2																	179441279		1928	4133	6061	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64769C>A	2.37:g.179441279G>T	ENSP00000465570:p.Ser21590Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S20663Y	ENST00000591111.1	37	c.61988		2	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506686	0.26949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.72	2.73	0.32206	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43523	0.1251	L	0.58510	1.815	0.23519	N	0.997506	B;B;B;B	0.15473	0.0;0.0;0.0;0.013	B;B;B;B	0.17979	0.0;0.0;0.0;0.02	T	0.42413	-0.9453	9	0.87932	D	0	.	8.1949	0.31389	0.1452:0.0:0.7297:0.1251	.	14166;14291;14358;21590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	20663;14166;14358;14291;14164	ENSP00000343764:S20663Y;ENSP00000434586:S14166Y;ENSP00000340554:S14358Y;ENSP00000352154:S14291Y	ENSP00000340554:S14358Y	S	-	2	0	TTN	179149525	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	2.707000	0.47143	0.338000	0.23692	0.655000	0.94253	TCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179441279	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179528588	179528588	+	Intron	SNP	G	G	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:179528588G>C	ENST00000591111.1	-	154	34489				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P12136A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGCCAAGGGCACTTTCTCT	0.403																																																	0													315.0	291.0	298.0					2																	179528588		876	1991	2867	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5067C>G	2.37:g.179528588G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P12136A	ENST00000591111.1	37	c.36406		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.269242|1.269242	0.23221|0.23221	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000425332|ENST00000541862;ENST00000392423	.|.	.|.	.|.	4.73|4.73	-1.21|-1.21	0.09524|0.09524	.|.	.|.	.|.	.|.	.|.	T|T	0.18635|0.18635	0.0447|0.0447	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.18461	.|0.028	.|B	.|0.14023	.|0.01	T|T	0.21690|0.21690	-1.0238|-1.0238	4|7	.|0.26408	.|T	.|0.33	.|.	3.0599|3.0599	0.06196|0.06196	0.1377:0.1043:0.3009:0.4571|0.1377:0.1043:0.3009:0.4571	.|.	.|410	.|Q71S18	.|.	W|A	199|410;262	.|.	.|ENSP00000376219:P262A	C|P	-|-	3|1	2|0	TTN|TTN	179236833|179236833	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.034000|0.034000	0.12701|0.12701	0.461000|0.461000	0.21940|0.21940	-0.508000|-0.508000	0.06540|0.06540	-0.309000|-0.309000	0.09137|0.09137	TGC|CCC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179528588	-1	no_errors	ENST00000589042	ensembl	human	putative	70_37	missense	SNP	0.000	C
UBAP2L	9898	genome.wustl.edu	37	1	154223747	154223747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:154223747C>T	ENST00000361546.2	+	12	1486	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q482*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q493*|UBAP2L_ENST00000428931.1_Nonsense_Mutation_p.Q482*			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	482			Q -> H (in dbSNP:rs17849745).		binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGCCGGCTCAGCAGAAACT	0.498																																																	0													62.0	67.0	65.0					1																	154223747		2203	4300	6503	SO:0001587	stop_gained	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1444C>T	1.37:g.154223747C>T	ENSP00000355343:p.Gln482*		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Nonsense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q482*	ENST00000361546.2	37	c.1444	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.015258	0.97205	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.3027	18.891	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	482;482;493;482	.	ENSP00000271877:Q493X	Q	+	1	0	UBAP2L	152490371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.062000	0.76706	2.941000	0.99782	0.655000	0.94253	CAG	UBAP2L	-	NULL		0.498	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154223747	+1	no_errors	ENST00000361546	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UGT8	7368	genome.wustl.edu	37	4	115544657	115544657	+	Silent	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:115544657C>A	ENST00000310836.6	+	2	1143	c.621C>A	c.(619-621)gtC>gtA	p.V207V	UGT8_ENST00000394511.3_Silent_p.V207V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	207					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GATTAGGGGTCAGCTTTCTGG	0.453																																																	0													106.0	104.0	105.0					4																	115544657		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.621C>A	4.37:g.115544657C>A			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V207	ENST00000310836.6	37	c.621	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans		0.453	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	C	NM_003360		115544657	+1	no_errors	ENST00000310836	ensembl	human	known	70_37	silent	SNP	1.000	A
USP47	55031	genome.wustl.edu	37	11	11964023	11964023	+	Missense_Mutation	SNP	A	A	G			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:11964023A>G	ENST00000399455.2	+	21	2635	c.2515A>G	c.(2515-2517)Agg>Ggg	p.R839G	USP47_ENST00000339865.5_Missense_Mutation_p.R751G|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R819G	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	839					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R751W(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTCCAAAAGGACAGCATA	0.423																																																	1	Substitution - Missense(1)	lung(1)											90.0	83.0	85.0					11																	11964023		1853	4092	5945	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2515A>G	11.37:g.11964023A>G	ENSP00000382382:p.Arg839Gly		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R839G	ENST00000399455.2	37	c.2515		11	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625169	0.46840	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.04917	3.54;3.53;3.53	5.81	5.81	0.92471	.	0.085211	0.85682	D	0.000000	T	0.05868	0.0153	L	0.27053	0.805	0.80722	D	1	B;B;B	0.19817	0.039;0.016;0.027	B;B;B	0.18561	0.014;0.01;0.022	T	0.41395	-0.9511	10	0.32370	T	0.25	.	12.5775	0.56371	0.8617:0.1383:0.0:0.0	.	839;819;751	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	G	751;819;839;36	ENSP00000339957:R751G;ENSP00000433146:R819G;ENSP00000382382:R839G	ENSP00000339957:R751G	R	+	1	2	USP47	11920599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.217000	0.71921	0.482000	0.46254	AGG	USP47	-	NULL		0.423	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	A	NM_017944		11964023	+1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	G
UVRAG	7405	genome.wustl.edu	37	11	75672544	75672544	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:75672544G>A	ENST00000356136.3	+	7	891	c.650G>A	c.(649-651)gGa>gAa	p.G217E	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.G116E	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	217					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGAAAATTGGAAAGGAAATT	0.323																																																	0													101.0	109.0	106.0					11																	75672544		2200	4291	6491	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.650G>A	11.37:g.75672544G>A	ENSP00000348455:p.Gly217Glu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G217E	ENST00000356136.3	37	c.650	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659267	0.88154	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T;T	0.27402	1.67;1.67	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.48362	1.52	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.16188	-1.0411	10	0.02654	T	1	-16.5572	18.5326	0.90997	0.0:0.0:1.0:0.0	.	217	Q9P2Y5	UVRAG_HUMAN	E	217;116;116	ENSP00000348455:G217E;ENSP00000436039:G116E	ENSP00000348455:G217E	G	+	2	0	UVRAG	75350192	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.292000	0.89930	2.700000	0.92200	0.655000	0.94253	GGA	UVRAG	-	NULL		0.323	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75672544	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1629270	1629270	+	Silent	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:1629270C>A	ENST00000409644.1	+	1	1017	c.1017C>A	c.(1015-1017)ccC>ccA	p.P339P	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	339	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCAACCCACTGGCCAGG	0.617																																																	0													63.0	60.0	61.0					17																	1629270		692	1591	2283	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1017C>A	17.37:g.1629270C>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P339	ENST00000409644.1	37	c.1017	CCDS54062.1	17																																																																																			WDR81	-	pfscan_BEACH_dom		0.617	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1629270	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	0.001	A
ZFYVE27	118813	genome.wustl.edu	37	10	99516960	99516960	+	Intron	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:99516960G>T	ENST00000393677.4	+	11	1246				ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000356257.4_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000453958.2_Intron|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000359980.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27						cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GAAGCGCCAGGAGCAGGTGAG	0.602																																																	0													56.0	54.0	55.0					10																	99516960		692	1591	2283	SO:0001627	intron_variant	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.1043-62G>T	10.37:g.99516960G>T			B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	RNA	SNP	-	NULL	ENST00000393677.4	37	NULL	CCDS31263.1	10																																																																																			ZFYVE27	-	-		0.602	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2	G	NM_144588		99516960	+1	no_errors	ENST00000477521	ensembl	human	known	70_37	rna	SNP	0.009	T
WNT8B	7479	genome.wustl.edu	37	10	102222993	102222993	+	Splice_Site	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:102222993G>T	ENST00000343737.5	+	1	196	c.68G>T	c.(67-69)tGg>tTg	p.W23L		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	23					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGCCACAGCTGGTAAGTAACC	0.423																																																	0													108.0	103.0	105.0					10																	102222993		2203	4300	6503	SO:0001630	splice_region_variant	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.68+1G>T	10.37:g.102222993G>T			O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.W23L	ENST00000343737.5	37	c.68	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602154	0.66445	.	.	ENSG00000075290	ENST00000343737	T	0.72615	-0.67	5.95	5.95	0.96441	.	0.136507	0.53938	D	0.000057	T	0.71443	0.3340	M	0.79805	2.47	0.58432	D	0.999992	B	0.06786	0.001	B	0.17722	0.019	T	0.69075	-0.5241	10	0.02654	T	1	.	19.9669	0.97274	0.0:0.0:1.0:0.0	.	23	Q93098	WNT8B_HUMAN	L	23	ENSP00000340677:W23L	ENSP00000340677:W23L	W	+	2	0	WNT8B	102212983	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.271000	0.78506	2.826000	0.97356	0.491000	0.48974	TGG	WNT8B	-	smart_Wnt		0.423	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	G	NM_003393	Missense_Mutation	102222993	+1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFYVE28	57732	genome.wustl.edu	37	4	2306606	2306606	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:2306606G>T	ENST00000290974.2	-	8	1800	c.1461C>A	c.(1459-1461)caC>caA	p.H487Q	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.H457Q|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.H417Q|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	487					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGCCGTCCAGGTGCAGCCGCG	0.652																																																	0													38.0	39.0	39.0					4																	2306606		2119	4156	6275	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1461C>A	4.37:g.2306606G>T	ENSP00000290974:p.His487Gln		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H487Q	ENST00000290974.2	37	c.1461	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	G	9.404	1.078707	0.20227	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57595	0.4;0.39;0.4	4.07	0.158	0.14942	.	0.559137	0.19214	N	0.119847	T	0.38746	0.1052	L	0.51422	1.61	0.80722	D	1	B;B	0.30281	0.001;0.275	B;B	0.25884	0.004;0.064	T	0.11743	-1.0575	10	0.59425	D	0.04	.	4.7724	0.13162	0.0798:0.1287:0.5791:0.2125	.	457;487	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	Q	487;457;417	ENSP00000290974:H487Q;ENSP00000425706:H457Q;ENSP00000426299:H417Q	ENSP00000290974:H487Q	H	-	3	2	ZFYVE28	2276404	1.000000	0.71417	0.107000	0.21349	0.085000	0.17905	3.034000	0.49751	-0.213000	0.10094	-0.490000	0.04691	CAC	ZFYVE28	-	NULL		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	G	XM_035371		2306606	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	missense	SNP	0.994	T
ZNF169	169841	genome.wustl.edu	37	9	97062730	97062730	+	Missense_Mutation	SNP	G	G	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:97062730G>A	ENST00000395395.2	+	5	980	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAATGTGGGCGACACTTCAGG	0.562																																																	0													93.0	93.0	93.0					9																	97062730		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.890G>A	9.37:g.97062730G>A	ENSP00000378792:p.Arg297Gln		A2AGP5|A8K127|Q6PI28	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.R297Q	ENST00000395395.2	37	c.890	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025567	0.35701	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.35973	1.28	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25344	0.0616	N	0.25286	0.73	0.25308	N	0.989229	P	0.44578	0.838	B	0.43103	0.408	T	0.08911	-1.0699	9	0.66056	D	0.02	.	5.8165	0.18495	0.1451:0.0:0.8549:0.0	.	297	Q14929	ZN169_HUMAN	Q	297;106	ENSP00000378792:R297Q	ENSP00000340711:R106Q	R	+	2	0	ZNF169	96102551	0.031000	0.19500	0.148000	0.22405	0.413000	0.31143	0.428000	0.21395	1.910000	0.55303	0.603000	0.83216	CGA	ZNF169	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	G	NM_194320		97062730	+1	no_errors	ENST00000395395	ensembl	human	known	70_37	missense	SNP	0.030	A
ZNF202	7753	genome.wustl.edu	37	11	123599867	123599867	+	Silent	SNP	T	T	C			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:123599867T>C	ENST00000529691.1	-	4	888	c.669A>G	c.(667-669)tcA>tcG	p.S223S	ZNF202_ENST00000336139.4_Silent_p.S223S|ZNF202_ENST00000530393.1_Silent_p.S223S			O95125	ZN202_HUMAN	zinc finger protein 202	223					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAACCATCTCTGAGTCTCCAG	0.498																																																	0													89.0	76.0	80.0					11																	123599867		2202	4299	6501	SO:0001819	synonymous_variant	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.669A>G	11.37:g.123599867T>C			B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S223	ENST00000529691.1	37	c.669	CCDS8443.1	11																																																																																			ZNF202	-	NULL		0.498	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	T	NM_003455		123599867	-1	no_errors	ENST00000336139	ensembl	human	known	70_37	silent	SNP	0.029	C
ZNF202	7753	genome.wustl.edu	37	11	123600469	123600469	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:123600469G>T	ENST00000529691.1	-	3	686	c.467C>A	c.(466-468)cCt>cAt	p.P156H	ZNF202_ENST00000336139.4_Missense_Mutation_p.P156H|ZNF202_ENST00000530393.1_Missense_Mutation_p.P156H			O95125	ZN202_HUMAN	zinc finger protein 202	156					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGGTGACTCAGGCTCCACTCC	0.567																																																	0													83.0	75.0	78.0					11																	123600469		2202	4299	6501	SO:0001583	missense	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.467C>A	11.37:g.123600469G>T	ENSP00000433881:p.Pro156His		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P156H	ENST00000529691.1	37	c.467	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363421	0.41902	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06294	3.32;3.32;3.32	5.32	4.4	0.53042	.	0.492896	0.17267	N	0.180524	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	P	0.46327	0.876	B	0.40101	0.319	T	0.36962	-0.9726	10	0.40728	T	0.16	-3.2987	9.6951	0.40152	0.0955:0.0:0.9045:0.0	.	156	O95125	ZN202_HUMAN	H	156	ENSP00000337724:P156H;ENSP00000432504:P156H;ENSP00000433881:P156H	ENSP00000337724:P156H	P	-	2	0	ZNF202	123105679	0.004000	0.15560	0.123000	0.21794	0.694000	0.40290	0.717000	0.25851	1.239000	0.43787	0.557000	0.71058	CCT	ZNF202	-	NULL		0.567	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	G	NM_003455		123600469	-1	no_errors	ENST00000336139	ensembl	human	known	70_37	missense	SNP	0.019	T
ZNF300	91975	genome.wustl.edu	37	5	150277689	150277689	+	Missense_Mutation	SNP	C	C	A			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:150277689C>A	ENST00000274599.5	-	5	620	c.200G>T	c.(199-201)tGg>tTg	p.W67L	ZNF300_ENST00000427179.1_Missense_Mutation_p.W67L|ZNF300_ENST00000394226.2_Missense_Mutation_p.W67L|ZNF300_ENST00000418587.2_Missense_Mutation_p.W31L|ZNF300_ENST00000446148.2_Missense_Mutation_p.W83L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTATGATCCATGGCTCTTC	0.373																																																	0													168.0	149.0	156.0					5																	150277689		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.200G>T	5.37:g.150277689C>A	ENSP00000274599:p.Trp67Leu		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.W83L	ENST00000274599.5	37	c.248	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689322	0.48097	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.48201	0.82;0.82;2.64;0.82;0.82	3.49	3.49	0.39957	Krueppel-associated box (2);	.	.	.	.	T	0.66626	0.2808	M	0.74647	2.275	0.30269	N	0.79244	D	0.63880	0.993	D	0.70227	0.968	T	0.65944	-0.6045	9	0.72032	D	0.01	.	12.8944	0.58091	0.0:1.0:0.0:0.0	.	67	Q96RE9	ZN300_HUMAN	L	83;67;31;67;67	ENSP00000397178:W83L;ENSP00000274599:W67L;ENSP00000392593:W31L;ENSP00000414195:W67L;ENSP00000377773:W67L	ENSP00000274599:W67L	W	-	2	0	ZNF300	150257882	0.882000	0.30256	1.000000	0.80357	0.917000	0.54804	0.612000	0.24283	1.967000	0.57214	0.563000	0.77884	TGG	ZNF300	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277689	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF76	7629	genome.wustl.edu	37	6	35259070	35259070	+	Missense_Mutation	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:35259070G>T	ENST00000373953.3	+	8	907	c.641G>T	c.(640-642)aGc>aTc	p.S214I	ZNF76_ENST00000440666.2_Missense_Mutation_p.S188I|ZNF76_ENST00000339411.5_Missense_Mutation_p.S214I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	214					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGACTGAAGAGCCACGTTCGT	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													71.0	50.0	57.0					6																	35259070		2203	4300	6503	SO:0001583	missense	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.641G>T	6.37:g.35259070G>T	ENSP00000363064:p.Ser214Ile		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S214I	ENST00000373953.3	37	c.641	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233981	0.79688	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.18174	3.14;2.23;2.23;2.23	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000092	T	0.12050	0.0293	N	0.05012	-0.13	0.50632	D	0.999887	D;D;D	0.64830	0.994;0.964;0.994	D;P;D	0.65233	0.933;0.682;0.925	T	0.28138	-1.0053	10	0.39692	T	0.17	.	14.9211	0.70838	0.0:0.1434:0.8566:0.0	.	214;214;214	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	I	214;214;214;214;188;214	ENSP00000419106:S214I;ENSP00000363064:S214I;ENSP00000392243:S188I;ENSP00000344097:S214I	ENSP00000344097:S214I	S	+	2	0	ZNF76	35367048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.732000	0.84908	2.706000	0.92434	0.563000	0.77884	AGC	ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35259070	+1	no_errors	ENST00000373953	ensembl	human	known	70_37	missense	SNP	1.000	T
ZSWIM4	65249	genome.wustl.edu	37	19	13936364	13936364	+	Splice_Site	SNP	G	G	T			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:13936364G>T	ENST00000254323.2	+	11	2054	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	ZSWIM4_ENST00000440752.2_Splice_Site_p.G456V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	622							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTTCACCCAGGAGACCCCAAG	0.622																																																	0													89.0	91.0	90.0					19																	13936364		2203	4300	6503	SO:0001630	splice_region_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1865-1G>T	19.37:g.13936364G>T				Missense_Mutation	SNP	pfscan_Znf_SWIM	p.G622V	ENST00000254323.2	37	c.1865	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989860	0.54041	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.54866	0.55;0.56	3.89	3.89	0.44902	.	0.126193	0.32918	N	0.005484	T	0.52549	0.1741	L	0.41906	1.305	0.80722	D	1	P;P	0.49862	0.873;0.929	P;P	0.51324	0.49;0.666	T	0.50659	-0.8802	9	.	.	.	.	13.3774	0.60747	0.0:0.0:1.0:0.0	.	456;622	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	V	622;456	ENSP00000254323:G622V;ENSP00000405278:G456V	.	G	+	2	0	ZSWIM4	13797364	1.000000	0.71417	0.994000	0.49952	0.765000	0.43378	9.145000	0.94634	2.001000	0.58596	0.591000	0.81541	GGA	ZSWIM4	-	NULL		0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342	Missense_Mutation	13936364	+1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	1.000	T
