#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_ensembl_gene_id	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_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCB11	8647	genome.wustl.edu	37	2	169814554	169814554	+	Missense_Mutation	SNP	T	T	C	rs368297188		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:169814554T>C	ENST00000263817.6	-	19	2387	c.2263A>G	c.(2263-2265)Atg>Gtg	p.M755V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	755	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCTACCAGCATGTAGGGCCAT	0.507																																																	0													76.0	74.0	75.0					2																	169814554		1915	4131	6046	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2263A>G	2.37:g.169814554T>C	ENSP00000263817:p.Met755Val		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.M755V	ENST00000263817.6	37	c.2263	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181267	0.21787	.	.	ENSG00000073734	ENST00000263817	T	0.79653	-1.29	5.11	5.11	0.69529	ABC transporter, transmembrane domain, type 1 (1);	0.036775	0.85682	D	0.000000	T	0.74145	0.3678	L	0.43757	1.38	0.51767	D	0.999934	B;B	0.23990	0.025;0.095	B;B	0.30105	0.076;0.111	T	0.68300	-0.5445	10	0.13853	T	0.58	.	14.1551	0.65413	0.0:0.0:0.0:1.0	.	197;755	B4DZQ8;O95342	.;ABCBB_HUMAN	V	755	ENSP00000263817:M755V	ENSP00000263817:M755V	M	-	1	0	ABCB11	169522800	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.368000	0.52357	2.049000	0.60858	0.383000	0.25322	ATG	ABCB11	-	superfamily_ABC1_TM_dom	ENSG00000073734		0.507	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0.00	44	0	T	NM_003742		169814554	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	C
ABTB1	80325	genome.wustl.edu	37	3	127396666	127396666	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:127396666A>G	ENST00000232744.8	+	10	1095	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	ABTB1_ENST00000453791.2_Missense_Mutation_p.M195V|ABTB1_ENST00000393363.3_Missense_Mutation_p.M195V|ABTB1_ENST00000468137.1_Missense_Mutation_p.M195V					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTCTACTACATGTACAGCGA	0.662																																																	0													35.0	34.0	34.0					3																	127396666		2203	4300	6503	SO:0001583	missense	0			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1009A>G	3.37:g.127396666A>G	ENSP00000232744:p.Met337Val			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.M337V	ENST00000232744.8	37	c.1009	CCDS3045.1	3	.	.	.	.	.	.	.	.	.	.	a	0.891	-0.725402	0.03158	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.17	-3.75	0.04372	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.344142	0.31210	N	0.008046	T	0.38268	0.1034	N	0.10618	0.005	0.21802	N	0.999531	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25047	-1.0143	10	0.11794	T	0.64	-18.3955	13.9037	0.63821	0.796:0.0:0.204:0.0	.	173;337;312	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	V	173;195;337;195;195	ENSP00000377030:M195V;ENSP00000232744:M337V;ENSP00000412684:M195V;ENSP00000417366:M195V	ENSP00000232744:M337V	M	+	1	0	ABTB1	128879356	0.999000	0.42202	0.003000	0.11579	0.658000	0.38924	3.783000	0.55409	-0.843000	0.04189	-1.002000	0.02502	ATG	ABTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000114626		0.662	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	HGNC	protein_coding	OTTHUMT00000356595.1		0.00	12	0	A	NM_172027		127396666	+1			no_errors	ENST00000232744	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.925	G
ACCS	84680	genome.wustl.edu	37	11	44095006	44095006	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:44095006C>T	ENST00000263776.8	+	4	792	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	ACCS_ENST00000533208.1_3'UTR|CTD-2609K8.3_ENST00000531268.1_RNA|ACCS_ENST00000432284.2_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	120					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGAGTCAGCGCGACATGCA	0.587																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													90.0	64.0	73.0					11																	44095006		2203	4300	6503	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.358C>T	11.37:g.44095006C>T	ENSP00000263776:p.Arg120Cys		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R120C	ENST00000263776.8	37	c.358	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336131	0.41398	.	.	ENSG00000110455	ENST00000524990;ENST00000263776	T;T	0.31247	1.5;1.93	5.51	3.11	0.35812	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.409242	0.29046	N	0.013313	T	0.14313	0.0346	N	0.05078	-0.115	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.003;0.005	T	0.07481	-1.0770	10	0.45353	T	0.12	0.2785	7.3923	0.26917	0.6342:0.2935:0.0723:0.0	.	47;120	B4DYM9;Q96QU6	.;1A1L1_HUMAN	C	120	ENSP00000434156:R120C;ENSP00000263776:R120C	ENSP00000263776:R120C	R	+	1	0	ACCS	44051582	0.961000	0.32948	0.539000	0.28077	0.057000	0.15508	1.186000	0.32078	0.042000	0.15717	-1.339000	0.01253	CGC	ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000110455		0.587	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1		0.00	36	0	C	NM_032592		44095006	+1			no_errors	ENST00000263776	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.633	T
ACHE	43	genome.wustl.edu	37	7	100490407	100490407	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:100490407C>T	ENST00000412389.1	-	2	1256	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	ACHE_ENST00000411582.1_Silent_p.S367S|ACHE_ENST00000428317.1_Silent_p.S367S|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Silent_p.S367S|ACHE_ENST00000241069.5_Silent_p.S367S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	367					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCAGAAAATACGAGCCCTCAT	0.617																																																	0																																										SO:0001819	synonymous_variant	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1101G>A	7.37:g.100490407C>T			A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.S367	ENST00000412389.1	37	c.1101	CCDS5709.1	7																																																																																			ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0.00	71	0	C	NM_015831		100490407	-1	tier1	rs138349745	no_errors	ENST00000302913	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.998	T
ACSF2	80221	genome.wustl.edu	37	17	48538652	48538652	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:48538652A>G	ENST00000300441.4	+	3	478	c.374A>G	c.(373-375)gAc>gGc	p.D125G	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.D150G|ACSF2_ENST00000502667.1_Missense_Mutation_p.D125G|ACSF2_ENST00000504392.1_Intron	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	125					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAAAGGTGACCGGCTGGGC	0.607																																																	0													53.0	47.0	49.0					17																	48538652		2203	4300	6503	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.374A>G	17.37:g.48538652A>G	ENSP00000300441:p.Asp125Gly		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D125G	ENST00000300441.4	37	c.374	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801495	0.90538	.	.	ENSG00000167107	ENST00000300441;ENST00000427954;ENST00000502667	T;T;T	0.59906	0.23;0.23;0.23	5.28	5.28	0.74379	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86918	0.2065	10	0.87932	D	0	-34.1155	14.9075	0.70730	1.0:0.0:0.0:0.0	.	125;150;125	B4DHT5;B4DFQ6;Q96CM8	.;.;ACSF2_HUMAN	G	125;150;125	ENSP00000300441:D125G;ENSP00000401831:D150G;ENSP00000421884:D125G	ENSP00000300441:D125G	D	+	2	0	ACSF2	45893651	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.512000	0.90538	1.998000	0.58463	0.533000	0.62120	GAC	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.607	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	-	0.00	31	0	A	NM_025149		48538652	+1	tier1	-	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	88.24	4	30	SNP	1.000	G
ACSS2	55902	genome.wustl.edu	37	20	33515093	33515093	+	3'UTR	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:33515093G>A	ENST00000360596.2	+	0	2393				ACSS2_ENST00000336325.4_3'UTR|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGGAGTGCTGAGGGCCAGTG	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.*76G>A	20.37:g.33515093G>A			A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	RNA	SNP	-	NULL	ENST00000360596.2	37	NULL	CCDS13243.1	20																																																																																			ACSS2	-	-	ENSG00000131069		0.567	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0.00	12	0	G	NM_018677		33515093	+1	tier1	-	no_errors	ENST00000476922	ensembl	human	known	74_37	rna	53.33	7	8	SNP	0.000	A
ADIRF	10974	genome.wustl.edu	37	10	88728230	88728230	+	5'UTR	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:88728230G>A	ENST00000372013.3	+	0	282				RP11-96C23.5_ENST00000433214.2_RNA|ADIRF-AS1_ENST00000440490.1_RNA|ADIRF-AS1_ENST00000609111.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA|RP11-96C23.15_ENST00000609363.1_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor						cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GCTGGCGCTTGGCATCGCCAC	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"""adipose specific 2"", ""adipose most abundant gene transcript 2"", ""adipogenesis factor rich in obesity"""		"""chromosome 10 open reading frame 116"""	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.-72G>A	10.37:g.88728230G>A				RNA	SNP	-	NULL	ENST00000372013.3	37	NULL	CCDS7381.1	10																																																																																			ADIRF-AS1	-	-	ENSG00000272734		0.662	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIRF-AS1	HGNC	protein_coding	OTTHUMT00000049194.1	-	0.00	21	0	G	NM_006829		88728230	-1	tier1	-	no_errors	ENST00000609111	ensembl	human	known	74_37	rna	20.00	20	5	SNP	0.000	A
AGMO	392636	genome.wustl.edu	37	7	15425155	15425155	+	Silent	SNP	A	A	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:15425155A>T	ENST00000342526.3	-	10	1159	c.990T>A	c.(988-990)tcT>tcA	p.S330S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	330					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTGAGATGAAGATGATGAGA	0.368																																																	0													101.0	99.0	99.0					7																	15425155		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.990T>A	7.37:g.15425155A>T			A4D114|A6NCH5	Silent	SNP	pfam_Fatty_acid_hydroxylase	p.S330	ENST00000342526.3	37	c.990	CCDS34604.1	7																																																																																			AGMO	-	NULL	ENSG00000187546		0.368	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	-	0.00	74	0	A	NM_001004320		15425155	-1	tier1	-	no_errors	ENST00000342526	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	T
AGPAT3	56894	genome.wustl.edu	37	21	45401010	45401010	+	Silent	SNP	C	C	T	rs368771018		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr21:45401010C>T	ENST00000398063.2	+	8	1476	c.984C>T	c.(982-984)ggC>ggT	p.G328G	AGPAT3_ENST00000327505.2_Silent_p.G328G|AGPAT3_ENST00000398061.1_Silent_p.G328G|AGPAT3_ENST00000291572.8_Silent_p.G328G|AGPAT3_ENST00000546158.1_Silent_p.G328G|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.G328G	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	328					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTGTCTTGGGCGTCTTTGCCA	0.577																																					Pancreas(60;623 1650 5574 52796)												0								C	,	0,4406		0,0,2203	133.0	116.0	121.0		984,984	-6.9	0.8	21		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AGPAT3	NM_001037553.1,NM_020132.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	328/377,328/377	45401010	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.984C>T	21.37:g.45401010C>T			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.G328	ENST00000398063.2	37	c.984	CCDS13703.1	21																																																																																			AGPAT3	-	NULL	ENSG00000160216		0.577	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195722.1		0.00	44	0	C	NM_020132		45401010	+1			no_errors	ENST00000291572	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.032	T
ALX1	8092	genome.wustl.edu	37	12	85695015	85695015	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:85695015G>A	ENST00000316824.3	+	4	898	c.743G>A	c.(742-744)tGt>tAt	p.C248Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	248					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACTTCCTCCTGTATGACACCT	0.448																																																	0													151.0	139.0	143.0					12																	85695015		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.743G>A	12.37:g.85695015G>A	ENSP00000315417:p.Cys248Tyr		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.C248Y	ENST00000316824.3	37	c.743	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505163	0.64410	.	.	ENSG00000180318	ENST00000316824	D	0.92699	-3.09	5.99	5.99	0.97316	.	0.133460	0.64402	D	0.000001	D	0.94538	0.8241	M	0.64170	1.965	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	D	0.91859	0.5498	10	0.23302	T	0.38	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	248	Q15699	ALX1_HUMAN	Y	248	ENSP00000315417:C248Y	ENSP00000315417:C248Y	C	+	2	0	ALX1	84219146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.355000	0.97087	2.840000	0.97914	0.655000	0.94253	TGT	ALX1	-	NULL	ENSG00000180318		0.448	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	-	0.00	87	0	G	NM_006982		85695015	+1	tier1	-	no_errors	ENST00000316824	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	A
AMPH	273	genome.wustl.edu	37	7	38670935	38670935	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:38670935G>A	ENST00000356264.2	-	1	232	c.17C>T	c.(16-18)aCg>aTg	p.T6M	AMPH_ENST00000325590.5_Missense_Mutation_p.T6M|AMPH_ENST00000428293.2_Missense_Mutation_p.T6M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	6					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAAGATGCCCGTCTTGATGTC	0.746																																																	0													13.0	10.0	11.0					7																	38670935		2169	4254	6423	SO:0001583	missense	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.17C>T	7.37:g.38670935G>A	ENSP00000348602:p.Thr6Met		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.T6M	ENST00000356264.2	37	c.17	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851236	0.91355	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.61158	0.15;0.13;0.16	4.35	3.46	0.39613	.	0.000000	0.64402	D	0.000001	T	0.57125	0.2032	N	0.14661	0.345	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;P	0.63597	0.916;0.877	T	0.62950	-0.6745	10	0.87932	D	0	-8.8357	13.0797	0.59107	0.0:0.0:0.8375:0.1625	.	6;6	P49418-2;P49418	.;AMPH_HUMAN	M	6	ENSP00000317441:T6M;ENSP00000348602:T6M;ENSP00000390734:T6M	ENSP00000317441:T6M	T	-	2	0	AMPH	38637460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.060000	0.71141	0.786000	0.33708	0.467000	0.42956	ACG	AMPH	-	prints_Amphiphysin_1	ENSG00000078053		0.746	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	21	0	G	NM_001635		38670935	-1	tier1	-	no_errors	ENST00000356264	ensembl	human	known	74_37	missense	72.50	11	29	SNP	1.000	A
ANKRD13D	338692	genome.wustl.edu	37	11	67059125	67059125	+	Missense_Mutation	SNP	G	G	A	rs370874560		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:67059125G>A	ENST00000447274.2	+	5	1363	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R150Q|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R63Q|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R63Q			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	63						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGTGGAAGCGGGGTGAGAGC	0.632																																																	0								G	GLN/ARG	0,4400		0,0,2200	75.0	77.0	76.0		449	3.0	1.0	11		76	1,8589	1.2+/-3.3	0,1,4294	no	missense	ANKRD13D	NM_207354.2	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	150/606	67059125	1,12989	2200	4295	6495	SO:0001583	missense	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.188G>A	11.37:g.67059125G>A	ENSP00000402616:p.Arg63Gln		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.R150Q	ENST00000447274.2	37	c.449		11	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717410	0.68844	0.0	1.16E-4	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.33438	1.41;1.61;1.41;1.41	3.95	3.03	0.35002	.	0.237616	0.33834	N	0.004513	T	0.18841	0.0452	N	0.12637	0.245	0.45554	D	0.998508	D;P	0.53312	0.959;0.454	P;B	0.45071	0.468;0.048	T	0.02404	-1.1164	10	0.30078	T	0.28	-19.6632	10.9754	0.47463	0.0945:0.0:0.9055:0.0	.	150;63	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	Q	63;150;63;63	ENSP00000402616:R63Q;ENSP00000427130:R150Q;ENSP00000310874:R63Q;ENSP00000444404:R63Q	ENSP00000310874:R63Q	R	+	2	0	ANKRD13D	66815701	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	9.629000	0.98417	1.027000	0.39758	-0.291000	0.09656	CGG	ANKRD13D	-	NULL	ENSG00000172932		0.632	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	-	0.00	43	0	G	NM_207354		67059125	+1	tier1	-	no_errors	ENST00000511455	ensembl	human	known	74_37	missense	89.29	6	50	SNP	1.000	A
ANKRD36	375248	genome.wustl.edu	37	2	97866239	97866239	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:97866239A>T	ENST00000461153.2	+	46	3078	c.2834A>T	c.(2833-2835)aAg>aTg	p.K945M	ANKRD36_ENST00000420699.2_Missense_Mutation_p.K945M			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	945										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGAGAAAAAAAGGATGGAGAA	0.353																																																	0													116.0	120.0	119.0					2																	97866239		692	1591	2283	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2834A>T	2.37:g.97866239A>T	ENSP00000419530:p.Lys945Met		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K945M	ENST00000461153.2	37	c.2834	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	8.274	0.813925	0.16537	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78003	-1.14;-1.14	0.85	0.85	0.18980	.	.	.	.	.	T	0.78780	0.4337	L	0.42245	1.32	0.09310	N	0.999999	D	0.71674	0.998	D	0.67725	0.953	T	0.64364	-0.6425	9	0.54805	T	0.06	.	3.9805	0.09493	1.0:0.0:0.0:0.0	.	945	A6QL64	AN36A_HUMAN	M	945;945;307	ENSP00000419530:K945M;ENSP00000391950:K945M	ENSP00000391950:K945M	K	+	2	0	ANKRD36	97229966	0.367000	0.25023	0.060000	0.19600	0.009000	0.06853	0.795000	0.26972	0.631000	0.30412	0.136000	0.15936	AAG	ANKRD36	-	NULL	ENSG00000135976		0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0.00	332	0	A			97866239	+1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	12.89	337	50	SNP	0.075	T
ANKZF1	55139	genome.wustl.edu	37	2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577																																																	0													108.0	115.0	113.0					2																	220101063		2066	4201	6267	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2077G>A	2.37:g.220101063G>A	ENSP00000321617:p.Ala693Thr		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A693T	ENST00000323348.5	37	c.2077	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896927	0.33535	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94576	-3.46;-3.46;-3.46	5.38	2.09	0.27110	.	0.352416	0.31519	N	0.007505	D	0.82462	0.5042	N	0.03608	-0.345	0.23341	N	0.997871	B	0.06786	0.001	B	0.06405	0.002	T	0.68842	-0.5302	10	0.15066	T	0.55	0.0036	8.1162	0.30944	0.2888:0.0:0.7112:0.0	.	693	Q9H8Y5	ANKZ1_HUMAN	T	693;483;693	ENSP00000321617:A693T;ENSP00000386815:A483T;ENSP00000386337:A693T	ENSP00000321617:A693T	A	+	1	0	ANKZF1	219809307	1.000000	0.71417	0.966000	0.40874	1.000000	0.99986	3.232000	0.51302	0.201000	0.20466	0.655000	0.94253	GCA	ANKZF1	-	NULL	ENSG00000163516		0.577	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0.00	61	0	G	NM_018089		220101063	+1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A
ANTXRL	195977	genome.wustl.edu	37	10	47701302	47701302	+	Frame_Shift_Del	DEL	G	G	-	rs7091749	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:47701302delG	ENST00000447511.2	+	17	2143	c.1878delG	c.(1876-1878)ccgfs	p.P626fs	ANTXRL_ENST00000537271.1_Frame_Shift_Del_p.R553fs	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	626						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										CACTCCCCCCGTCAGAGCCCA	0.557																																																	0																																										SO:0001589	frameshift_variant	0				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.1878delG	10.37:g.47701302delG	ENSP00000455449:p.Pro626fs		H3BPS2	Frame_Shift_Del	DEL	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R553fs	ENST00000447511.2	37	c.1658		10																																																																																			ANTXRL	-	NULL	ENSG00000198250		0.557	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	HGNC	protein_coding	OTTHUMT00000047862.2		0.00	35	0	G	XM_113625		47701302	+1	tier1		no_errors	ENST00000537271	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.000	-
APOBEC3H	164668	genome.wustl.edu	37	22	39497275	39497275	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:39497275G>A	ENST00000401756.1	+	3	260	c.184G>A	c.(184-186)Gag>Aag	p.E62K	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.E62K|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.E62K|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.E62K	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	62	CMP/dCMP deaminase zinc-binding.				cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CTTTATTAACGAGATCAAGTC	0.542																																																	0													98.0	85.0	89.0					22																	39497275		2203	4300	6503	SO:0001583	missense	0			BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.184G>A	22.37:g.39497275G>A	ENSP00000385741:p.Glu62Lys		B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.E62K	ENST00000401756.1	37	c.184	CCDS54530.1	22	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.592384	0.00864	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	3.33	-5.13	0.02884	.	.	.	.	.	T	0.17280	0.0415	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27365	-1.0076	9	0.05436	T	0.98	-17.7871	5.6904	0.17827	0.2971:0.3031:0.3998:0.0	.	62	B7TQM3	.	K	62	ENSP00000216123:E62K;ENSP00000411754:E62K;ENSP00000393520:E62K;ENSP00000385741:E62K	ENSP00000216123:E62K	E	+	1	0	APOBEC3H	37827221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.972000	0.03802	-1.386000	0.02098	-2.756000	0.00123	GAG	APOBEC3H	-	pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	ENSG00000100298		0.542	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	APOBEC3H	HGNC	protein_coding	OTTHUMT00000321230.1	-	0.00	41	0	G	NM_181773		39497275	+1	tier1	-	no_errors	ENST00000442487	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.000	A
ARHGAP21	57584	genome.wustl.edu	37	10	24884972	24884972	+	Splice_Site	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:24884972A>G	ENST00000396432.2	-	18	3964	c.3478T>C	c.(3478-3480)Tat>Cat	p.Y1160H	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Splice_Site_p.Y947H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1159	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATGGAATATACTGCAAAACA	0.308																																																	0													28.0	28.0	28.0					10																	24884972		2198	4285	6483	SO:0001630	splice_region_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3478-1T>C	10.37:g.24884972A>G			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.Y1160H	ENST00000396432.2	37	c.3478	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712131	0.48517	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	T;T;T	0.21734	2.8;2.8;1.99	5.27	5.27	0.74061	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.059686	0.64402	D	0.000001	T	0.26919	0.0659	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.08764	-1.0706	10	0.27082	T	0.32	.	15.4899	0.75597	1.0:0.0:0.0:0.0	.	1159	Q5T5U3	RHG21_HUMAN	H	1160;609;947;1	ENSP00000379709:Y1160H;ENSP00000365604:Y947H;ENSP00000402761:Y1H	ENSP00000365604:Y947H	Y	-	1	0	ARHGAP21	24924978	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.182000	0.77689	2.125000	0.65367	0.533000	0.62120	TAT	ARHGAP21	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000107863		0.308	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4		0.00	19	0	A	NM_020824	Missense_Mutation	24884972	-1			no_errors	ENST00000396432	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	G
ARHGAP28	79822	genome.wustl.edu	37	18	6876132	6876132	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:6876132T>G	ENST00000383472.4	+	10	1319	c.1215T>G	c.(1213-1215)ttT>ttG	p.F405L	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.F246L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.F246L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.F246L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.F353L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.F228L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.F241L|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.F405L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	405	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.F405L(1)|p.F246L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTTCTAGTTTTTTGAGAAAG	0.338																																																	2	Substitution - Missense(2)	large_intestine(2)											125.0	120.0	122.0					18																	6876132		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1215T>G	18.37:g.6876132T>G	ENSP00000372964:p.Phe405Leu		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F405L	ENST00000383472.4	37	c.1215		18	.	.	.	.	.	.	.	.	.	.	T	5.275	0.236227	0.10023	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.74	0.884	0.19182	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.219639	0.44285	D	0.000474	T	0.02193	0.0068	N	0.00224	-1.81	0.29533	N	0.852624	B;B;B;B	0.16603	0.006;0.018;0.003;0.001	B;B;B;B	0.15052	0.005;0.012;0.007;0.001	T	0.35847	-0.9772	10	0.02654	T	1	.	1.7348	0.02939	0.1313:0.328:0.1532:0.3875	.	405;237;246;353	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	405;353;246;241;246;246;237;228	ENSP00000382963:F405L;ENSP00000262227:F353L;ENSP00000392660:F246L;ENSP00000437262:F241L;ENSP00000313506:F246L;ENSP00000406907:F246L	ENSP00000262227:F353L	F	+	3	2	ARHGAP28	6866132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.403000	0.20982	0.202000	0.20498	0.459000	0.35465	TTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.338	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3		0.00	48	0	T	XM_371108		6876132	+1			no_errors	ENST00000400091	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.995	G
ASB5	140458	genome.wustl.edu	37	4	177136878	177136878	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:177136878G>T	ENST00000296525.3	-	7	976	c.863C>A	c.(862-864)gCt>gAt	p.A288D	ASB5_ENST00000512254.1_Splice_Site_p.A235D	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	288	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A288G(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCTTGGGGTAGCTACAAGAAG	0.353																																																	1	Substitution - Missense(1)	lung(1)											91.0	88.0	89.0					4																	177136878		2203	4300	6503	SO:0001630	splice_region_variant	0			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.863-1C>A	4.37:g.177136878G>T			Q8N7B5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A288D	ENST00000296525.3	37	c.863	CCDS3827.1	4	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833283	0.71258	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.28255	1.62;1.62	5.16	5.16	0.70880	SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (1);	0.101195	0.64402	D	0.000002	T	0.46092	0.1375	M	0.73430	2.235	0.80722	D	1	P;P	0.48834	0.576;0.916	B;P	0.48063	0.244;0.565	T	0.53933	-0.8368	10	0.87932	D	0	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	288;235	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	D	288;235	ENSP00000296525:A288D;ENSP00000422877:A235D	ENSP00000296525:A288D	A	-	2	0	ASB5	177373872	1.000000	0.71417	0.657000	0.29651	0.880000	0.50808	5.047000	0.64232	2.392000	0.81423	0.591000	0.81541	GCT	ASB5	-	pfscan_SOCS_C	ENSG00000164122		0.353	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB5	HGNC	protein_coding	OTTHUMT00000362344.1	-	0.00	56	0	G		Missense_Mutation	177136878	-1	tier1	-	no_errors	ENST00000296525	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96788614	96788614	+	Intron	DEL	A	A	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:96788614delA	ENST00000359933.4	-	18	3630				snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTCAGTGCAAAAAAAAAGG	0.353																																																	0										5,26,3501		0,0,5,0,26,1735	75.0	71.0	72.0			-2.9	0.0	14		75	23,91,7706		1,0,21,1,89,3798	no	intron	ATG2B	NM_018036.5		1,0,26,1,115,5533	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4578,0.8777,1.2773			96788614	28,117,11207	1827	4079	5906	SO:0001627	intron_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-23T>-	14.37:g.96788614delA			Q6ZRE7|Q96DQ3|Q9NW80	RNA	DEL	-	NULL	ENST00000359933.4	37	NULL	CCDS9944.2	14																																																																																			ATG2B	-	-	ENSG00000066739		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1		0.00	39	0	A	NM_018036		96788614	-1	tier1		no_errors	ENST00000488421	ensembl	human	known	74_37	rna	6.67	28	2	DEL	0.000	-
BBS2	583	genome.wustl.edu	37	16	56531752	56531752	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:56531752A>G	ENST00000245157.5	-	14	2120	c.1700T>C	c.(1699-1701)aTc>aCc	p.I567T	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	567					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGACTGGATGATATCACCAGC	0.358									Bardet-Biedl syndrome																																								0													99.0	93.0	95.0					16																	56531752		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1700T>C	16.37:g.56531752A>G	ENSP00000245157:p.Ile567Thr		Q96CM0|Q96SN9	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.I567T	ENST00000245157.5	37	c.1700	CCDS32451.1	16	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689957	0.68271	.	.	ENSG00000125124	ENST00000245157	D	0.92595	-3.07	5.27	5.27	0.74061	.	0.227358	0.45606	D	0.000360	D	0.92599	0.7649	M	0.71581	2.175	0.58432	D	0.999999	B	0.29253	0.239	B	0.37304	0.246	D	0.92312	0.5858	10	0.87932	D	0	-7.2822	15.487	0.75575	1.0:0.0:0.0:0.0	.	567	Q9BXC9	BBS2_HUMAN	T	567	ENSP00000245157:I567T	ENSP00000245157:I567T	I	-	2	0	BBS2	55089253	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.233000	0.95337	2.115000	0.64714	0.459000	0.35465	ATC	BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot	ENSG00000125124		0.358	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	-	0.00	26	0	A	NM_031885		56531752	-1	tier1	-	no_errors	ENST00000245157	ensembl	human	known	74_37	missense	78.79	7	26	SNP	1.000	G
BCAR1	9564	genome.wustl.edu	37	16	75263905	75263905	+	Missense_Mutation	SNP	C	C	T	rs376571253		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:75263905C>T	ENST00000162330.5	-	7	2243	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	BCAR1_ENST00000418647.3_Missense_Mutation_p.R752Q|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Missense_Mutation_p.R706Q|BCAR1_ENST00000546196.1_Missense_Mutation_p.R677Q|BCAR1_ENST00000393422.2_Missense_Mutation_p.R724Q|BCAR1_ENST00000542031.2_Missense_Mutation_p.R704Q|BCAR1_ENST00000535626.2_Missense_Mutation_p.R558Q|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R724Q|BCAR1_ENST00000393420.6_Missense_Mutation_p.R724Q	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	706					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTTCCAGTCGTTCAAACTG	0.672																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4325		0,1,2162	30.0	36.0	34.0		2255,2171,2171,2171,2117,2111,1673,1487,2117	4.7	0.9	16		34	0,8480		0,0,4240	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	43,43,43,43,43,43,43,43,43	0,1,6402	TT,TC,CC		0.0,0.0231,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	752/917,724/889,724/889,724/889,706/871,704/869,558/723,496/661,706/871	75263905	1,12805	2163	4240	6403	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2117G>A	16.37:g.75263905C>T	ENSP00000162330:p.Arg706Gln		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.R752Q	ENST00000162330.5	37	c.2255	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637540	0.47049	2.31E-4	0.0	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.72	4.72	0.59763	CAS family, DUF3513 (1);	0.162448	0.41605	D	0.000857	T	0.37732	0.1014	L	0.29908	0.895	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.986;0.994;0.986;0.975;0.975;0.986;0.994;0.986;0.996	T	0.06267	-1.0836	10	0.20519	T	0.43	-6.7934	16.6397	0.85068	0.0:1.0:0.0:0.0	.	724;558;752;704;724;724;706;706;496	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	Q	706;724;724;706;752;558;724;704;677	ENSP00000162330:R706Q;ENSP00000377074:R724Q;ENSP00000392708:R724Q;ENSP00000443841:R706Q;ENSP00000391669:R752Q;ENSP00000440370:R558Q;ENSP00000377072:R724Q;ENSP00000440415:R704Q;ENSP00000442161:R677Q	ENSP00000162330:R706Q	R	-	2	0	BCAR1	73821406	0.992000	0.36948	0.946000	0.38457	0.463000	0.32649	2.999000	0.49473	2.328000	0.79073	0.557000	0.71058	CGA	BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.672	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0.00	45	0	C	NM_014567		75263905	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.994	T
C11orf80	79703	genome.wustl.edu	37	11	66512290	66512291	+	In_Frame_Ins	INS	-	-	GGC	rs567536854|rs71045961|rs377555566		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:66512290_66512291insGGC	ENST00000360962.4	+	1	84_85	c.77_78insGGC	c.(76-81)ggggcg>ggGGCggcg	p.34_35insA	C11orf80_ENST00000527634.1_5'UTR|C11orf80_ENST00000346672.4_5'UTR|C11orf80_ENST00000532565.2_5'Flank|C11orf80_ENST00000540737.1_5'UTR|C11orf80_ENST00000527368.1_3'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	34										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTGAGGAGGGggcggcggcgg	0.787																																																	0										20,74		9,2,36						-5.0	0.0		dbSNP_130	1	203,337		98,7,165	no	coding	C11orf80	NM_024650.3		107,9,201	A1A1,A1R,RR		37.5926,21.2766,35.1735				223,411				SO:0001652	inframe_insertion	0					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.99_101dupGGC	11.37:g.66512297_66512299dupGGC	ENSP00000354227:p.Ala34_Ala34dup		Q9H677	In_Frame_Ins	INS	NULL	p.30in_frame_insA	ENST00000360962.4	37	c.77_78	CCDS53664.1	11																																																																																			C11orf80	-	NULL	ENSG00000173715		0.787	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding			0.00	15	0	-	NM_024650		66512291	+1	tier1		no_errors	ENST00000360962	ensembl	human	known	74_37	in_frame_ins	40.91	13	9	INS	0.001:0.003	GGC
C12orf40	283461	genome.wustl.edu	37	12	40044041	40044041	+	Splice_Site	SNP	C	C	T	rs568770394		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:40044041C>T	ENST00000324616.5	+	7	725	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	C12orf40_ENST00000398716.1_Splice_Site_p.R114C|C12orf40_ENST00000405531.3_Splice_Site_p.R191C	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	191								p.R191C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTTTTTCAGCGCAGTACTGT	0.269													C|||	1	0.000199681	0.0	0.0	5008	,	,		12472	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	endometrium(1)											74.0	64.0	67.0					12																	40044041		1784	4060	5844	SO:0001630	splice_region_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.571-1C>T	12.37:g.40044041C>T			B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.R191C	ENST00000324616.5	37	c.571	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298950	0.10622	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.61	0.31194	.	0.479030	0.15666	N	0.250646	T	0.18800	0.0451	N	0.08118	0	0.26580	N	0.973408	B	0.24368	0.102	B	0.06405	0.002	T	0.15694	-1.0428	9	.	.	.	.	7.3809	0.26856	0.0:0.876:0.0:0.124	.	191	Q86WS4	CL040_HUMAN	C	191;114;191	ENSP00000383897:R191C;ENSP00000317671:R191C	.	R	+	1	0	C12orf40	38330308	0.027000	0.19231	0.785000	0.31869	0.303000	0.27691	-0.145000	0.10265	1.031000	0.39867	0.650000	0.86243	CGC	C12orf40	-	NULL	ENSG00000180116		0.269	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0.00	61	0	C	NM_173599	Missense_Mutation	40044041	+1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.804	T
C19orf81	342918	genome.wustl.edu	37	19	51159549	51159549	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:51159549G>A	ENST00000425202.1	+	3	207	c.207G>A	c.(205-207)cgG>cgA	p.R69R	SYT3_ENST00000544769.1_Intron	NM_001195076.1	NP_001182005.1	C9J6K1	CS081_HUMAN	chromosome 19 open reading frame 81	69																	CGTGCATCCGGAAGTTCCCCA	0.587																																																	0																																										SO:0001819	synonymous_variant	0				CCDS54296.1	19q13.33	2011-08-15			ENSG00000235034	ENSG00000235034			40041	protein-coding gene	gene with protein product							Standard	NM_001195076		Approved		uc021uyf.1	C9J6K1	OTTHUMG00000154593	ENST00000425202.1:c.207G>A	19.37:g.51159549G>A				Silent	SNP	NULL	p.R69	ENST00000425202.1	37	c.207	CCDS54296.1	19																																																																																			C19orf81	-	NULL	ENSG00000235034		0.587	C19orf81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf81	HGNC	protein_coding	OTTHUMT00000336224.2	-	0.00	33	0	G	NM_001195076		51159549	+1	tier1	-	no_errors	ENST00000425202	ensembl	human	known	74_37	silent	24.00	18	6	SNP	0.945	A
C1orf168	199920	genome.wustl.edu	37	1	57216857	57216857	+	Missense_Mutation	SNP	G	G	T	rs528999910		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:57216857G>T	ENST00000343433.6	-	9	1327	c.1247C>A	c.(1246-1248)aCa>aAa	p.T416K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	416										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTTTCAGGTGTCCCTTCACA	0.428																																																	0													105.0	91.0	96.0					1																	57216857		2203	4300	6503	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1247C>A	1.37:g.57216857G>T	ENSP00000345972:p.Thr416Lys		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.T416K	ENST00000343433.6	37	c.1247	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576550	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.32753	1.44	3.91	1.96	0.26148	.	0.434165	0.20063	N	0.100035	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	D	0.61080	0.989	P	0.55923	0.787	T	0.05209	-1.0899	10	0.54805	T	0.06	-2.2171	5.8991	0.18955	0.2506:0.0:0.7494:0.0	.	416	Q5VWT5	CA168_HUMAN	K	416	ENSP00000345972:T416K	ENSP00000345972:T416K	T	-	2	0	C1orf168	56989445	0.016000	0.18221	0.013000	0.15412	0.125000	0.20455	0.477000	0.22196	0.561000	0.29186	0.650000	0.86243	ACA	C1orf168	-	NULL	ENSG00000187889		0.428	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	-	0.00	33	0	G	NM_001004303		57216857	-1	tier1	-	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.018	T
C5orf42	65250	genome.wustl.edu	37	5	37224379	37224380	+	Frame_Shift_Ins	INS	-	-	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:37224379_37224380insT	ENST00000508244.1	-	13	2649_2650	c.2556_2557insA	c.(2554-2559)aaagctfs	p.A853fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.A853fs|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	853						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTTGTAGAGCTTTTTTCCACA	0.317																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2557dupA	5.37:g.37224385_37224385dupT	ENSP00000421690:p.Ala853fs		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	superfamily_Quino_amine_DH_bsu	p.A852fs	ENST00000508244.1	37	c.2557_2556	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.317	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0.00	53	0	-	NM_023073		37224380	-1	tier1		no_errors	ENST00000425232	ensembl	human	known	74_37	frame_shift_ins	45.59	37	31	INS	0.994:0.991	T
CABP1	9478	genome.wustl.edu	37	12	121098879	121098879	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:121098879C>T	ENST00000316803.3	+	5	1079	c.945C>T	c.(943-945)gaC>gaT	p.D315D	CABP1_ENST00000453000.1_Silent_p.D251D|CABP1_ENST00000351200.2_Silent_p.D112D|CABP1_ENST00000288616.3_Silent_p.D172D	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	315	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTAGTTTGACACCAATGGTG	0.542																																																	0													82.0	76.0	78.0					12																	121098879		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.945C>T	12.37:g.121098879C>T			O95663|Q8N6H5|Q9NZU8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D315	ENST00000316803.3	37	c.945	CCDS31913.1	12																																																																																			CABP1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000157782		0.542	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	-	0.00	45	0	C	NM_001033677		121098879	+1	tier1	-	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	73.33	8	22	SNP	1.000	T
CARD10	29775	genome.wustl.edu	37	22	37906373	37906373	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:37906373C>T	ENST00000403299.1	-	5	971	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.R252Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	252					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCTGGCCCTTCGAAGCAGTGC	0.602																																																	0													33.0	34.0	34.0					22																	37906373		2203	4300	6503	SO:0001583	missense	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.755G>A	22.37:g.37906373C>T	ENSP00000384570:p.Arg252Gln		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R252Q	ENST00000403299.1	37	c.755	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942819	0.53079	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.35605	1.3;1.3	4.71	3.69	0.42338	.	0.546700	0.17298	N	0.179395	T	0.32285	0.0824	M	0.79123	2.44	0.29042	N	0.885025	P	0.48503	0.911	B	0.28991	0.097	T	0.41858	-0.9485	10	0.56958	D	0.05	-10.589	10.6924	0.45879	0.0:0.8395:0.0:0.1605	.	252	Q9BWT7	CAR10_HUMAN	Q	252	ENSP00000384570:R252Q;ENSP00000251973:R252Q	ENSP00000251973:R252Q	R	-	2	0	CARD10	36236319	0.947000	0.32204	0.445000	0.26908	0.665000	0.39181	2.078000	0.41567	0.967000	0.38186	0.655000	0.94253	CGA	CARD10	-	NULL	ENSG00000100065		0.602	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1		0.00	38	0	C	NM_014550		37906373	-1			no_errors	ENST00000251973	ensembl	human	known	74_37	missense	25.00	6	2	SNP	0.993	T
CCR6	1235	genome.wustl.edu	37	6	167550105	167550105	+	Silent	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:167550105T>C	ENST00000341935.5	+	3	939	c.387T>C	c.(385-387)ttT>ttC	p.F129F	CCR6_ENST00000349984.4_Silent_p.F129F|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.F129F	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	129					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCATCAACTTTAACTGCGGGA	0.522																																																	0													111.0	107.0	108.0					6																	167550105		2203	4300	6503	SO:0001819	synonymous_variant	0			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.387T>C	6.37:g.167550105T>C			E1P5C6|P78553|Q92846	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2	p.F129	ENST00000341935.5	37	c.387	CCDS5298.1	6																																																																																			CCR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR_1/2	ENSG00000112486		0.522	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCR6	HGNC	protein_coding	OTTHUMT00000043118.1	-	0.00	19	0	T			167550105	+1	tier1	-	no_errors	ENST00000341935	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.889	C
CD27	939	genome.wustl.edu	37	12	6554291	6554291	+	Silent	SNP	C	C	T	rs34540052	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:6554291C>T	ENST00000266557.3	+	1	259	c.30C>T	c.(28-30)tgC>tgT	p.C10C	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	10					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						GGTGGCTGTGCGTTCTGGGGA	0.637													C|||	60	0.0119808	0.0446	0.0014	5008	,	,		15908	0.0		0.0	False		,,,				2504	0.0																0								C		109,4295		0,109,2093	18.0	24.0	22.0		30	2.1	0.3	12	dbSNP_126	22	0,8600		0,0,4300	no	coding-synonymous	CD27	NM_001242.4		0,109,6393	TT,TC,CC		0.0,2.475,0.8382		10/261	6554291	109,12895	2202	4300	6502	SO:0001819	synonymous_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.30C>T	12.37:g.6554291C>T			B2RDZ0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.C10	ENST00000266557.3	37	c.30	CCDS8545.1	12																																																																																			CD27	-	prints_TNFR_7	ENSG00000139193		0.637	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1		0.00	52	0	C			6554291	+1			no_errors	ENST00000266557	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.512	T
CD86	942	genome.wustl.edu	37	3	121822413	121822413	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:121822413G>T	ENST00000330540.2	+	3	235	c.119G>T	c.(118-120)tGc>tTc	p.C40F	CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.C34F|CD86_ENST00000483949.1_3'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	40	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GACCTGCCATGCCAATTTGCA	0.428																																					GBM(67;1379 1389 36064 39806)												0													89.0	89.0	89.0					3																	121822413		2203	4300	6503	SO:0001583	missense	0				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.119G>T	3.37:g.121822413G>T	ENSP00000332049:p.Cys40Phe		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.C40F	ENST00000330540.2	37	c.119	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.300412|3.300412	0.60195|0.60195	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.62364|.	0.03;0.03;0.03|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|D	0.84911|0.84911	0.5577|0.5577	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.87778|0.87778	0.2610|0.2610	10|5	0.87932|.	D|.	0|.	-19.5734|-19.5734	14.5151|14.5151	0.67814|0.67814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P42081|.	CD86_HUMAN|.	F|I	40;34;34|35	ENSP00000332049:C40F;ENSP00000419116:C34F;ENSP00000377248:C34F|.	ENSP00000332049:C40F|.	C|M	+|+	2|3	0|0	CD86|CD86	123305103|123305103	0.992000|0.992000	0.36948|0.36948	0.745000|0.745000	0.31077|0.31077	0.720000|0.720000	0.41350|0.41350	4.830000|4.830000	0.62745|0.62745	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TGC|ATG	CD86	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000114013		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	HGNC	protein_coding	OTTHUMT00000355671.1		0.00	77	0	G	NM_006889		121822413	+1			no_errors	ENST00000330540	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.735	T
CDC27	996	genome.wustl.edu	37	17	45249404	45249404	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:45249404G>T	ENST00000066544.3	-	3	223	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Intron|CDC27_ENST00000527547.1_Missense_Mutation_p.L44M|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.L44M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						caggttgccagtaaaaacaag	0.348																																																	0													30.0	29.0	29.0					17																	45249404		2202	4299	6501	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.130C>A	17.37:g.45249404G>T	ENSP00000066544:p.Leu44Met		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L44M	ENST00000066544.3	37	c.130	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971046	0.74246	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.69	2.56	0.30785	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	D	0.83617	0.5293	M	0.79343	2.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82370	-0.0491	10	0.87932	D	0	-23.3662	8.9417	0.35733	0.2508:0.0:0.7492:0.0	.	44;44;44	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	M	44	ENSP00000066544:L44M;ENSP00000434614:L44M;ENSP00000437339:L44M;ENSP00000432105:L44M	ENSP00000066544:L44M	L	-	1	2	CDC27	42604403	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.380000	0.34351	0.308000	0.22923	0.591000	0.81541	CTG	CDC27	-	NULL	ENSG00000004897		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0.00	35	0	G			45249404	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T
CELSR1	9620	genome.wustl.edu	37	22	46859657	46859657	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:46859657C>T	ENST00000262738.3	-	2	4129	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1377H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1377	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGCGGCAGCGGCCGTTGGC	0.682																																																	0													12.0	12.0	12.0					22																	46859657		2136	4163	6299	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4130G>A	22.37:g.46859657C>T	ENSP00000262738:p.Arg1377His		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1377H	ENST00000262738.3	37	c.4130	CCDS14076.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.990|8.990	0.977385|0.977385	0.18812|0.18812	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|D;D	.|0.87571	.|-2.27;-2.08	4.22|4.22	3.14|3.14	0.36123|0.36123	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.187285	.|0.30714	.|U	.|0.009036	T|T	0.76033|0.76033	0.3931|0.3931	L|L	0.28556|0.28556	0.865|0.865	0.28563|0.28563	N|N	0.911038|0.911038	.|B	.|0.25206	.|0.12	.|B	.|0.15870	.|0.014	T|T	0.63625|0.63625	-0.6595|-0.6595	5|10	.|0.21540	.|T	.|0.41	.|.	9.4169|9.4169	0.38528|0.38528	0.424:0.576:0.0:0.0|0.424:0.576:0.0:0.0	.|.	.|1377	.|Q9NYQ6	.|CELR1_HUMAN	T|H	752|1377	.|ENSP00000262738:R1377H;ENSP00000379293:R1377H	.|ENSP00000262738:R1377H	A|R	-|-	1|2	0|0	CELSR1|CELSR1	45238321|45238321	0.311000|0.311000	0.24536|0.24536	0.998000|0.998000	0.56505|0.56505	0.632000|0.632000	0.37999|0.37999	0.874000|0.874000	0.28065|0.28065	2.173000|2.173000	0.68751|0.68751	0.655000|0.655000	0.94253|0.94253	GCT|CGC	CELSR1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000075275		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0.00	56	0	C	NM_014246		46859657	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	57.78	19	26	SNP	0.967	T
CELSR2	1952	genome.wustl.edu	37	1	109816993	109816993	+	3'UTR	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:109816993delT	ENST00000271332.3	+	0	9155				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGGGATTCATTTTTTTTATA	0.448																																					NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001624	3_prime_UTR_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.*322T>-	1.37:g.109816993delT			Q5T2Y7|Q92566	RNA	DEL	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			CELSR2	-	-	ENSG00000143126		0.448	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	76	0	T	NM_001408		109816993	+1	tier1		no_errors	ENST00000498157	ensembl	human	known	74_37	rna	8.51	43	4	DEL	1.000	-
CFTR	1080	genome.wustl.edu	37	7	117235062	117235062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:117235062delA	ENST00000003084.6	+	15	2701	c.2569delA	c.(2569-2571)aagfs	p.K857fs	CFTR_ENST00000454343.1_Frame_Shift_Del_p.K796fs	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	857					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TACTGTCCACAAGAGCTTAAT	0.328									Cystic Fibrosis																																								0													147.0	137.0	141.0					7																	117235062		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2569delA	7.37:g.117235062delA	ENSP00000003084:p.Lys857fs		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.K857fs	ENST00000003084.6	37	c.2569	CCDS5773.1	7																																																																																			CFTR	-	superfamily_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	ENSG00000001626		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0.00	73	0	A	NM_000492		117235062	+1	tier1		no_errors	ENST00000003084	ensembl	human	known	74_37	frame_shift_del	16.98	88	18	DEL	1.000	-
CNGA3	1261	genome.wustl.edu	37	2	99012723	99012723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:99012723delA	ENST00000272602.2	+	7	1129	c.1090delA	c.(1090-1092)accfs	p.T365fs	CNGA3_ENST00000393504.1_Frame_Shift_Del_p.T365fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.T369fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.T347fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	365					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGACCCTTACCACCATTGG	0.522																																																	0													80.0	79.0	79.0					2																	99012723		2203	4300	6503	SO:0001589	frameshift_variant	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1090delA	2.37:g.99012723delA	ENSP00000272602:p.Thr365fs		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T364fs	ENST00000272602.2	37	c.1090	CCDS2034.1	2																																																																																			CNGA3	-	pfam_Ion_trans_dom	ENSG00000144191		0.522	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1		0.00	53	0	A	NM_001298		99012723	+1	tier1		no_errors	ENST00000272602	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-
CNN3	1266	genome.wustl.edu	37	1	95369076	95369076	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:95369076G>T	ENST00000370206.4	-	2	445	c.62C>A	c.(61-63)gCt>gAt	p.A21D	CNN3_ENST00000538964.1_Missense_Mutation_p.A21D|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.A21D|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	21				A -> S (in Ref. 2; BAG60421). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATACTTGGAAGCAATCTGAAA	0.443																																																	0													102.0	96.0	98.0					1																	95369076		2203	4300	6503	SO:0001583	missense	0			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.62C>A	1.37:g.95369076G>T	ENSP00000359225:p.Ala21Asp		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.A21D	ENST00000370206.4	37	c.62	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856778	0.71834	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	T;T;T	0.59083	0.29;0.29;0.29	5.85	5.85	0.93711	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.63208	1.945	0.80722	D	1	P;D	0.63880	0.866;0.993	P;D	0.76575	0.591;0.988	T	0.58399	-0.7643	10	0.19147	T	0.46	-8.0495	20.1649	0.98147	0.0:0.0:1.0:0.0	.	21;21	F8WA86;Q15417	.;CNN3_HUMAN	D	21	ENSP00000359225:A21D;ENSP00000437665:A21D;ENSP00000377752:A21D	ENSP00000359225:A21D	A	-	2	0	CNN3	95141664	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.753000	0.94483	0.655000	0.94253	GCT	CNN3	-	superfamily_CH-domain	ENSG00000117519		0.443	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	-	0.00	60	0	G	NM_001839		95369076	-1	tier1	-	no_errors	ENST00000370206	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T
CNTN1	1272	genome.wustl.edu	37	12	41353009	41353009	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:41353009T>C	ENST00000551295.2	+	15	1894	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P	CNTN1_ENST00000360099.3_Missense_Mutation_p.S593P|CNTN1_ENST00000347616.1_Missense_Mutation_p.S593P|CNTN1_ENST00000348761.2_Missense_Mutation_p.S582P|CNTN1_ENST00000547849.1_Missense_Mutation_p.S593P|CNTN1_ENST00000547702.1_Missense_Mutation_p.S593P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	593	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGACAATTCTTCAGCTTCAGC	0.388																																																	0													105.0	97.0	100.0					12																	41353009		2203	4300	6503	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1777T>C	12.37:g.41353009T>C	ENSP00000447006:p.Ser593Pro		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S593P	ENST00000551295.2	37	c.1777	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924895	0.73213	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147964	0.47455	D	0.000228	T	0.63271	0.2497	H	0.94925	3.6	0.43226	D	0.995116	D;D;D	0.63046	0.967;0.991;0.992	P;P;D	0.66497	0.747;0.907;0.944	T	0.73056	-0.4103	10	0.72032	D	0.01	.	11.6997	0.51564	0.1325:0.0:0.0:0.8675	.	593;582;593	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	P	593;593;593;593;593;582	ENSP00000448004:S593P;ENSP00000447006:S593P;ENSP00000448653:S593P;ENSP00000325660:S593P;ENSP00000353213:S593P;ENSP00000261160:S582P	ENSP00000325660:S593P	S	+	1	0	CNTN1	39639276	0.984000	0.35163	0.987000	0.45799	0.998000	0.95712	3.039000	0.49791	2.308000	0.77769	0.533000	0.62120	TCA	CNTN1	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000018236		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0.00	56	0	T	NM_001843		41353009	+1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.972	C
CNTN5	53942	genome.wustl.edu	37	11	100061915	100061915	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:100061915G>T	ENST00000524871.1	+	14	1928	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E546D|CNTN5_ENST00000527185.1_Missense_Mutation_p.E546D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E472D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E546D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	546	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATCAGACGAGGGAAAGTACG	0.383																																																	0													68.0	70.0	69.0					11																	100061915		1829	4078	5907	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1638G>T	11.37:g.100061915G>T	ENSP00000435637:p.Glu546Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E546D	ENST00000524871.1	37	c.1638	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925618	0.52759	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.52	2.64	0.31445	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.51853	1.615	0.51767	D	0.999932	D;D;D	0.59357	0.985;0.966;0.973	P;P;P	0.52031	0.688;0.561;0.688	T	0.63752	-0.6566	10	0.59425	D	0.04	.	7.5193	0.27618	0.4236:0.0:0.5764:0.0	.	546;472;546	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	546;546;546;472;546	ENSP00000433575:E546D;ENSP00000436185:E546D;ENSP00000435637:E546D;ENSP00000393229:E472D;ENSP00000279463:E546D	ENSP00000279463:E546D	E	+	3	2	CNTN5	99567125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.728000	0.38105	0.389000	0.25086	0.650000	0.86243	GAG	CNTN5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2		0.00	132	0	G	NM_014361		100061915	+1			no_errors	ENST00000279463	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
CPXM1	56265	genome.wustl.edu	37	20	2774891	2774891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:2774891delT	ENST00000380605.2	-	14	2214	c.2150delA	c.(2149-2151)aagfs	p.K717fs		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	717					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGGGGGCACCTTGGCCCCAGC	0.617																																																	0													38.0	42.0	41.0					20																	2774891		2203	4300	6503	SO:0001589	frameshift_variant	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2150delA	20.37:g.2774891delT	ENSP00000369979:p.Lys717fs		Q6P4G8|Q6UW65|Q9NUB5	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K717fs	ENST00000380605.2	37	c.2150	CCDS13033.1	20																																																																																			CPXM1	-	superfamily_CarboxyPept-like_regulatory	ENSG00000088882		0.617	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2		0.00	32	0	T	NM_019609		2774891	-1	tier1		no_errors	ENST00000380605	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.952	-
CPXM2	119587	genome.wustl.edu	37	10	125506371	125506371	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:125506371C>T	ENST00000241305.3	-	14	2334	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	727					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R727Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CATGATCTCTCGGATCCTGGC	0.572																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											110.0	103.0	105.0					10																	125506371		2203	4300	6503	SO:0001583	missense	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2180G>A	10.37:g.125506371C>T	ENSP00000241305:p.Arg727Gln		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.R727Q	ENST00000241305.3	37	c.2180	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828891	0.50845	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.14144	2.53	5.24	3.26	0.37387	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.109197	0.56097	D	0.000026	T	0.08758	0.0217	L	0.42245	1.32	0.47308	D	0.99938	B	0.34313	0.448	B	0.22880	0.042	T	0.16600	-1.0397	10	0.48119	T	0.1	-1.5386	4.4665	0.11691	0.0:0.5931:0.0:0.4069	.	727	Q8N436	CPXM2_HUMAN	Q	727;560;702	ENSP00000241305:R727Q	ENSP00000241305:R727Q	R	-	2	0	CPXM2	125496361	0.998000	0.40836	0.223000	0.23860	0.980000	0.70556	2.865000	0.48412	1.449000	0.47699	-0.136000	0.14681	CGA	CPXM2	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000121898		0.572	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1		0.00	43	0	C	NM_198148		125506371	-1			no_errors	ENST00000241305	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.640	T
CSF2RB	1439	genome.wustl.edu	37	22	37334389	37334389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:37334389G>T	ENST00000403662.3	+	14	2761	c.2539G>T	c.(2539-2541)Gag>Tag	p.E847*	CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.E853*|CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.E853*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.E794*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	847					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACCCGGTCCTGAGATCAAGAA	0.617																																																	0													103.0	124.0	117.0					22																	37334389		2203	4300	6503	SO:0001587	stop_gained	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2539G>T	22.37:g.37334389G>T	ENSP00000384053:p.Glu847*		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E853*	ENST00000403662.3	37	c.2557	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.314091	0.95655	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	5.54	3.46	0.39613	.	0.844482	0.09946	N	0.735322	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.6189	8.5768	0.33603	0.1772:0.0:0.8228:0.0	.	.	.	.	X	847;847;853;853;794	.	ENSP00000262825:E853X	E	+	1	0	CSF2RB	35664335	0.414000	0.25408	0.008000	0.14137	0.008000	0.06430	2.299000	0.43611	0.701000	0.31803	0.650000	0.86243	GAG	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.617	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1		0.00	76	0	G	NM_000395		37334389	+1			no_errors	ENST00000262825	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	0.022	T
CSMD1	64478	genome.wustl.edu	37	8	2975919	2975919	+	Splice_Site	SNP	A	A	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:2975919A>T	ENST00000520002.1	-	43	6989		c.e43+1		CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATGAACTTACCATCACATC	0.373																																																	0													104.0	97.0	99.0					8																	2975919		1954	4138	6092	SO:0001630	splice_region_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6433+1T>A	8.37:g.2975919A>T			Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	-	e43+2	ENST00000520002.1	37	c.6433+2		8	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001895	0.35320	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7337	0.69402	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2963326	1.000000	0.71417	0.907000	0.35723	0.047000	0.14425	9.036000	0.93758	1.927000	0.55829	0.460000	0.39030	.	CSMD1	-	-	ENSG00000183117		0.373	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	78	0	A	NM_033225	Intron	2975919	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	splice_site	32.20	40	19	SNP	1.000	T
CUX1	1523	genome.wustl.edu	37	7	101840007	101840007	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:101840007G>A	ENST00000292535.7	+	15	1354	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G439E|CUX1_ENST00000550008.2_Missense_Mutation_p.G439E|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G450E|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	439					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCAACCCGGGGGAGCAGGCT	0.597																																																	1	Substitution - Missense(1)	lung(1)											49.0	60.0	56.0					7																	101840007		2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1316G>A	7.37:g.101840007G>A	ENSP00000292535:p.Gly439Glu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.G450E	ENST00000292535.7	37	c.1349	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	2.638	-0.284835	0.05605	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008	T;T;T;T	0.60040	0.22;0.24;0.24;0.28	5.71	4.82	0.62117	.	0.203819	0.40640	N	0.001051	T	0.50497	0.1619	L	0.45137	1.4	0.80722	D	1	B;B	0.27997	0.125;0.197	B;B	0.30716	0.056;0.119	T	0.46048	-0.9219	10	0.32370	T	0.25	-28.7761	14.112	0.65126	0.0716:0.0:0.9284:0.0	.	439;450	P39880;P39880-3	CUX1_HUMAN;.	E	450;439;439;439	ENSP00000353401:G450E;ENSP00000292535:G439E;ENSP00000446630:G439E;ENSP00000447373:G439E	ENSP00000292535:G439E	G	+	2	0	CUX1	101626727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.286000	0.51724	2.691000	0.91804	0.561000	0.74099	GGG	CUX1	-	NULL	ENSG00000257923		0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0.00	75	0	G	NM_001913		101840007	+1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	11.54	45	6	SNP	1.000	A
DAPK1	1612	genome.wustl.edu	37	9	90322121	90322121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:90322121delA	ENST00000408954.3	+	26	4470	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	DAPK1_ENST00000469640.2_Frame_Shift_Del_p.K1404fs|DAPK1_ENST00000358077.5_Frame_Shift_Del_p.K1379fs|DAPK1_ENST00000472284.1_Frame_Shift_Del_p.K1379fs|DAPK1_ENST00000491893.1_Frame_Shift_Del_p.K1313fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1379	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTCATGTCCAAACTGAGGGA	0.602									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													35.0	38.0	37.0					9																	90322121		1914	4116	6030	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4135delA	9.37:g.90322121delA	ENSP00000386135:p.Lys1379fs		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.K1404fs	ENST00000408954.3	37	c.4210	CCDS43842.1	9																																																																																			DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.602	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0.00	43	0	A	NM_004938		90322121	+1	tier1		no_errors	ENST00000469640	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-
DCBLD2	131566	genome.wustl.edu	37	3	98620070	98620070	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:98620070C>T	ENST00000326840.6	-	1	463	c.101G>A	c.(100-102)cGc>cAc	p.R34H	CTD-2021J15.1_ENST00000474798.1_RNA|DCBLD2_ENST00000469648.1_5'Flank|DCBLD2_ENST00000326857.9_Missense_Mutation_p.R34H	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	34					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						agggagggagcgggagagggg	0.716																																																	0													9.0	10.0	10.0					3																	98620070		1739	3635	5374	SO:0001583	missense	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.101G>A	3.37:g.98620070C>T	ENSP00000321573:p.Arg34His		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.R34H	ENST00000326840.6	37	c.101	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666176	0.14710	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.90385	-2.66;-2.66	2.99	0.879	0.19155	.	2.333530	0.01971	N	0.044078	T	0.79964	0.4537	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68842	-0.5302	10	0.38643	T	0.18	3.4014	3.0959	0.06309	0.2625:0.5842:0.0:0.1533	.	34;34	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	H	34	ENSP00000321573:R34H;ENSP00000321646:R34H	ENSP00000321573:R34H	R	-	2	0	DCBLD2	100102760	0.387000	0.25188	0.006000	0.13384	0.329000	0.28539	0.242000	0.18087	0.585000	0.29608	0.398000	0.26397	CGC	DCBLD2	-	NULL	ENSG00000057019		0.716	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	-	0.00	23	0	C	NM_080927		98620070	-1	tier1	-	no_errors	ENST00000326857	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.000	T
DDX19B	11269	genome.wustl.edu	37	16	70363251	70363251	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:70363251C>T	ENST00000288071.6	+	8	909	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	DDX19B_ENST00000568625.1_Silent_p.L113L|DDX19B_ENST00000355992.3_Silent_p.L191L|DDX19B_ENST00000393657.2_Silent_p.L113L|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Silent_p.L227L|DDX19B_ENST00000451014.3_Silent_p.L196L|DDX19B_ENST00000563392.1_Silent_p.L113L	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	222	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGGGACTGTGCTGGACTGGTG	0.493																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0													129.0	114.0	119.0					16																	70363251		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.664C>T	16.37:g.70363251C>T			B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L222	ENST00000288071.6	37	c.664	CCDS10888.1	16																																																																																			DDX19B	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000157349		0.493	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3		0.00	98	0	C	NM_007242		70363251	+1			no_errors	ENST00000288071	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T
DENND3	22898	genome.wustl.edu	37	8	142204174	142204174	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:142204174G>T	ENST00000262585.2	+	23	3717	c.3439G>T	c.(3439-3441)Ggg>Tgg	p.G1147W	DENND3_ENST00000523308.1_Missense_Mutation_p.G197W|DENND3_ENST00000519811.1_Missense_Mutation_p.G1227W|DENND3_ENST00000424248.1_Missense_Mutation_p.G1095W	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1147					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AACACCCAAGGGGAAAATCTA	0.627																																																	0													76.0	74.0	75.0					8																	142204174		2203	4300	6503	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3439G>T	8.37:g.142204174G>T	ENSP00000262585:p.Gly1147Trp		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.G1147W	ENST00000262585.2	37	c.3439	CCDS34947.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351138|3.351138	0.61183|0.61183	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	.|T;T;T;T	.|0.51817	.|0.78;0.78;0.78;0.69	5.14|5.14	5.14|5.14	0.70334|0.70334	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048611|0.048611	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70298|0.70298	0.3208|0.3208	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.74472|0.74472	-0.3654|-0.3654	6|10	.|0.87932	.|D	.|0	-20.7942|-20.7942	18.6087|18.6087	0.91276|0.91276	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1227;1147	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	V|W	1151|1147;1095;1227;197	.|ENSP00000262585:G1147W;ENSP00000410594:G1095W;ENSP00000428714:G1227W;ENSP00000430912:G197W	.|ENSP00000262585:G1147W	G|G	+|+	2|1	0|0	DENND3|DENND3	142273356|142273356	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.112000|0.112000	0.19704|0.19704	4.874000|4.874000	0.63064|0.63064	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	GGG|GGG	DENND3	-	superfamily_WD40_repeat_dom	ENSG00000105339		0.627	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding			0.00	51	0	G	NM_014957		142204174	+1			no_errors	ENST00000262585	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
DHX29	54505	genome.wustl.edu	37	5	54579423	54579423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:54579423delC	ENST00000251636.5	-	11	1721	c.1573delG	c.(1573-1575)gaafs	p.E525fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	525						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACTAAATTTTCCCAAGATTCC	0.388																																																	0													119.0	119.0	119.0					5																	54579423		2203	4300	6503	SO:0001589	frameshift_variant	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1573delG	5.37:g.54579423delC	ENSP00000251636:p.Glu525fs		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Del	DEL	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E525fs	ENST00000251636.5	37	c.1573	CCDS34158.1	5																																																																																			DHX29	-	NULL	ENSG00000067248		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1		0.00	57	0	C	NM_019030		54579423	-1	tier1		no_errors	ENST00000251636	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-
DMXL2	23312	genome.wustl.edu	37	15	51773255	51773255	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:51773255G>T	ENST00000251076.5	-	24	6335	c.6048C>A	c.(6046-6048)gaC>gaA	p.D2016E	DMXL2_ENST00000449909.3_Missense_Mutation_p.D1380E|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2016E|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2016						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACATGTTAGGGTCTGAGGCCT	0.398																																																	0													163.0	160.0	161.0					15																	51773255		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6048C>A	15.37:g.51773255G>T	ENSP00000251076:p.Asp2016Glu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2016E	ENST00000251076.5	37	c.6048	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194608	0.22037	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77229	-1.08;-1.08;-1.08	5.65	0.0941	0.14479	.	0.242018	0.48286	N	0.000192	T	0.56140	0.1965	L	0.28115	0.83	0.31301	N	0.688319	B;P;B;B	0.49185	0.019;0.92;0.104;0.002	B;B;B;B	0.40982	0.012;0.345;0.069;0.006	T	0.58002	-0.7713	10	0.28530	T	0.3	.	2.6836	0.05101	0.1957:0.2218:0.4687:0.1138	.	2016;1380;2016;2016	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	E	2016;2016;1380	ENSP00000251076:D2016E;ENSP00000441858:D2016E;ENSP00000400855:D1380E	ENSP00000251076:D2016E	D	-	3	2	DMXL2	49560547	0.017000	0.18338	0.743000	0.31040	0.341000	0.28922	-0.120000	0.10660	0.008000	0.14787	0.650000	0.86243	GAC	DMXL2	-	NULL	ENSG00000104093		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0.00	55	0	G	NM_015263		51773255	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.813	T
DNAH5	1767	genome.wustl.edu	37	5	13737516	13737516	+	Missense_Mutation	SNP	C	C	T	rs138838869	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:13737516C>T	ENST00000265104.4	-	66	11404	c.11300G>A	c.(11299-11301)cGc>cAc	p.R3767H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767H(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTGTCAGGCGGTAAAGCAA	0.428									Kartagener syndrome																																								2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	188.0	171.0	177.0		11300	5.7	1.0	5	dbSNP_134	177	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	3767/4625	13737516	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11300G>A	5.37:g.13737516C>T	ENSP00000265104:p.Arg3767His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3767H	ENST00000265104.4	37	c.11300	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464920	0.84425	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.33654	1.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.94021	3.485	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.77164	-0.2688	10	0.87932	D	0	.	14.9446	0.71020	0.0:0.9298:0.0:0.0702	.	3767	Q8TE73	DYH5_HUMAN	H	3767	ENSP00000265104:R3767H	ENSP00000265104:R3767H	R	-	2	0	DNAH5	13790516	0.947000	0.32204	0.981000	0.43875	0.808000	0.45660	2.178000	0.42519	2.689000	0.91719	0.655000	0.94253	CGC	DNAH5	-	NULL	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	91	0	C	NM_001369		13737516	-1	tier1	rs138838869	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.55	79	23	SNP	0.985	T
DNAH6	1768	genome.wustl.edu	37	2	84785000	84785000	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:84785000A>C	ENST00000237449.6	+	10	1752	c.1744A>C	c.(1744-1746)Agt>Cgt	p.S582R	DNAH6_ENST00000389394.3_Missense_Mutation_p.S582R|DNAH6_ENST00000398278.2_Missense_Mutation_p.S582R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	582	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACTGGGCCAAGTTTAGCAGC	0.338																																																	0													90.0	89.0	89.0					2																	84785000		2203	4300	6503	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1744A>C	2.37:g.84785000A>C	ENSP00000237449:p.Ser582Arg		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S582R	ENST00000237449.6	37	c.1744	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736652	0.30774	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24908	1.83;1.96;1.83	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000007	T	0.37732	0.1014	M	0.61703	1.905	0.25994	N	0.982205	B;P	0.49783	0.134;0.928	B;P	0.53760	0.032;0.734	T	0.24657	-1.0154	10	0.18710	T	0.47	.	13.8456	0.63466	1.0:0.0:0.0:0.0	.	582;161	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	R	582	ENSP00000374045:S582R;ENSP00000381326:S582R;ENSP00000237449:S582R	ENSP00000237449:S582R	S	+	1	0	DNAH6	84638511	1.000000	0.71417	0.627000	0.29227	0.457000	0.32468	5.904000	0.69886	1.914000	0.55421	0.459000	0.35465	AGT	DNAH6	-	NULL	ENSG00000115423		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0.00	65	0	A	NM_001370		84785000	+1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	37.76	60	37	SNP	0.992	C
DUOX2	50506	genome.wustl.edu	37	15	45386802	45386803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:45386802_45386803insG	ENST00000603300.1	-	33	4684_4685	c.4482_4483insC	c.(4480-4485)cccttcfs	p.F1495fs	DUOX2_ENST00000389039.6_Frame_Shift_Ins_p.F1495fs	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1495					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AAGGGCTCGAAGGGGGGACGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4483dupC	15.37:g.45386808_45386808dupG	ENSP00000475084:p.Phe1495fs		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Frame_Shift_Ins	INS	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.F1494fs	ENST00000603300.1	37	c.4483_4482	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Fe_red_NAD-bd_6	ENSG00000140279		0.639	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding			0.00	80	0	-	NM_014080		45386803	-1	tier1		no_errors	ENST00000389039	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:0.997	G
DYNC2H1	79659	genome.wustl.edu	37	11	103047022	103047022	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:103047022G>A	ENST00000375735.2	+	37	5877	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	DYNC2H1_ENST00000398093.3_Silent_p.T1911T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1911					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTTTACGTTTACTGATT	0.323																																																	0													84.0	77.0	79.0					11																	103047022		1820	4079	5899	SO:0001819	synonymous_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5733G>A	11.37:g.103047022G>A			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1911	ENST00000375735.2	37	c.5733	CCDS53701.1	11																																																																																			DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	83	0	G	XM_370652		103047022	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	65.79	13	25	SNP	0.991	A
EFTUD1P1	648809	genome.wustl.edu	37	15	84753004	84753004	+	RNA	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:84753004C>T	ENST00000558187.1	+	0	312									elongation factor Tu GTP binding domain containing 1 pseudogene 1																		TCATCTCCAGCCACCTAGCAG	0.353																																																	0																																												0					15q25.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000259404	ENSG00000259404			31739	pseudogene	pseudogene	"""similar to hypothetical protein FLJ13119"""		"""family with sequence similarity 42, member B"""	FAM42B			Standard	NR_036652		Approved	HsT19321	uc021stg.1		OTTHUMG00000172493		15.37:g.84753004C>T				RNA	SNP	-	NULL	ENST00000558187.1	37	NULL		15																																																																																			EFTUD1P1	-	-	ENSG00000259404		0.353	EFTUD1P1-001	KNOWN	basic	processed_transcript	EFTUD1P1	HGNC	pseudogene	OTTHUMT00000418794.1		0.00	83	0	C	NR_036652		84753004	+1			no_errors	ENST00000558187	ensembl	human	known	74_37	rna	5.00	76	4	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140707604	140707604	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:140707604C>T	ENST00000460843.1	+	20	3041	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1005					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCCCAGCCCCGTGGAGAGG	0.637																																																	0													29.0	34.0	32.0					9																	140707604		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3014C>T	9.37:g.140707604C>T	ENSP00000417980:p.Pro1005Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P1005L	ENST00000460843.1	37	c.3014	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149547	0.09185	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.88124	-2.34	4.69	2.46	0.29980	.	0.495006	0.22892	N	0.054377	T	0.66446	0.2790	N	0.04508	-0.205	0.21147	N	0.999774	B	0.02656	0.0	B	0.01281	0.0	T	0.51888	-0.8648	10	0.19590	T	0.45	.	4.3048	0.10942	0.2924:0.5056:0.0:0.2021	.	1005	Q9H9B1	EHMT1_HUMAN	L	974;1005	ENSP00000417980:P1005L	ENSP00000360453:P974L	P	+	2	0	EHMT1	139827425	0.106000	0.21978	0.008000	0.14137	0.287000	0.27160	1.850000	0.39328	1.070000	0.40811	0.655000	0.94253	CCC	EHMT1	-	NULL	ENSG00000181090		0.637	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0.00	47	0	C	NM_024757		140707604	+1			no_errors	ENST00000460843	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.008	T
KHSRP	8570	genome.wustl.edu	37	19	6411866	6411866	+	IGR	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:6411866G>A	ENST00000398148.3	-	0	2993				CTB-180A7.8_ENST00000398173.3_lincRNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCTTGGACACGCACTATACCT	0.612																																					Colon(55;593 1006 2067 9135 22980)												0																																										SO:0001628	intergenic_variant	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6411866G>A			O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	RNA	SNP	-	NULL	ENST00000398148.3	37	NULL	CCDS45936.1	19																																																																																			CTB-180A7.8	-	-	ENSG00000214347		0.612	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214347	Clone_based_vega_gene	protein_coding	OTTHUMT00000453305.1	-	0.00	49	0	G			6411866	+1	tier1	-	no_errors	ENST00000398173	ensembl	human	known	74_37	rna	33.33	16	8	SNP	0.008	A
AC105242.1	0	genome.wustl.edu	37	8	78199114	78199133	+	RNA	DEL	CAGGGGGAACTGGGAGCATT	CAGGGGGAACTGGGAGCATT	-	rs72579714	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	CAGGGGGAACTGGGAGCATT	CAGGGGGAACTGGGAGCATT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:78199114_78199133delCAGGGGGAACTGGGAGCATT	ENST00000410402.3	+	0	63_80																											tccatagagccagggggaactgggagcattcagggggaac	0.577														392	0.0782748	0.1278	0.0764	5008	,	,		22251	0.0		0.1262	False		,,,				2504	0.044																0																																												0																															8.37:g.78199114_78199133delCAGGGGGAACTGGGAGCATT				RNA	DEL	-	NULL	ENST00000410402.3	37	NULL		8																																																																																			AC105242.1	-	-	ENSG00000222334		0.577	AC105242.1-201	NOVEL	basic	miRNA	ENSG00000222334	Clone_based_ensembl_gene	miRNA			0.00	16	0	CAGGGGGAACTGGGAGCATT			78199133	+1			no_errors	ENST00000410402	ensembl	human	novel	74_37	rna	33.33	4	2	DEL	0.006:0.006:0.004:0.003:0.002:0.001:0.002:0.005:0.008:0.016:0.022:0.026:0.030:0.032:0.032:0.032:0.031:0.028:0.024:0.018	0
CTC-367F4.1	0	genome.wustl.edu	37	5	144608356	144608356	+	lincRNA	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:144608356C>T	ENST00000504204.1	-	0	189																											CGGGAACTCACGCCTCCAATC	0.567																																																	0																																												0																															5.37:g.144608356C>T				RNA	SNP	-	NULL	ENST00000504204.1	37	NULL		5																																																																																			CTC-367F4.1	-	-	ENSG00000251031		0.567	CTC-367F4.1-001	KNOWN	basic	lincRNA	ENSG00000251031	Clone_based_vega_gene	lincRNA	OTTHUMT00000372800.1	-	0.00	36	0	C			144608356	-1	tier1	-	no_errors	ENST00000504204	ensembl	human	known	74_37	rna	20.00	12	3	SNP	0.261	T
RP11-690I21.2	0	genome.wustl.edu	37	2	232677017	232677018	+	RNA	INS	-	-	A	rs532945700		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:232677017_232677018insA	ENST00000563949.1	+	0	2462_2463																											TTGACTTGCTGAAAAAAAAAAA	0.371																																																	0																																												0																															2.37:g.232677028_232677028dupA				RNA	INS	-	NULL	ENST00000563949.1	37	NULL		2																																																																																			RP11-690I21.2	-	-	ENSG00000261096		0.371	RP11-690I21.2-001	KNOWN	basic	sense_overlapping	ENSG00000261096	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000431716.1		0.00	23	0	-			232677018	+1	tier1		no_errors	ENST00000563949	ensembl	human	known	74_37	rna	22.73	17	5	INS	0.014:0.017	A
ITPRIPL2	162073	genome.wustl.edu	37	16	19132177	19132177	+	3'UTR	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:19132177C>T	ENST00000381440.3	+	0	6924				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCAGAGCATCTCATGTAACC	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*4786C>T	16.37:g.19132177C>T				RNA	SNP	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-	ENSG00000261759		0.443	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	-	0.00	63	0	C	NM_001034841		19132177	-1	tier1	-	no_errors	ENST00000567236	ensembl	human	known	74_37	rna	18.42	31	7	SNP	0.001	T
ITPRIPL2	162073	genome.wustl.edu	37	16	19132482	19132483	+	3'UTR	DNP	GA	GA	TT			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:19132482_19132483GA>TT	ENST00000381440.3	+	0	7229_7230				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGAATGTGTGACTATGTATAC	0.307																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		Exception_encountered	16.37:g.19132482_19132483delinsTT				RNA	SNP	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-	ENSG00000261759		0.307	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	-	0.00	44|45	0	G|A	NM_001034841		19132482|19132483	-1	tier1	-	no_errors	ENST00000567236	ensembl	human	known	74_37	rna	41.67|44.44	20	15|16	SNP	0.000	T
MRPL4	51073	genome.wustl.edu	37	19	10369804	10369804	+	Intron	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10369804delT	ENST00000253099.6	+	8	1026				MRPL4_ENST00000307422.5_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_Intron	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		aaaaaaaaGCTCCAAAGTCAC	0.493																																																	0																																										SO:0001627	intron_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.739+443T>-	19.37:g.10369804delT			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	RNA	DEL	-	NULL	ENST00000253099.6	37	NULL	CCDS12230.1	19																																																																																			CTD-2369P2.4	-	-	ENSG00000267105		0.493	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267105	Clone_based_vega_gene	protein_coding	OTTHUMT00000451197.1		0.00	23	0	T			10369804	-1	tier1		no_errors	ENST00000587088	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.001	-
ENTPD5	957	genome.wustl.edu	37	14	74433702	74433702	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:74433702T>C	ENST00000334696.6	-	16	1535	c.1216A>G	c.(1216-1218)Aac>Gac	p.N406D	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	406					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTATGTTGTTCACTTTCTTT	0.483																																																	0													132.0	112.0	118.0					14																	74433702		2203	4300	6503	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1216A>G	14.37:g.74433702T>C	ENSP00000335246:p.Asn406Asp		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.N406D	ENST00000334696.6	37	c.1216	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407408	0.62399	.	.	ENSG00000187097	ENST00000334696	T	0.11063	2.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	N	0.04768	-0.165	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.33548	-0.9864	10	0.08599	T	0.76	-31.1696	13.5657	0.61817	0.0:0.0:0.0:1.0	.	406	O75356	ENTP5_HUMAN	D	406	ENSP00000335246:N406D	ENSP00000335246:N406D	N	-	1	0	ENTPD5	73503455	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.108000	0.77055	2.131000	0.65755	0.379000	0.24179	AAC	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.483	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	-	0.00	43	0	T	NM_001249		74433702	-1	tier1	-	no_errors	ENST00000334696	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	C
EPAS1	2034	genome.wustl.edu	37	2	46583907	46583907	+	Silent	SNP	C	C	T	rs374636224		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:46583907C>T	ENST00000263734.3	+	4	924	c.414C>T	c.(412-414)tgC>tgT	p.C138C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	138	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCATCCCTGCGACCATGAGG	0.443																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	151.0	143.0	146.0		414	-2.8	1.0	2		146	0,8600		0,0,4300	no	coding-synonymous	EPAS1	NM_001430.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		138/871	46583907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.414C>T	2.37:g.46583907C>T			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.C138	ENST00000263734.3	37	c.414	CCDS1825.1	2																																																																																			EPAS1	-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS	ENSG00000116016		0.443	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0.00	64	0	C	NM_001430		46583907	+1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.981	T
EPHA10	284656	genome.wustl.edu	37	1	38197200	38197200	+	Missense_Mutation	SNP	C	C	T	rs375016026		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:38197200C>T	ENST00000373048.4	-	7	1545	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I	EPHA10_ENST00000540011.1_Missense_Mutation_p.V11I|EPHA10_ENST00000330210.7_Missense_Mutation_p.V11I|EPHA10_ENST00000427468.2_Missense_Mutation_p.V516I|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGTTGGTGACGGTGACTGTG	0.597																																																	0								C	ILE/VAL	1,3893		0,1,1946	107.0	108.0	108.0		1546	4.8	1.0	1		108	0,8288		0,0,4144	no	missense	EPHA10	NM_001099439.1	29	0,1,6090	TT,TC,CC		0.0,0.0257,0.0082	possibly-damaging	516/1009	38197200	1,12181	1947	4144	6091	SO:0001583	missense	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1546G>A	1.37:g.38197200C>T	ENSP00000362139:p.Val516Ile		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V516I	ENST00000373048.4	37	c.1546	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	5.735	0.320141	0.10845	2.57E-4	0.0	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.76839	-1.05;0.28;-1.05;0.28	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38778	N	0.001566	T	0.67822	0.2934	L	0.31420	0.93	0.30957	N	0.72404	P	0.45986	0.87	B	0.40134	0.32	T	0.70528	-0.4847	9	.	.	.	.	16.5064	0.84273	0.0:1.0:0.0:0.0	.	516	Q5JZY3	EPHAA_HUMAN	I	11;516;11;516	ENSP00000330379:V11I;ENSP00000397746:V516I;ENSP00000441822:V11I;ENSP00000362139:V516I	.	V	-	1	0	EPHA10	37969787	0.855000	0.29742	0.980000	0.43619	0.310000	0.27922	1.549000	0.36212	2.459000	0.83118	0.563000	0.77884	GTC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000183317		0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2		0.00	38	0	C	NM_173641		38197200	-1			no_errors	ENST00000427468	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.982	T
EPHA7	2045	genome.wustl.edu	37	6	93965557	93965558	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:93965557_93965558AG>GA	ENST00000369303.4	-	13	2554_2555	c.2370_2371CT>TC	c.(2368-2373)gtCTat>gtTCat	p.Y791H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGTTGTATAGACAGCTTCTG	0.386																																																	0																																										SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2370_2371delinsGA	6.37:g.93965557_93965558delinsGA	ENSP00000358309:p.Tyr791His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation|Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y791H|p.V790	ENST00000369303.4	37	c.2371|c.2370	CCDS5031.1	6																																																																																			EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.386	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0.00	61	0	A|G			93965557|93965558	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense|silent	82.35	3	14	SNP	1.000	G|A
ERBB4	2066	genome.wustl.edu	37	2	212285327	212285327	+	Missense_Mutation	SNP	G	G	T	rs143134749		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:212285327G>T	ENST00000342788.4	-	25	3284	c.2974C>A	c.(2974-2976)Cgt>Agt	p.R992S	ERBB4_ENST00000436443.1_Missense_Mutation_p.R992S|ERBB4_ENST00000402597.1_Missense_Mutation_p.R982S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	992					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGCTTCATACGATCATCACCC	0.368										TSP Lung(8;0.080)																																							0													78.0	76.0	77.0					2																	212285327		2203	4299	6502	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2974C>A	2.37:g.212285327G>T	ENSP00000342235:p.Arg992Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R992S	ENST00000342788.4	37	c.2974	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016635	0.54468	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.61627	0.09;0.09;0.09	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.051262	0.85682	D	0.000000	T	0.53981	0.1830	M	0.61703	1.905	0.58432	D	0.999997	P;P;P;P	0.42620	0.785;0.722;0.785;0.679	B;B;B;B	0.31614	0.111;0.133;0.111;0.052	T	0.58025	-0.7709	10	0.38643	T	0.18	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	982;982;992;992	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	992;992;982	ENSP00000342235:R992S;ENSP00000403204:R992S;ENSP00000385565:R982S	ENSP00000342235:R992S	R	-	1	0	ERBB4	211993572	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.520000	0.73773	2.780000	0.95670	0.655000	0.94253	CGT	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom	ENSG00000178568		0.368	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0.00	40	0	G	NM_001042599		212285327	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
EXO1	9156	genome.wustl.edu	37	1	242052807	242052807	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:242052807C>A	ENST00000366548.3	+	16	3039	c.2446C>A	c.(2446-2448)Cca>Aca	p.P816T	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.P816T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	816	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.P816T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACCCCTGTCCCCAGTCAGAGA	0.363								Editing and processing nucleases																																									1	Substitution - Missense(1)	large_intestine(1)											87.0	89.0	88.0					1																	242052807		2203	4300	6503	SO:0001583	missense	0			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2446C>A	1.37:g.242052807C>A	ENSP00000355506:p.Pro816Thr		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.P816T	ENST00000366548.3	37	c.2446	CCDS1620.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.88|19.88	3.909106|3.909106	0.72868|0.72868	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000521202|ENST00000366548;ENST00000348581	.|T;T	.|0.58210	.|0.35;0.35	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72366|0.72366	0.3451|0.3451	M|M	0.69823|0.69823	2.125|2.125	0.45108|0.45108	D|D	0.998128|0.998128	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	T|T	0.74680|0.74680	-0.3584|-0.3584	6|10	.|0.87932	.|D	.|0	-26.1007|-26.1007	16.7056|16.7056	0.85371|0.85371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|815;816	.|A8K5H6;Q9UQ84	.|.;EXO1_HUMAN	H|T	180|816	.|ENSP00000355506:P816T;ENSP00000311873:P816T	.|ENSP00000311873:P816T	P|P	+|+	2|1	0|0	EXO1|EXO1	240119430|240119430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	4.434000|4.434000	0.59935|0.59935	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CCC|CCA	EXO1	-	NULL	ENSG00000174371		0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1		0.00	59	0	C	NM_006027		242052807	+1			no_errors	ENST00000348581	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
F11	2160	genome.wustl.edu	37	4	187192834	187192834	+	Missense_Mutation	SNP	G	G	A	rs281875264		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:187192834G>A	ENST00000403665.2	+	3	479	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	F11_ENST00000264692.4_Missense_Mutation_p.A43T|F11_ENST00000492972.2_Missense_Mutation_p.A43T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	43	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.		A -> T (in FA11D; dominant-negative mutation that results in severely decreased protein secretion; dbSNP:rs281875264). {ECO:0000269|PubMed:21457405}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.A43S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACACCAAGCGCCAAGTACTG	0.488																																																	1	Substitution - Missense(1)	lung(1)											199.0	156.0	171.0					4																	187192834		2203	4300	6503	SO:0001583	missense	0			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.127G>A	4.37:g.187192834G>A	ENSP00000384957:p.Ala43Thr		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.A43T	ENST00000403665.2	37	c.127	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420074	0.42918	.	.	ENSG00000088926	ENST00000403665;ENST00000264692;ENST00000492972	D;D;D	0.89746	-2.56;-2.56;-2.56	6.17	3.53	0.40419	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.225652	0.38959	N	0.001513	D	0.92844	0.7724	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.72032	D	0.01	.	8.7548	0.34639	0.1294:0.0:0.7461:0.1245	.	43	P03951	FA11_HUMAN	T	43	ENSP00000384957:A43T;ENSP00000264692:A43T;ENSP00000424479:A43T	ENSP00000264692:A43T	A	+	1	0	F11	187429828	0.231000	0.23751	0.004000	0.12327	0.003000	0.03518	1.842000	0.39250	0.481000	0.27557	-0.181000	0.13052	GCC	F11	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app	ENSG00000088926		0.488	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4		0.00	79	0	G			187192834	+1			no_errors	ENST00000403665	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.012	A
FAM134A	79137	genome.wustl.edu	37	2	220043663	220043663	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:220043663C>T	ENST00000430297.2	+	2	437	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	CNPPD1_ENST00000409789.1_5'Flank|CNPPD1_ENST00000360507.5_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	101						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCGTCCCTCCGGCCCTT	0.547																																																	0													326.0	260.0	282.0					2																	220043663		2203	4300	6503	SO:0001583	missense	0			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.301C>T	2.37:g.220043663C>T	ENSP00000395249:p.Leu101Phe		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.L101F	ENST00000430297.2	37	c.301	CCDS2434.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624243	0.87560	.	.	ENSG00000144567	ENST00000430297	T	0.53423	0.62	4.72	3.84	0.44239	.	0.073033	0.56097	D	0.000022	T	0.44973	0.1319	M	0.66939	2.045	0.44492	D	0.997433	B	0.06786	0.001	B	0.12837	0.008	T	0.41360	-0.9513	10	0.52906	T	0.07	-5.0426	9.7376	0.40397	0.0:0.9022:0.0:0.0978	.	101	Q8NC44	F134A_HUMAN	F	101	ENSP00000395249:L101F	ENSP00000273048:L101F	L	+	1	0	FAM134A	219751907	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.665000	0.46791	0.964000	0.38108	0.561000	0.74099	CTC	FAM134A	-	pfam_Reticulon	ENSG00000144567		0.547	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	-	0.00	47	0	C	NM_024293		220043663	+1	tier1	-	no_errors	ENST00000430297	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	T
FAM230B	642633	genome.wustl.edu	37	22	21538269	21538269	+	RNA	SNP	C	C	G	rs368639375		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:21538269C>G	ENST00000451257.1	+	0	1255									family with sequence similarity 230, member B (non-protein coding)																		GCATCGCCAACGAGGACGCCG	0.726																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538269C>G				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.726	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1	-	0.00	32	0	C	NR_108107		21538269	+1	tier1	-	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	11.63	38	5	SNP	0.000	G
FBXO11	80204	genome.wustl.edu	37	2	48132691	48132693	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:48132691_48132693delGCT	ENST00000403359.3	-	1	239_241	c.167_169delAGC	c.(166-171)cagcct>cct	p.Q56del	FBXO11_ENST00000316377.4_5'UTR|FBXO11_ENST00000378314.3_5'UTR|AC079807.2_ENST00000432064.1_RNA|AC079807.2_ENST00000439870.1_RNA|AC079807.2_ENST00000417692.1_RNA	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	56					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ggcggcggAggctgctgctgctg	0.783			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001651	inframe_deletion	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.167_169delAGC	2.37:g.48132700_48132702delGCT	ENSP00000384823:p.Gln56del		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	In_Frame_Del	DEL	pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.Q56in_frame_del	ENST00000403359.3	37	c.169_167	CCDS54357.1	2																																																																																			FBXO11	-	NULL	ENSG00000138081		0.783	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3		0.00	8	0	GCT	NM_012167, NM_018693, NM_025133		48132693	-1			no_errors	ENST00000403359	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.983:0.981:0.972	0
FBXO45	200933	genome.wustl.edu	37	3	196311080	196311080	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:196311080G>T	ENST00000311630.6	+	3	1049	c.752G>T	c.(751-753)gGg>gTg	p.G251V	FBXO45_ENST00000440469.1_Missense_Mutation_p.G72V	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	251	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGTTCCTGGGGGTTGCTTTT	0.408																																																	0													123.0	120.0	121.0					3																	196311080		1857	4088	5945	SO:0001583	missense	0			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.752G>T	3.37:g.196311080G>T	ENSP00000310332:p.Gly251Val		A6NF90|D3DXB5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom	p.G251V	ENST00000311630.6	37	c.752	CCDS46985.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985906	0.74589	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.68765	-0.35;-0.35	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90539	0.4501	10	0.87932	D	0	-8.4135	18.7709	0.91892	0.0:0.0:1.0:0.0	.	251	P0C2W1	FBSP1_HUMAN	V	72;251	ENSP00000389868:G72V;ENSP00000310332:G251V	ENSP00000310332:G251V	G	+	2	0	FBXO45	197795477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GGG	FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000174013		0.408	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	-	0.00	38	0	G			196311080	+1	tier1	-	no_errors	ENST00000311630	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T
FCGR2B	2213	genome.wustl.edu	37	1	161641441	161641441	+	Splice_Site	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:161641441T>C	ENST00000358671.5	+	3	472		c.e3+2		FCGR2B_ENST00000236937.9_Splice_Site|FCGR2B_ENST00000367962.4_Splice_Site|FCGR2B_ENST00000367960.5_Splice_Site|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Splice_Site|FCGR2B_ENST00000367961.4_Splice_Site|FCGR2B_ENST00000428605.2_Splice_Site	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTTTCTGGTCAGTGGAGGA	0.597			T	?	ALL																																			Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	0													39.0	40.0	40.0					1																	161641441		2203	4298	6501	SO:0001630	splice_region_variant	0			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.391+2T>C	1.37:g.161641441T>C			A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Splice_Site	SNP	-	e3+2	ENST00000358671.5	37	c.391+2	CCDS30924.1	1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.176798	0.38413	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2477	0.43352	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FCGR2B	159908065	1.000000	0.71417	0.991000	0.47740	0.432000	0.31715	2.432000	0.44784	1.674000	0.50907	0.379000	0.24179	.	FCGR2B	-	-	ENSG00000072694		0.597	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4	-	0.00	81	0	T	NM_004001	Intron	161641441	+1	tier1	-	no_errors	ENST00000358671	ensembl	human	known	74_37	splice_site	39.44	86	56	SNP	0.995	C
FITM1	161247	genome.wustl.edu	37	14	24601848	24601848	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:24601848G>T	ENST00000267426.5	+	2	984	c.695G>T	c.(694-696)tGg>tTg	p.W232L	FITM1_ENST00000559294.1_Missense_Mutation_p.W36L	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	232					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTGGGCCTCTGGAACTTCTTG	0.607																																																	0													102.0	87.0	92.0					14																	24601848		2203	4300	6503	SO:0001583	missense	0				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.695G>T	14.37:g.24601848G>T	ENSP00000267426:p.Trp232Leu		Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.W232L	ENST00000267426.5	37	c.695	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	g	15.10	2.734302	0.48939	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.87097	2.86	0.80722	D	1	P	0.45902	0.868	P	0.49502	0.613	T	0.77292	-0.2642	9	0.72032	D	0.01	-3.5328	9.6298	0.39772	0.0954:0.0:0.9046:0.0	.	232	A5D6W6	FITM1_HUMAN	L	232	.	ENSP00000267426:W232L	W	+	2	0	FITM1	23671688	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.545000	0.73883	2.367000	0.80283	0.462000	0.41574	TGG	FITM1	-	pfam_FIT	ENSG00000139914		0.607	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1		0.00	38	0	G	NM_203402		24601848	+1			no_errors	ENST00000267426	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79295323	79295323	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:79295323G>A	ENST00000325942.6	+	25	3509	c.3069G>A	c.(3067-3069)ggG>ggA	p.G1023G	FRAS1_ENST00000264895.6_Silent_p.G1023G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1023			G -> E (in dbSNP:rs17459809).		cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGCAAAGGGCCATTTCTCC	0.502																																																	0													121.0	118.0	119.0					4																	79295323		1939	4154	6093	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3069G>A	4.37:g.79295323G>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.G1023	ENST00000325942.6	37	c.3069	CCDS54772.1	4																																																																																			FRAS1	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000138759		0.502	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2		0.00	97	0	G			79295323	+1			no_errors	ENST00000264895	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.123	A
FRMD4A	55691	genome.wustl.edu	37	10	13838554	13838554	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:13838554C>T	ENST00000357447.2	-	5	609	c.241G>A	c.(241-243)Gta>Ata	p.V81I	FRMD4A_ENST00000342409.2_Missense_Mutation_p.V97I|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V81I|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V66I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	81	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTTCCAATACTCTTCGATCT	0.403																																																	0													145.0	143.0	144.0					10																	13838554		2203	4300	6503	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.241G>A	10.37:g.13838554C>T	ENSP00000350032:p.Val81Ile		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.V81I	ENST00000357447.2	37	c.241	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578170	0.86645	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.87	4.87	0.63330	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	L	0.41573	1.285	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.995;0.992;0.998	T	0.75513	-0.3291	10	0.21014	T	0.42	-14.5135	14.9407	0.70992	0.0:1.0:0.0:0.0	.	97;114;81	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	I	66;81;81;114;97	ENSP00000351438:V66I;ENSP00000350032:V81I;ENSP00000367764:V81I;ENSP00000264546:V114I;ENSP00000344237:V97I	ENSP00000264546:V114I	V	-	1	0	FRMD4A	13878560	1.000000	0.71417	0.930000	0.37139	0.877000	0.50540	6.725000	0.74752	2.244000	0.73946	0.462000	0.41574	GTA	FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000151474		0.403	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0.00	54	0	C	NM_018027		13838554	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	14.29	29	5	SNP	1.000	T
FRMD4B	23150	genome.wustl.edu	37	3	69242853	69242853	+	Nonsense_Mutation	SNP	C	C	A	rs200039017		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:69242853C>A	ENST00000398540.3	-	17	1743	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	FRMD4B_ENST00000478263.1_Nonsense_Mutation_p.E206*|FRMD4B_ENST00000542259.1_Nonsense_Mutation_p.E500*	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	554					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATTCGGTATTCGTTTATTGCA	0.388																																																	0													163.0	143.0	149.0					3																	69242853		1852	4091	5943	SO:0001587	stop_gained	0			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1660G>T	3.37:g.69242853C>A	ENSP00000381549:p.Glu554*		Q8TAI3	Nonsense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E554*	ENST00000398540.3	37	c.1660	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.441547	0.98286	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	.	.	.	5.68	4.81	0.61882	.	0.273558	0.38897	N	0.001533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-25.4787	14.0679	0.64841	0.0:0.9282:0.0:0.0718	.	.	.	.	X	554;500;206	.	ENSP00000381549:E554X	E	-	1	0	FRMD4B	69325543	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.934000	0.56553	2.694000	0.91930	0.585000	0.79938	GAA	FRMD4B	-	NULL	ENSG00000114541		0.388	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	-	0.00	77	0	C			69242853	-1	tier1	-	no_errors	ENST00000398540	ensembl	human	known	74_37	nonsense	17.78	37	8	SNP	1.000	A
FUS	2521	genome.wustl.edu	37	16	31199660	31199660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:31199660G>T	ENST00000254108.7	+	8	919	c.814G>T	c.(814-816)Gga>Tga	p.G272*	FUS_ENST00000380244.3_Nonsense_Mutation_p.G271*|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Nonsense_Mutation_p.G272*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	272					cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TCGGGACCAAGGATCACGTCA	0.413			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													91.0	93.0	93.0					16																	31199660		2197	4300	6497	SO:0001587	stop_gained	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.814G>T	16.37:g.31199660G>T	ENSP00000254108:p.Gly272*		Q9H4A8	Nonsense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G272*	ENST00000254108.7	37	c.814	CCDS10707.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.313231|6.313231	0.97467|0.97467	.|.	.|.	ENSG00000089280|ENSG00000089280	ENST00000254108;ENST00000394533|ENST00000380244	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73110	.|0.3545	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78529	.|-0.2169	.|4	0.87932|0.54805	D|T	0|0.06	-3.7451|-3.7451	15.4617|15.4617	0.75363|0.75363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	272;201|33	.|.	ENSP00000254108:G272X|ENSP00000369594:K33N	G|K	+|+	1|3	0|2	FUS|FUS	31107161|31107161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.702000|5.702000	0.68332|0.68332	2.373000|2.373000	0.80994|0.80994	0.491000|0.491000	0.48974|0.48974	GGA|AAG	FUS	-	NULL	ENSG00000089280		0.413	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0.00	16	0	G	NM_004960		31199660	+1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	nonsense	36.36	7	4	SNP	1.000	T
GABRA3	2556	genome.wustl.edu	37	X	151419621	151419621	+	Intron	SNP	T	T	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:151419621T>A	ENST00000370314.4	-	5	790				GABRA3_ENST00000535043.1_Intron|RNU6-764P_ENST00000516396.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCATCATGCTTCTGTGCTTC	0.438																																					NSCLC(142;2578 2613 10251 16743)												0																																										SO:0001627	intron_variant	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.551+4628A>T	X.37:g.151419621T>A			Q8TAF9	RNA	SNP	-	NULL	ENST00000370314.4	37	NULL	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	T	9.603	1.129310	0.21041	.	.	ENSG00000011677	ENST00000417858	T	0.78707	-1.2	3.97	2.79	0.32731	.	.	.	.	.	T	0.74512	0.3726	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65672	-0.6111	6	0.87932	D	0	.	5.9085	0.19014	0.0:0.1297:0.0:0.8703	.	.	.	.	C	83	ENSP00000413772:S83C	ENSP00000413772:S83C	S	-	1	0	GABRA3	151170277	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.160000	0.16462	0.373000	0.24621	-0.816000	0.03127	AGC	GABRA3	-	-	ENSG00000011677		0.438	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	-	0.00	30	0	T	NM_000808		151419621	-1	tier1	-	no_errors	ENST00000417858	ensembl	human	known	74_37	rna	62.07	11	18	SNP	0.002	A
GADD45B	4616	genome.wustl.edu	37	19	2477067	2477069	+	In_Frame_Del	DEL	GAG	GAG	-	rs374601376		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:2477067_2477069delGAG	ENST00000215631.4	+	3	419_421	c.187_189delGAG	c.(187-189)gagdel	p.E66del	GADD45B_ENST00000587345.1_In_Frame_Del_p.E66del	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	66					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		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)		GGCCATTGACGAGGAGGAGGAGG	0.626											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0										133,4131		63,7,2062						-3.5	0.7			73	573,7681		277,19,3831	no	coding	GADD45B	NM_015675.3		340,26,5893	A1A1,A1R,RR		6.9421,3.1191,5.6399				706,11812				SO:0001651	inframe_deletion	0			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"""myeloid differentiation primary response"", ""growth arrest and DNA-damage-inducible beta"""	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.187_189delGAG	19.37:g.2477076_2477078delGAG	ENSP00000215631:p.Glu66del	603	A8KAM2|O75960|Q17R46	In_Frame_Del	DEL	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.E66in_frame_del	ENST00000215631.4	37	c.187_189	CCDS32868.1	19																																																																																			GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000099860		0.626	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1		0.00	39	0	GAG	NM_015675		2477069	+1	tier1		no_errors	ENST00000215631	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	1.000:1.000:1.000	-
GATA3	2625	genome.wustl.edu	37	10	8097786	8097786	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:8097786A>C	ENST00000346208.3	+	2	623	c.168A>C	c.(166-168)caA>caC	p.Q56H	GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.Q56H|RP11-379F12.3_ENST00000458727.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	56					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGACGGTCAAGGCAACCACG	0.672			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													36.0	30.0	32.0					10																	8097786		2198	4295	6493	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.168A>C	10.37:g.8097786A>C	ENSP00000341619:p.Gln56His		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.Q56H	ENST00000346208.3	37	c.168	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035665	0.75617	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.97279	-4.32;-4.29	4.83	2.48	0.30137	.	0.127434	0.56097	D	0.000023	D	0.97670	0.9236	M	0.83953	2.67	0.53005	D	0.999965	D;D	0.89917	1.0;0.988	D;P	0.68192	0.956;0.854	D	0.96306	0.9225	9	.	.	.	-18.8346	5.7677	0.18235	0.7673:0.0:0.0827:0.15	.	56;56	P23771;P23771-2	GATA3_HUMAN;.	H	56	ENSP00000368632:Q56H;ENSP00000341619:Q56H	.	Q	+	3	2	GATA3	8137792	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.521000	0.35910	0.673000	0.31224	-0.444000	0.05651	CAA	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.672	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0.00	116	0	A	NM_001002295		8097786	+1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	64.52	33	60	SNP	1.000	C
GDF2	2658	genome.wustl.edu	37	10	48416385	48416385	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:48416385C>T	ENST00000249598.1	-	1	468	c.309G>A	c.(307-309)acG>acA	p.T103T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	103					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGACGCTGGCGTAGTCGACT	0.582																																																	0													109.0	85.0	93.0					10																	48416385		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.309G>A	10.37:g.48416385C>T			Q5VSQ9|Q9Y571	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.T103	ENST00000249598.1	37	c.309	CCDS7219.1	10																																																																																			GDF2	-	pfam_TGF-b_N	ENSG00000128802		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	-	0.00	53	0	C	NM_016204		48416385	-1	tier1	-	no_errors	ENST00000249598	ensembl	human	known	74_37	silent	41.67	14	10	SNP	0.986	T
GLIPR1L2	144321	genome.wustl.edu	37	12	75804237	75804237	+	Silent	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:75804237G>T	ENST00000550916.1	+	2	305	c.258G>T	c.(256-258)cgG>cgT	p.R86R	GLIPR1L2_ENST00000435775.1_Silent_p.R86R|GLIPR1L2_ENST00000547164.1_Silent_p.R86R|GLIPR1L2_ENST00000441218.1_Silent_p.R21R|GLIPR1L2_ENST00000320460.4_Silent_p.R86R|GLIPR1L2_ENST00000378692.3_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	86	SCP.					integral component of membrane (GO:0016021)		p.R86R(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTATCACGGACTGCTAGAG	0.284																																																	2	Substitution - coding silent(2)	lung(2)											81.0	81.0	81.0					12																	75804237		2199	4297	6496	SO:0001819	synonymous_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.258G>T	12.37:g.75804237G>T			Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.R86	ENST00000550916.1	37	c.258	CCDS58258.1	12																																																																																			GLIPR1L2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000180481		0.284	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0.00	34	0	G	NM_152436		75804237	+1			no_errors	ENST00000550916	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.989	T
GPR128	84873	genome.wustl.edu	37	3	100356188	100356188	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:100356188G>T	ENST00000273352.3	+	6	908	c.640G>T	c.(640-642)Gcc>Tcc	p.A214S	GPR128_ENST00000475887.1_Start_Codon_SNP_p.M1I	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	214					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A214T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCCTAGATGCCAGTGAAGA	0.393																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - Missense(1)	endometrium(1)											161.0	143.0	149.0					3																	100356188		2203	4300	6503	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.640G>T	3.37:g.100356188G>T	ENSP00000273352:p.Ala214Ser		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A214S	ENST00000273352.3	37	c.640	CCDS2938.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.62|15.62	2.886207|2.886207	0.51908|0.51908	.|.	.|.	ENSG00000144820|ENSG00000144820	ENST00000273352|ENST00000475887	T|T	0.39406|0.29142	1.08|1.58	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.316681|.	0.26832|.	N|.	0.022274|.	T|T	0.49949|0.49949	0.1587|0.1587	M|M	0.72118|0.72118	2.19|2.19	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.76494|.	0.999|.	P|.	0.61800|.	0.894|.	T|T	0.46938|0.46938	-0.9155|-0.9155	10|7	0.33141|0.87932	T|D	0.24|0	.|.	15.9754|15.9754	0.80060|0.80060	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	214|.	Q96K78|.	GP128_HUMAN|.	S|I	214|1	ENSP00000273352:A214S|ENSP00000419788:M1I	ENSP00000273352:A214S|ENSP00000419788:M1I	A|M	+|+	1|3	0|0	GPR128|GPR128	101838878|101838878	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.556000|0.556000	0.35491|0.35491	4.488000|4.488000	0.60300|0.60300	2.844000|2.844000	0.97970|0.97970	0.650000|0.650000	0.86243|0.86243	GCC|ATG	GPR128	-	NULL	ENSG00000144820		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1		0.00	51	0	G			100356188	+1			no_errors	ENST00000273352	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.994	T
GPR128	84873	genome.wustl.edu	37	3	100362220	100362220	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:100362220C>T	ENST00000273352.3	+	7	1077	c.809C>T	c.(808-810)cCt>cTt	p.P270L	GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	270					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCGGTGGGGCCTTCAAATGTT	0.403																																					Pancreas(87;185 1975 7223 18722)												0													149.0	151.0	150.0					3																	100362220		2203	4300	6503	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.809C>T	3.37:g.100362220C>T	ENSP00000273352:p.Pro270Leu		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.P270L	ENST00000273352.3	37	c.809	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096209	0.20552	.	.	ENSG00000144820	ENST00000273352	T	0.37915	1.17	4.7	1.85	0.25348	.	0.772477	0.11050	N	0.605101	T	0.19167	0.0460	N	0.22421	0.69	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.20840	-1.0263	10	0.23302	T	0.38	.	4.3854	0.11314	0.0:0.6024:0.1868:0.2108	.	270	Q96K78	GP128_HUMAN	L	270	ENSP00000273352:P270L	ENSP00000273352:P270L	P	+	2	0	GPR128	101844910	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.319000	0.33655	0.190000	0.20209	-0.182000	0.12963	CCT	GPR128	-	NULL	ENSG00000144820		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	-	0.00	47	0	C			100362220	+1	tier1	-	no_errors	ENST00000273352	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T
GRIA1	2890	genome.wustl.edu	37	5	153190785	153190785	+	Nonstop_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:153190785A>C	ENST00000285900.5	+	16	3064	c.2721A>C	c.(2719-2721)taA>taC	p.*907Y	GRIA1_ENST00000518142.1_Nonstop_Mutation_p.*827Y|GRIA1_ENST00000340592.5_Nonstop_Mutation_p.*907Y|GRIA1_ENST00000448073.4_Nonstop_Mutation_p.*917Y|GRIA1_ENST00000518783.1_Nonstop_Mutation_p.*917Y|GRIA1_ENST00000521843.2_Nonstop_Mutation_p.*838Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	0					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGGGATTGTAACTGGAGCAGA	0.557																																																	0													37.0	35.0	36.0					5																	153190785		2203	4300	6503	SO:0001578	stop_lost	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2721A>C	5.37:g.153190785A>C	ENSP00000285900:p.*907Tyrext*52		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonstop_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.*917Y	ENST00000285900.5	37	c.2751	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805780	0.70682	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6204	0.33857	0.914:0.0:0.086:0.0	.	.	.	.	Y	907;907;827;907;840;838;917;917	.	.	X	+	3	2	GRIA1	153170978	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.788000	0.75105	1.888000	0.54679	0.459000	0.35465	TAA	GRIA1	-	NULL	ENSG00000155511		0.557	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0.00	26	0	A			153190785	+1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	nonstop	38.10	13	8	SNP	1.000	C
GUCY1B2	2974	genome.wustl.edu	37	13	51594665	51594666	+	RNA	INS	-	-	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr13:51594665_51594666insT	ENST00000493639.2	-	0	1300_1301					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										CTCCTTCTTCCTTTCCAGCTGG	0.525																																																	0																																												0			AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51594668_51594668dupT			Q9NZ64	RNA	INS	-	NULL	ENST00000493639.2	37	NULL		13																																																																																			GUCY1B2	-	-	ENSG00000123201		0.525	GUCY1B2-001	KNOWN	basic	processed_transcript	GUCY1B2	HGNC	pseudogene	OTTHUMT00000045014.3		0.00	70	0	-			51594666	-1	tier1		no_errors	ENST00000389600	ensembl	human	known	74_37	rna	10.00	45	5	INS	1.000:1.000	T
HCN1	348980	genome.wustl.edu	37	5	45262335	45262335	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:45262335G>A	ENST00000303230.4	-	8	2418	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	787					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S787S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGAGGCGGAGAGTGGCC	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)											68.0	65.0	66.0					5																	45262335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2361C>T	5.37:g.45262335G>A				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S787	ENST00000303230.4	37	c.2361	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.622	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	30	0	G	NM_021072		45262335	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.205	A
HIP1R	9026	genome.wustl.edu	37	12	123340695	123340695	+	Missense_Mutation	SNP	C	C	T	rs532716787		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:123340695C>T	ENST00000253083.4	+	14	1422	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	433					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGGGCCTGCGTGAGGAGGC	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15761	0.0		0.0	False		,,,				2504	0.0																0													27.0	30.0	29.0					12																	123340695		2193	4293	6486	SO:0001583	missense	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1297C>T	12.37:g.123340695C>T	ENSP00000253083:p.Arg433Cys		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.R433C	ENST00000253083.4	37	c.1297	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104074	0.37145	.	.	ENSG00000130787	ENST00000253083	T	0.15017	2.46	4.84	3.82	0.43975	.	0.530410	0.22357	N	0.061123	T	0.10208	0.0250	N	0.22421	0.69	0.40250	D	0.978061	B;B;B	0.15473	0.003;0.003;0.013	B;B;B	0.06405	0.002;0.002;0.002	T	0.11227	-1.0596	10	0.46703	T	0.11	-17.8133	5.7427	0.18102	0.0:0.7457:0.0:0.2543	.	433;433;421	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	C	433	ENSP00000253083:R433C	ENSP00000253083:R433C	R	+	1	0	HIP1R	121906648	0.792000	0.28813	0.997000	0.53966	0.859000	0.49053	2.802000	0.47916	2.238000	0.73509	0.561000	0.74099	CGT	HIP1R	-	NULL	ENSG00000130787		0.687	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1		0.00	46	0	C	NM_003959		123340695	+1			no_errors	ENST00000253083	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.977	T
HIST1H3C	8352	genome.wustl.edu	37	6	26045794	26045794	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:26045794C>T	ENST00000540144.1	+	1	156	c.156C>T	c.(154-156)atC>atT	p.I52I	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	52					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						TGCGCGAAATCCGTCGCTACC	0.622																																																	0													49.0	52.0	51.0					6																	26045794		2203	4300	6503	SO:0001819	synonymous_variant	0			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.156C>T	6.37:g.26045794C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.I52	ENST00000540144.1	37	c.156	CCDS4576.1	6																																																																																			HIST1H3C	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196532		0.622	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	-	0.00	67	0	C	NM_003531		26045794	+1	tier1	-	no_errors	ENST00000540144	ensembl	human	known	74_37	silent	55.56	32	40	SNP	1.000	T
HSD17B12	51144	genome.wustl.edu	37	11	43776433	43776433	+	Intron	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:43776433delT	ENST00000278353.4	+	3	402				HSD17B12_ENST00000529261.1_Intron|HSD17B12_ENST00000395700.4_Frame_Shift_Del_p.T98fs	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						GCAATTATACTTGAGACCTGA	0.318																																					Ovarian(58;548 1143 13948 16572 34258)												0													86.0	88.0	88.0					11																	43776433		876	1991	2867	SO:0001627	intron_variant	0			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.283+762T>-	11.37:g.43776433delT			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR	p.*99fs	ENST00000278353.4	37	c.294	CCDS7905.1	11																																																																																			HSD17B12	-	NULL	ENSG00000149084		0.318	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1		0.00	51	0	T			43776433	+1	tier1		no_errors	ENST00000395700	ensembl	human	putative	74_37	frame_shift_del	10.53	17	2	DEL	0.010	-
ICAM1	3383	genome.wustl.edu	37	19	10385492	10385492	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10385492G>A	ENST00000264832.3	+	2	444	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	40					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATCCTGCCCCGGGGAGGCTCC	0.567																																																	0													67.0	66.0	66.0					19																	10385492		2203	4300	6503	SO:0001583	missense	0				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.119G>A	19.37:g.10385492G>A	ENSP00000264832:p.Arg40Gln		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.R40Q	ENST00000264832.3	37	c.119	CCDS12231.1	19	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028452	0.35797	.	.	ENSG00000090339	ENST00000264832	T	0.31247	1.5	4.56	-1.88	0.07713	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.845085	0.10212	N	0.702004	T	0.16981	0.0408	L	0.49350	1.555	0.09310	N	1	P	0.41524	0.753	B	0.28139	0.086	T	0.19976	-1.0289	10	0.23891	T	0.37	-2.8636	4.3762	0.11272	0.2812:0.3157:0.4031:0.0	.	40	P05362	ICAM1_HUMAN	Q	40	ENSP00000264832:R40Q	ENSP00000264832:R40Q	R	+	2	0	ICAM1	10246492	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.693000	0.05121	0.007000	0.14760	0.655000	0.94253	CGG	ICAM1	-	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N	ENSG00000090339		0.567	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	-	0.00	38	0	G			10385492	+1	tier1	-	no_errors	ENST00000264832	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.000	A
IGFN1	91156	genome.wustl.edu	37	1	201181673	201181673	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:201181673G>A	ENST00000335211.4	+	12	7782	c.7652G>A	c.(7651-7653)cGg>cAg	p.R2551Q	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGATATGAACGGGACATCTGG	0.587																																																	0													25.0	27.0	27.0					1																	201181673		692	1591	2283	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7652G>A	1.37:g.201181673G>A	ENSP00000334714:p.Arg2551Gln		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R2551Q	ENST00000335211.4	37	c.7652	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439042	0.25900	.	.	ENSG00000163395	ENST00000335211	T	0.51574	0.7	3.53	-7.07	0.01563	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22871	-1.0204	6	.	.	.	.	7.8001	0.29170	0.326:0.0:0.5404:0.1336	.	.	.	.	Q	2551	ENSP00000334714:R2551Q	.	R	+	2	0	IGFN1	199448296	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-3.048000	0.00629	-2.294000	0.00663	-0.778000	0.03378	CGG	IGFN1	-	NULL	ENSG00000163395		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0.00	80	0	G	NM_178275		201181673	+1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.000	A
IL12B	3593	genome.wustl.edu	37	5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:158750268G>T	ENST00000231228.2	-	3	613	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	53	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCAGGGGTGTCACA	0.507																																																	0													90.0	81.0	84.0					5																	158750268		2203	4300	6503	SO:0001583	missense	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.158C>A	5.37:g.158750268G>T	ENSP00000231228:p.Pro53His			Missense_Mutation	SNP	pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P53H	ENST00000231228.2	37	c.158	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355807	0.41700	.	.	ENSG00000113302	ENST00000231228	T	0.21932	1.98	6.17	2.32	0.28847	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739984	0.14132	N	0.339286	T	0.19846	0.0477	M	0.63428	1.95	0.09310	N	1	P	0.47841	0.901	B	0.42771	0.397	T	0.13683	-1.0500	10	0.17369	T	0.5	-17.4449	6.1456	0.20283	0.1106:0.0:0.6083:0.2811	.	53	P29460	IL12B_HUMAN	H	53	ENSP00000231228:P53H	ENSP00000231228:P53H	P	-	2	0	IL12B	158682846	0.206000	0.23470	0.018000	0.16275	0.996000	0.88848	0.949000	0.29109	0.140000	0.18849	0.655000	0.94253	CCT	IL12B	-	pirsf_IL-12_beta,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113302		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	-	0.00	62	0	G	NM_002187		158750268	-1	tier1	-	no_errors	ENST00000231228	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.037	T
IMMP1L	196294	genome.wustl.edu	37	11	31454095	31454095	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:31454095delA	ENST00000278200.1	-	7	648	c.453delT	c.(451-453)tttfs	p.F151fs	AC108456.1_ENST00000408411.1_RNA|IMMP1L_ENST00000533642.1_Frame_Shift_Del_p.F42fs|IMMP1L_ENST00000526776.1_Frame_Shift_Del_p.F79fs|IMMP1L_ENST00000532287.1_Frame_Shift_Del_p.F151fs|IMMP1L_ENST00000534812.1_Frame_Shift_Del_p.F42fs	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	151					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GTAAAAATCCAAAATCACTCA	0.333																																																	0													69.0	65.0	67.0					11																	31454095		2202	4298	6500	SO:0001589	frameshift_variant	0				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.453delT	11.37:g.31454095delA	ENSP00000278200:p.Phe151fs		D3DQZ7|Q96SH9	Frame_Shift_Del	DEL	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.F151fs	ENST00000278200.1	37	c.453	CCDS7874.1	11																																																																																			IMMP1L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000148950		0.333	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1		0.00	46	0	A	NM_144981		31454095	-1	tier1		no_errors	ENST00000278200	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-
IMPG1	3617	genome.wustl.edu	37	6	76640790	76640790	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:76640790G>A	ENST00000369950.3	-	15	2312	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	Y_RNA_ENST00000363170.1_RNA|IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A708V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCGACACTCCGCTTCCTCAGT	0.562																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	breast(1)											107.0	85.0	93.0					6																	76640790		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2123C>T	6.37:g.76640790G>A	ENSP00000358966:p.Ala708Val			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A708V	ENST00000369950.3	37	c.2123	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575066	0.45902	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.32272	1.74;1.46	5.45	1.74	0.24563	Epidermal growth factor-like, type 3 (1);	0.411437	0.21614	N	0.071755	T	0.33585	0.0868	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07501	-1.0769	10	0.45353	T	0.12	.	9.1989	0.37246	0.2857:0.0:0.7143:0.0	.	708	Q17R60	IMPG1_HUMAN	V	708;69	ENSP00000358966:A708V;ENSP00000358968:A69V	ENSP00000358966:A708V	A	-	2	0	IMPG1	76697510	1.000000	0.71417	0.037000	0.18230	0.186000	0.23388	4.108000	0.57817	0.028000	0.15324	-0.677000	0.03784	GCG	IMPG1	-	pfscan_EG-like_dom	ENSG00000112706		0.562	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0.00	40	0	G	NM_001563		76640790	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.876	A
INSIG2	51141	genome.wustl.edu	37	2	118866018	118866018	+	3'UTR	SNP	G	G	A	rs559232105		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:118866018G>A	ENST00000245787.4	+	0	1004				INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CTTGATTGGCGTGTGTGTATA	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.*120G>A	2.37:g.118866018G>A			A8K5W8|Q8TBI8	RNA	SNP	-	NULL	ENST00000245787.4	37	NULL	CCDS2122.1	2																																																																																			INSIG2	-	-	ENSG00000125629		0.333	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	-	0.00	36	0	G	NM_016133		118866018	+1	tier1	-	no_errors	ENST00000471186	ensembl	human	known	74_37	rna	35.00	13	7	SNP	0.004	A
IQCD	115811	genome.wustl.edu	37	12	113633598	113633598	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:113633598G>T	ENST00000416617.2	-	5	1322	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K	IQCD_ENST00000299732.2_Missense_Mutation_p.Q276K			Q96DY2	IQCD_HUMAN	IQ motif containing D	378										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCCCGGATCTGCGCAAACTCT	0.602																																																	0													115.0	102.0	107.0					12																	113633598		2203	4300	6503	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.1132C>A	12.37:g.113633598G>T	ENSP00000400669:p.Gln378Lys		Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q378K	ENST00000416617.2	37	c.1132		12	.	.	.	.	.	.	.	.	.	.	G	0.665	-0.804266	0.02819	.	.	ENSG00000166578	ENST00000299732;ENST00000416617	T;T	0.49139	3.03;0.79	4.29	4.29	0.51040	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	B	0.33448	0.412	B	0.37091	0.241	T	0.42189	-0.9466	8	0.37606	T	0.19	-10.923	15.6583	0.77162	0.0:0.0:1.0:0.0	.	276	Q96DY2-2	.	K	276;378	ENSP00000299732:Q276K;ENSP00000400669:Q378K	ENSP00000299732:Q276K	Q	-	1	0	IQCD	112117981	1.000000	0.71417	0.924000	0.36721	0.031000	0.12232	4.839000	0.62810	2.224000	0.72417	0.561000	0.74099	CAG	IQCD	-	NULL	ENSG00000166578		0.602	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1		0.00	26	0	G	NM_138451		113633598	-1			no_errors	ENST00000416617	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.986	T
JAK3	3718	genome.wustl.edu	37	19	17955112	17955112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:17955112delG	ENST00000527670.1	-	1	144	c.115delC	c.(115-117)cagfs	p.Q39fs	JAK3_ENST00000534444.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000458235.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	39	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q39fs*108(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GATAGGCGCTGGGGGGGCCCG	0.662		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Deletion - Frameshift(1)	large_intestine(1)											13.0	15.0	14.0					19																	17955112		2197	4293	6490	SO:0001589	frameshift_variant	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.115delC	19.37:g.17955112delG	ENSP00000432511:p.Gln39fs		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q39fs	ENST00000527670.1	37	c.115	CCDS12366.1	19																																																																																			JAK3	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	ENSG00000105639		0.662	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1		0.00	53	0	G	NM_000215		17955112	-1	tier1		no_errors	ENST00000458235	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.212	-
JDP2	122953	genome.wustl.edu	37	14	75904636	75904636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:75904636C>T	ENST00000435893.2	+	2	286	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	JDP2_ENST00000437176.1_Nonsense_Mutation_p.Q5*|JDP2_ENST00000419727.2_Nonsense_Mutation_p.Q5*|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000267569.5_Nonsense_Mutation_p.Q16*	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	5					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	GATGCCTGGGCAGATCCCGGA	0.662																																																	0													26.0	31.0	29.0					14																	75904636		2203	4300	6503	SO:0001587	stop_gained	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.13C>T	14.37:g.75904636C>T	ENSP00000399587:p.Gln5*		J3KN58|O95430|Q9UIE4	Nonsense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.Q16*	ENST00000435893.2	37	c.46	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.963315	0.97151	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	.	.	.	5.61	4.73	0.59995	.	0.067303	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.4944	12.8313	0.57748	0.0:0.9248:0.0:0.0752	.	.	.	.	X	5;5;5;16	.	ENSP00000267569:Q16X	Q	+	1	0	JDP2	74974389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.036000	0.76524	1.384000	0.46424	0.561000	0.74099	CAG	JDP2	-	NULL	ENSG00000140044		0.662	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	-	0.00	54	0	C	NM_130469		75904636	+1	tier1	-	no_errors	ENST00000267569	ensembl	human	known	74_37	nonsense	25.00	54	18	SNP	1.000	T
KANSL3	55683	genome.wustl.edu	37	2	97261266	97261267	+	3'UTR	INS	-	-	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:97261266_97261267insA	ENST00000431828.1	-	0	2794_2795				KANSL3_ENST00000440133.1_3'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_3'UTR|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTGGACAGCTCAGCAGGACCAC	0.54																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.*82->T	2.37:g.97261267_97261267dupA			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	RNA	INS	-	NULL	ENST00000431828.1	37	NULL	CCDS46361.1	2																																																																																			KANSL3	-	-	ENSG00000114982		0.540	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2		0.00	41	0	-	NM_017991		97261267	-1	tier1		no_errors	ENST00000481986	ensembl	human	known	74_37	rna	27.78	13	5	INS	0.022:0.011	A
KANSL3	55683	genome.wustl.edu	37	2	97302702	97302702	+	Silent	SNP	G	G	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:97302702G>C	ENST00000431828.1	-	2	247	c.171C>G	c.(169-171)acC>acG	p.T57T	KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000441706.2_5'UTR|KANSL3_ENST00000599854.1_5'UTR|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000435669.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	57					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGAGCATGCGGGTGGGGCGGG	0.577																																																	0													37.0	33.0	34.0					2																	97302702		692	1591	2283	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.171C>G	2.37:g.97302702G>C			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.T57	ENST00000431828.1	37	c.171	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.577	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	-	0.00	65	0	G	NM_017991		97302702	-1	tier1	-	no_errors	ENST00000431828	ensembl	human	known	74_37	silent	70.00	9	21	SNP	0.997	C
KCNB1	3745	genome.wustl.edu	37	20	47991256	47991256	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:47991256C>T	ENST00000371741.4	-	2	1007	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	281					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TTGTTGGATTCGGTGAGGAAA	0.522																																																	0													88.0	82.0	84.0					20																	47991256		2203	4300	6503	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.841G>A	20.37:g.47991256C>T	ENSP00000360806:p.Glu281Lys		Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E281K	ENST00000371741.4	37	c.841	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464518	0.84425	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98585	-5.01	6.01	6.01	0.97437	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	M	0.64170	1.965	0.80722	D	1	P	0.52316	0.952	P	0.45681	0.49	D	0.96984	0.9717	10	0.36615	T	0.2	.	19.0992	0.93266	0.0:1.0:0.0:0.0	.	281	Q14721	KCNB1_HUMAN	K	281;236	ENSP00000360806:E281K	ENSP00000360806:E281K	E	-	1	0	KCNB1	47424663	1.000000	0.71417	0.669000	0.29828	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAA	KCNB1	-	pfam_Ion_trans_dom	ENSG00000158445		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	-	0.00	42	0	C	NM_004975		47991256	-1	tier1	-	no_errors	ENST00000371741	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.998	T
KDM2A	22992	genome.wustl.edu	37	11	66999244	66999244	+	Missense_Mutation	SNP	G	G	A	rs200011930		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:66999244G>A	ENST00000529006.2	+	12	1738	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	KDM2A_ENST00000398645.2_Missense_Mutation_p.R431Q|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	431					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GACTGTAGCCGGGGCTCCCAC	0.527																																																	0								G	GLN/ARG	1,3835		0,1,1917	70.0	72.0	71.0		1292	5.5	0.9	11		71	2,8212		0,2,4105	yes	missense	KDM2A	NM_012308.2	43	0,3,6022	AA,AG,GG		0.0243,0.0261,0.0249	probably-damaging	431/1163	66999244	3,12047	1918	4107	6025	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1292G>A	11.37:g.66999244G>A	ENSP00000432786:p.Arg431Gln		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R431Q	ENST00000529006.2	37	c.1292	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311881	0.60414	2.61E-4	2.43E-4	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.29142	1.58;1.58	5.53	5.53	0.82687	.	0.000000	0.49916	D	0.000129	T	0.18841	0.0452	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44108	0.441	T	0.06023	-1.0850	10	0.14252	T	0.57	-14.782	16.9919	0.86356	0.0:0.0:1.0:0.0	.	431	Q9Y2K7	KDM2A_HUMAN	Q	431	ENSP00000381640:R431Q;ENSP00000432786:R431Q	ENSP00000381640:R431Q	R	+	2	0	KDM2A	66755820	1.000000	0.71417	0.900000	0.35374	0.972000	0.66771	4.249000	0.58766	2.770000	0.95276	0.655000	0.94253	CGG	KDM2A	-	NULL	ENSG00000173120		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	-	0.00	38	0	G	NM_012308		66999244	+1	tier1	rs200011930	no_errors	ENST00000529006	ensembl	human	known	74_37	missense	89.66	3	26	SNP	0.999	A
KDM4B	23030	genome.wustl.edu	37	19	5132015	5132015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:5132015G>T	ENST00000159111.4	+	13	2121	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E669*	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	635					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTCAAGTGACGAGGGTGAGTG	0.692																																																	0													19.0	25.0	23.0					19																	5132015		2192	4289	6481	SO:0001587	stop_gained	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1903G>T	19.37:g.5132015G>T	ENSP00000159111:p.Glu635*		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E635*	ENST00000159111.4	37	c.1903	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.495731	0.98319	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	.	.	.	4.12	4.12	0.48240	.	0.393322	0.28515	N	0.015061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.101	16.3774	0.83410	0.0:0.0:1.0:0.0	.	.	.	.	X	635;669	.	ENSP00000159111:E635X	E	+	1	0	KDM4B	5083015	1.000000	0.71417	0.927000	0.36925	0.769000	0.43574	6.079000	0.71291	1.854000	0.53819	0.561000	0.74099	GAG	KDM4B	-	NULL	ENSG00000127663		0.692	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0.00	24	0	G	NM_015015		5132015	+1			no_errors	ENST00000159111	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T
KLF8	11279	genome.wustl.edu	37	X	56291804	56291804	+	Silent	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:56291804T>C	ENST00000468660.1	+	3	561	c.273T>C	c.(271-273)ttT>ttC	p.F91F	KLF8_ENST00000374928.3_Silent_p.F91F	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						ACCTCTCCTTTCACAAGCCCA	0.532																																																	0													65.0	55.0	58.0					X																	56291804		2203	4300	6503	SO:0001819	synonymous_variant	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.273T>C	X.37:g.56291804T>C			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F91	ENST00000468660.1	37	c.273	CCDS14373.1	X																																																																																			KLF8	-	NULL	ENSG00000102349		0.532	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2		0.00	22	0	T	NM_007250		56291804	+1			no_errors	ENST00000468660	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	C
CDKN2D	1032	genome.wustl.edu	37	19	10676487	10676488	+	IGR	INS	-	-	CC	rs61702518|rs34864064|rs570294642	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10676487_10676488insCC	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_Frame_Shift_Ins_p.A27fs|KRI1_ENST00000537964.1_Intron|KRI1_ENST00000312962.6_Intron	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAGACGGGATGCCCCCCCCCAG	0.733														1955	0.390375	0.3843	0.3401	5008	,	,		11359	0.2351		0.5716	False		,,,				2504	0.408																0																																										SO:0001628	intergenic_variant	0				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10676494_10676495dupCC			Q13102|Q6FGE9	Frame_Shift_Ins	INS	pfam_KRR1-interact_protein_1	p.A27fs	ENST00000393599.2	37	c.80_79	CCDS12244.1	19																																																																																			KRI1	-	NULL	ENSG00000129347		0.733	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452030.1		0.00	24	0	-	NM_079421		10676488	-1	tier1		no_errors	ENST00000361821	ensembl	human	putative	74_37	frame_shift_ins	16.67	25	5	INS	0.000:0.000	CC
CDKN2D	1032	genome.wustl.edu	37	19	10676487	10676488	+	IGR	INS	-	-	CCC	rs61702518|rs34864064|rs570294642	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10676487_10676488insCCC	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_In_Frame_Ins_p.26_27insG|KRI1_ENST00000537964.1_Intron|KRI1_ENST00000312962.6_Intron	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAGACGGGATGCCCCCCCCCAG	0.733																																																	0																																										SO:0001628	intergenic_variant	0				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10676494_10676496dupCCC			Q13102|Q6FGE9	In_Frame_Ins	INS	pfam_KRR1-interact_protein_1	p.27in_frame_insG	ENST00000393599.2	37	c.80_79	CCDS12244.1	19																																																																																			KRI1	-	NULL	ENSG00000129347		0.733	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452030.1		0.00	24	0	-	NM_079421		10676488	-1	tier1		no_errors	ENST00000361821	ensembl	human	putative	74_37	in_frame_ins	23.33	23	7	INS	0.000:0.000	CCC
LARP1B	55132	genome.wustl.edu	37	4	129120737	129120737	+	Missense_Mutation	SNP	G	G	T	rs150749510		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:129120737G>T	ENST00000326639.6	+	16	2358	c.2147G>T	c.(2146-2148)cGt>cTt	p.R716L	LARP1B_ENST00000264584.5_Missense_Mutation_p.R657L|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.R135L|LARP1B_ENST00000441387.1_Missense_Mutation_p.R716L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	716						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CACAAGTATCGTCGAAGATGC	0.313																																																	0													92.0	81.0	85.0					4																	129120737		2203	4300	6503	SO:0001583	missense	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2147G>T	4.37:g.129120737G>T	ENSP00000321997:p.Arg716Leu		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R716L	ENST00000326639.6	37	c.2147	CCDS3738.1	4	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364112	0.41902	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T	0.29917	1.62;1.61;1.61;1.55	4.72	3.88	0.44766	.	0.174294	0.51477	D	0.000087	T	0.38401	0.1039	M	0.78049	2.395	0.35182	D	0.772558	B;B	0.24317	0.028;0.101	B;B	0.32289	0.022;0.143	T	0.53187	-0.8474	10	0.72032	D	0.01	.	11.2	0.48736	0.1535:0.0:0.8465:0.0	.	135;716	Q659C4-5;Q659C4	.;LAR1B_HUMAN	L	716;657;716;135	ENSP00000321997:R716L;ENSP00000264584:R657L;ENSP00000396521:R716L;ENSP00000346444:R135L	ENSP00000264584:R657L	R	+	2	0	LARP1B	129340187	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.002000	0.49496	1.213000	0.43380	0.455000	0.32223	CGT	LARP1B	-	smart_DM15	ENSG00000138709		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	-	0.00	120	0	G	NM_018078		129120737	+1	tier1	-	no_errors	ENST00000326639	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
LHCGR	3973	genome.wustl.edu	37	2	48925917	48925917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:48925917G>A	ENST00000294954.7	-	9	724	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	LHCGR_ENST00000401907.1_Nonsense_Mutation_p.Q235*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Q235*|LHCGR_ENST00000403273.1_Nonsense_Mutation_p.Q235*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	235					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGCAGGGCCTGCAATTTGGTG	0.378																																																	0													63.0	66.0	65.0					2																	48925917		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.703C>T	2.37:g.48925917G>A	ENSP00000294954:p.Gln235*		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.Q235*	ENST00000294954.7	37	c.703	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.314907	0.95655	.	.	ENSG00000138039	ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	.	.	.	5.87	4.98	0.66077	.	0.257437	0.43416	D	0.000571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8002	0.57582	0.0:0.3404:0.6596:0.0	.	.	.	.	X	235	.	.	Q	-	1	0	LHCGR	48779421	0.794000	0.28838	1.000000	0.80357	0.995000	0.86356	2.073000	0.41519	2.778000	0.95560	0.650000	0.86243	CAG	LHCGR	-	NULL	ENSG00000138039		0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0.00	67	0	G	NM_000233.3		48925917	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	51.85	13	14	SNP	1.000	A
PKP4	8502	genome.wustl.edu	37	2	159517070	159517070	+	Intron	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:159517070G>A	ENST00000389759.3	+	13	2205				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Intron	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCACAGTTTTGCAAATTCTCA	0.438										HNSCC(62;0.18)																																							0																																										SO:0001627	intron_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2094-775G>A	2.37:g.159517070G>A			Q86W91	RNA	SNP	-	NULL	ENST00000389759.3	37	NULL	CCDS33305.1	2																																																																																			AC005042.4	-	-	ENSG00000204380		0.438	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129029	Clone_based_vega_gene	protein_coding	OTTHUMT00000333250.1	-	0.00	52	0	G			159517070	-1	tier1	-	no_errors	ENST00000342892	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.000	A
FHAD1	114827	genome.wustl.edu	37	1	15653648	15653648	+	Intron	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:15653648C>T	ENST00000375998.4	+	11	1557				FHAD1_ENST00000417793.1_Intron|FHAD1_ENST00000375999.3_Intron|RP3-467K16.2_ENST00000428747.1_RNA|FHAD1_ENST00000401090.2_Intron|FHAD1_ENST00000358897.4_Intron|FHAD1_ENST00000471347.1_Intron|FHAD1_ENST00000375995.3_Intron			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1											skin(1)|stomach(1)	2						GGTTAGTCTGCCGTCCCTGCC	0.547																																																	0													27.0	30.0	29.0					1																	15653648		692	1591	2283	SO:0001627	intron_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.1557+10C>T	1.37:g.15653648C>T			Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	RNA	SNP	-	NULL	ENST00000375998.4	37	NULL		1																																																																																			RP3-467K16.2	-	-	ENSG00000233485		0.547	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	LOC101927417	Clone_based_vega_gene	protein_coding	OTTHUMT00000393400.2	-	0.00	31	0	C	NM_052929		15653648	-1	tier1	-	no_errors	ENST00000428747	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.000	T
FAM91A3P	729182	genome.wustl.edu	37	1	149261581	149261581	+	lincRNA	SNP	G	G	C	rs77998576	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:149261581G>C	ENST00000325963.8	+	0	1128																											TGAAGAGCTTGAGCATAACAC	0.408																																																	0																																												0																															1.37:g.149261581G>C				RNA	SNP	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-	ENSG00000223779		0.408	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	-	0.00	30	0	G			149261581	+1	tier1	rs77998576	no_errors	ENST00000325963	ensembl	human	known	74_37	rna	14.29	18	3	SNP	1.000	C
AP3B2	8120	genome.wustl.edu	37	15	83380075	83380075	+	5'Flank	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:83380075G>A	ENST00000261722.3	-	0	0				AP3B2_ENST00000535348.1_5'Flank|AP3B2_ENST00000561455.1_5'Flank|AC105339.1_ENST00000440479.1_lincRNA|AP3B2_ENST00000535359.1_5'Flank|AP3B2_ENST00000542200.1_5'Flank	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCACTCTGCGCAGCACGCGC	0.637																																																	0																																										SO:0001631	upstream_gene_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009		15.37:g.83380075G>A	Exception_encountered		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	RNA	SNP	-	NULL	ENST00000261722.3	37	NULL	CCDS45331.1	15																																																																																			AC105339.1	-	-	ENSG00000228141		0.637	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC338963	Clone_based_vega_gene	protein_coding	OTTHUMT00000397463.1	-	0.00	20	0	G			83380075	-1	tier1	-	no_errors	ENST00000440089	ensembl	human	known	74_37	rna	100.00	0	12	SNP	0.004	A
LOC440040	440040	genome.wustl.edu	37	11	49829227	49829227	+	RNA	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:49829227C>A	ENST00000527477.1	+	0	1418																											ACATATTACACAGGTGAGTGT	0.338																																																	0																																												0																															11.37:g.49829227C>A				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.338	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	147	0	C			49829227	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	18.10	86	19	SNP	0.003	A
LRP1B	53353	genome.wustl.edu	37	2	141093256	141093256	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:141093256C>A	ENST00000389484.3	-	78	13015	c.12044G>T	c.(12043-12045)gGc>gTc	p.G4015V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4015					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4015D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTGGGGCCATTCAGCTG	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	lung(1)											141.0	137.0	138.0					2																	141093256		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12044G>T	2.37:g.141093256C>A	ENSP00000374135:p.Gly4015Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G4015V	ENST00000389484.3	37	c.12044	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769325|4.769325	0.90020|0.90020	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.93488	.|-3.23	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97365|0.97365	0.9138|0.9138	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97724|0.97724	1.0198|1.0198	5|10	.|0.87932	.|D	.|0	.|.	19.7341|19.7341	0.96195|0.96195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4015	.|Q9NZR2	.|LRP1B_HUMAN	S|V	247|4015;3953	.|ENSP00000374135:G4015V	.|ENSP00000374135:G4015V	A|G	-|-	1|2	0|0	LRP1B|LRP1B	140809726|140809726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.356000|7.356000	0.79445|0.79445	2.732000|2.732000	0.93576|0.93576	0.585000|0.585000	0.79938|0.79938	GCC|GGC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	95	0	C	NM_018557		141093256	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	A
LY6G5C	80741	genome.wustl.edu	37	6	31644702	31644702	+	3'UTR	DEL	G	G	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:31644702delG	ENST00000383237.4	-	0	488				LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_3'UTR|LY6G5C_ENST00000375858.3_3'UTR			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C							extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGAAACTGGTGGAATTTTACA	0.502																																																	0													77.0	87.0	83.0					6																	31644702		1511	2709	4220	SO:0001624	3_prime_UTR_variant	0				CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.*32C>-	6.37:g.31644702delG			A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	RNA	DEL	-	NULL	ENST00000383237.4	37	NULL	CCDS34401.2	6																																																																																			LY6G5C	-	-	ENSG00000204428		0.502	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	LY6G5C	HGNC	protein_coding	OTTHUMT00000076473.4		0.00	54	0	G			31644702	-1	tier1		no_errors	ENST00000467098	ensembl	human	known	74_37	rna	16.67	10	2	DEL	0.000	-
LY6G6D	58530	genome.wustl.edu	37	6	31680164	31680164	+	5'Flank	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:31680164G>A	ENST00000375825.3	+	0	0				XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6E_ENST00000383418.4_Missense_Mutation_p.P111L|LY6G6E_ENST00000409239.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CACAAAGAGGGGCAGGGAGGC	0.647																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370		6.37:g.31680164G>A	Exception_encountered		A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Missense_Mutation	SNP	NULL	p.P111L	ENST00000375825.3	37	c.332	CCDS34404.1	6	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.480631	0.01027	.	.	ENSG00000255552	ENST00000383418	.	.	.	3.63	2.49	0.30216	.	.	.	.	.	T	0.02533	0.0077	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	T	0.46470	-0.9189	5	0.02654	T	1	-9.3117	5.1587	0.15048	0.8608:0.0:0.1392:0.0	.	.	.	.	L	111	.	ENSP00000372910:P111L	P	-	2	0	AL662899.1	31788143	0.053000	0.20554	0.019000	0.16419	0.007000	0.05969	2.072000	0.41510	0.769000	0.33313	-0.367000	0.07326	CCC	LY6G6E	-	NULL	ENSG00000255552		0.647	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6E	HGNC	protein_coding	OTTHUMT00000144875.2	-	0.00	26	0	G			31680164	-1	tier1	-	no_errors	ENST00000383418	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.025	A
MAGEB5	347541	genome.wustl.edu	37	X	26235664	26235664	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:26235664C>A	ENST00000602297.1	+	2	493	c.246C>A	c.(244-246)caC>caA	p.H82Q	MAGEB5_ENST00000379029.2_Missense_Mutation_p.H82Q	NM_001271752.1	NP_001258681.1	Q9BZ81	MAGB5_HUMAN	melanoma antigen family B, 5	82	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									lung(1)|ovary(1)	2						CTGAGATTCACAGAAGAGCTT	0.413																																																	0																																										SO:0001583	missense	0			AF333705	CCDS65233.1	Xp22	2012-04-20			ENSG00000188408	ENSG00000188408			23795	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 3"""	300466				10861452	Standard	NM_001271752		Approved	MAGE-B5, CT3.3	uc031thc.1	Q9BZ81	OTTHUMG00000021288	ENST00000602297.1:c.246C>A	X.37:g.26235664C>A	ENSP00000473493:p.His82Gln			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H82Q	ENST00000602297.1	37	c.246		X	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325151	0.24080	.	.	ENSG00000188408	ENST00000379029	T	0.04603	3.59	3.97	-2.96	0.05547	.	0.583668	0.16677	U	0.204099	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.40040	-0.9584	8	0.87932	D	0	.	0.8514	0.01173	0.1492:0.2386:0.2907:0.3215	.	.	.	.	Q	82	ENSP00000368315:H82Q	ENSP00000368315:H82Q	H	+	3	2	MAGEB5	26145585	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.498000	0.00968	-0.913000	0.03832	0.544000	0.68410	CAC	MAGEB5	-	pfam_MAGE,pfscan_MAGE	ENSG00000188408		0.413	MAGEB5-001	KNOWN	basic|appris_principal	protein_coding	MAGEB5	HGNC	protein_coding	OTTHUMT00000056126.2	-	0.00	40	0	C	XM_293407		26235664	+1	tier1	-	no_errors	ENST00000379029	ensembl	human	known	74_37	missense	76.00	6	19	SNP	0.000	A
MAP3K5	4217	genome.wustl.edu	37	6	136932475	136932475	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:136932475G>A	ENST00000359015.4	-	18	2826	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	MAP3K5_ENST00000355845.4_Silent_p.D69D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGTTCCGAAGTCAGAGATCT	0.363																																																	0													155.0	145.0	148.0					6																	136932475		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2466C>T	6.37:g.136932475G>A			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D822	ENST00000359015.4	37	c.2466	CCDS5179.1	6																																																																																			MAP3K5	-	pfam_Prot_kinase_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_dom	ENSG00000197442		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0.00	89	0	G			136932475	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	59.18	39	58	SNP	1.000	A
MBD3	53615	genome.wustl.edu	37	19	1578371	1578372	+	In_Frame_Ins	INS	-	-	CTC	rs371220154		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:1578371_1578372insCTC	ENST00000434436.3	-	6	972_973	c.843_844insGAG	c.(841-846)gagccc>gagGAGccc	p.281_282insE	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Ins_p.249_250insE|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_In_Frame_Ins_p.225_226insE|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_In_Frame_Ins_p.281_282insE	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGGTCGGGctcctcctcct	0.713																																																	0																																										SO:0001652	inframe_insertion	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843dupGAG	19.37:g.1578378_1578380dupCTC	ENSP00000412302:p.Glu281_Glu281dup		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Ins	INS	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.281in_frame_insE	ENST00000434436.3	37	c.844_843	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold	ENSG00000071655		0.713	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2		0.00	22	0	-	NM_003926		1578372	-1	tier1		no_errors	ENST00000156825	ensembl	human	known	74_37	in_frame_ins	25.81	23	8	INS	0.893:0.902	CTC
MEF2B	100271849	genome.wustl.edu	37	19	19261545	19261545	+	5'UTR	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:19261545C>T	ENST00000602424.2	-	0	726				MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.T17T|MEF2B_ENST00000424583.2_5'UTR|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_5'UTR|MEF2B_ENST00000409447.2_5'UTR|MEF2B_ENST00000410050.1_5'UTR|MEF2B_ENST00000409224.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B						muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCCTCCCCATCGTCCCAGGCT	0.557																																																	0													177.0	135.0	149.0					19																	19261545		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.-1G>A	19.37:g.19261545C>T			A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.T17	ENST00000602424.2	37	c.51	CCDS12394.1	19																																																																																			MEF2BNB-MEF2B	-	NULL	ENSG00000064489		0.557	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2BNB-MEF2B	HGNC	protein_coding		-	0.00	42	0	C	NM_005919		19261545	-1	tier1	-	no_errors	ENST00000514819	ensembl	human	putative	74_37	silent	44.83	16	13	SNP	0.012	T
MBOAT7	79143	genome.wustl.edu	37	19	54687561	54687561	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:54687561C>T	ENST00000245615.1	-	5	816	c.336G>A	c.(334-336)ctG>ctA	p.L112L	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.L112L|MBOAT7_ENST00000338624.6_Silent_p.L39L|MBOAT7_ENST00000431666.2_Silent_p.L39L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	112					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCAGGCTCACCAGCTGGGCAG	0.682																																					NSCLC(97;826 2151 10470 22540)												0													25.0	26.0	26.0					19																	54687561		2203	4300	6503	SO:0001819	synonymous_variant	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.336G>A	19.37:g.54687561C>T			A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Nonsense_Mutation	SNP	NULL	p.W70*	ENST00000245615.1	37	c.209	CCDS12883.1	19																																																																																			MBOAT7	-	NULL	ENSG00000125505		0.682	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	-	0.00	37	0	C	NM_024298		54687561	-1	tier1	-	no_errors	ENST00000437868	ensembl	human	known	74_37	nonsense	34.78	15	8	SNP	1.000	T
MICAL2	9645	genome.wustl.edu	37	11	12280031	12280031	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:12280031G>T	ENST00000256194.4	+	25	3447	c.3159G>T	c.(3157-3159)aaG>aaT	p.K1053N	MICAL2_ENST00000527546.1_Missense_Mutation_p.K863N|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.K1032N|MICAL2_ENST00000537344.1_Missense_Mutation_p.K863N|MICAL2_ENST00000379612.3_Missense_Mutation_p.K827N	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1053	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTTACTGCAAGCCTCACTTCA	0.413																																																	0													98.0	99.0	99.0					11																	12280031		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3159G>T	11.37:g.12280031G>T	ENSP00000256194:p.Lys1053Asn		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1053N	ENST00000256194.4	37	c.3159	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192173	0.58017	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.69	2.36	0.29203	Zinc finger, LIM-type (4);	0.061001	0.64402	D	0.000005	D	0.91036	0.7180	M	0.69463	2.115	0.29604	N	0.84744	D;D;D;B;D;D	0.76494	0.975;0.999;0.993;0.425;0.993;0.997	P;D;P;P;D;D	0.66351	0.776;0.943;0.883;0.47;0.911;0.933	D	0.84786	0.0776	10	0.38643	T	0.18	.	7.1546	0.25630	0.4722:0.0:0.5278:0.0	.	396;1032;863;806;827;1053	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	N	863;396;1053;863;1032;827	ENSP00000441689:K863N;ENSP00000256194:K1053N;ENSP00000433965:K863N;ENSP00000344894:K1032N;ENSP00000368932:K827N	ENSP00000256194:K1053N	K	+	3	2	MICAL2	12236607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.421000	0.44688	0.711000	0.32018	0.655000	0.94253	AAG	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.413	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0.00	60	0	G	NM_014632		12280031	+1			no_errors	ENST00000256194	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.973	T
MIR31HG	554202	genome.wustl.edu	37	9	21455676	21455676	+	RNA	SNP	A	A	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:21455676A>T	ENST00000304425.3	-	0	709					NR_027054.1				MIR31 host gene (non-protein coding)																		CCCCAGGAGAAGGTGGAAGTC	0.507																																																	0																																												0			AK124391		9p21.3	2014-07-18			ENSG00000171889	ENSG00000171889		"""-"""	37187	non-coding RNA	RNA, long non-coding						15364902, 22289355, 24631686	Standard	NR_027054		Approved	LOC554202	uc003zpe.2		OTTHUMG00000019681		9.37:g.21455676A>T				RNA	SNP	-	NULL	ENST00000304425.3	37	NULL		9																																																																																			MIR31HG	-	-	ENSG00000171889		0.507	MIR31HG-001	KNOWN	basic	sense_overlapping	MIR31HG	HGNC	sense_overlapping	OTTHUMT00000051910.1	-	0.00	44	0	A	NR_027054		21455676	-1	tier1	-	no_errors	ENST00000304425	ensembl	human	known	74_37	rna	10.00	36	4	SNP	0.000	T
MLX	6945	genome.wustl.edu	37	17	40719147	40719147	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:40719147C>G	ENST00000246912.4	+	1	58	c.5C>G	c.(4-6)aCg>aGg	p.T2R	MLX_ENST00000435881.2_Missense_Mutation_p.T2R|MLX_ENST00000346833.4_Missense_Mutation_p.T2R	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	2					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TACAAGATGACGGAGCCGGGC	0.766																																					GBM(121;657 1601 4665 24731 34640)												0													2.0	3.0	3.0					17																	40719147		1799	3640	5439	SO:0001583	missense	0			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.5C>G	17.37:g.40719147C>G	ENSP00000246912:p.Thr2Arg		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T2R	ENST00000246912.4	37	c.5	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525514	0.64860	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;T	0.81908	-1.52;-1.55;-1.35	6.04	6.04	0.98038	.	0.061372	0.64402	D	0.000005	D	0.83862	0.5346	N	0.19112	0.55	0.40942	D	0.98447	D;D;P	0.76494	0.979;0.999;0.928	B;P;P	0.62298	0.439;0.9;0.656	D	0.86104	0.1558	10	0.87932	D	0	-14.2114	16.0793	0.80989	0.0:1.0:0.0:0.0	.	2;2;2	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	R	2	ENSP00000320913:T2R;ENSP00000246912:T2R;ENSP00000416627:T2R	ENSP00000246912:T2R	T	+	2	0	MLX	37972673	1.000000	0.71417	0.972000	0.41901	0.236000	0.25371	3.814000	0.55643	2.873000	0.98535	0.561000	0.74099	ACG	MLX	-	NULL	ENSG00000108788		0.766	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1		0.00	12	0	C	NM_170607		40719147	+1			no_errors	ENST00000246912	ensembl	human	known	74_37	missense	50.00	2	2	SNP	1.000	G
MROH7	374977	genome.wustl.edu	37	1	55134607	55134607	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:55134607T>G	ENST00000421030.2	+	5	1671	c.1386T>G	c.(1384-1386)atT>atG	p.I462M	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.I462M|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Missense_Mutation_p.I30M|MROH7_ENST00000339553.5_Missense_Mutation_p.I462M|MROH7_ENST00000409996.1_Missense_Mutation_p.I30M|MROH7_ENST00000395690.2_Missense_Mutation_p.I462M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	462						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TAAAGAAGATTATGGTGGGGG	0.572																																																	0													52.0	52.0	52.0					1																	55134607		1850	4088	5938	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1386T>G	1.37:g.55134607T>G	ENSP00000396622:p.Ile462Met		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I462M	ENST00000421030.2	37	c.1386	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	T	9.671	1.146704	0.21288	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000395690	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	5.41	3.53	0.40419	Armadillo-like helical (1);	0.490245	0.20326	N	0.094531	T	0.01765	0.0056	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.37126	-0.9719	10	0.02654	T	1	.	7.3483	0.26676	0.088:0.0:0.7454:0.1666	.	462;462;30	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	462;30;487;462;30;462	ENSP00000396622:I462M;ENSP00000442333:I30M;ENSP00000343211:I462M;ENSP00000387048:I30M;ENSP00000379044:I462M	ENSP00000343211:I462M	I	+	3	3	HEATR8	54907195	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.383000	0.34385	1.270000	0.44297	-0.247000	0.11927	ATT	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1		0.00	49	0	T	NM_198547		55134607	+1			no_errors	ENST00000414150	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G
MSR1	4481	genome.wustl.edu	37	8	16012628	16012628	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:16012628delT	ENST00000262101.5	-	6	964	c.843delA	c.(841-843)aaafs	p.K281fs	MSR1_ENST00000381998.4_Frame_Shift_Del_p.K281fs|MSR1_ENST00000350896.3_Frame_Shift_Del_p.K281fs|MSR1_ENST00000355282.2_Frame_Shift_Del_p.K281fs|MSR1_ENST00000445506.2_Frame_Shift_Del_p.K299fs|MSR1_ENST00000536385.1_Frame_Shift_Del_p.K55fs			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	281	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCGATCTCCTTTTTCACCCG	0.403																																																	0													63.0	63.0	63.0					8																	16012628		2203	4300	6503	SO:0001589	frameshift_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.843delA	8.37:g.16012628delT	ENSP00000262101:p.Lys281fs		D3DSP3|O60505|P21759|Q45F10	Frame_Shift_Del	DEL	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.G282fs	ENST00000262101.5	37	c.843	CCDS5995.1	8																																																																																			MSR1	-	pfam_Collagen	ENSG00000038945		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2		0.00	84	0	T			16012628	-1	tier1		no_errors	ENST00000262101	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-
MSC	9242	genome.wustl.edu	37	8	72755971	72755971	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:72755971G>A	ENST00000325509.4	-	1	732	c.443C>T	c.(442-444)aCg>aTg	p.T148M	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	148	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T148M(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CAGCCGGAGCGTGTCCAGCTT	0.642											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	endometrium(1)											46.0	48.0	47.0					8																	72755971		2203	4300	6503	SO:0001583	missense	0				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.443C>T	8.37:g.72755971G>A	ENSP00000321445:p.Thr148Met	1140	O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T148M	ENST00000325509.4	37	c.443	CCDS43746.1	8	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966618	0.92855	.	.	ENSG00000178860	ENST00000325509	D	0.98381	-4.9	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99069	1.0833	10	0.87932	D	0	.	18.4569	0.90724	0.0:0.0:1.0:0.0	.	148	O60682	MUSC_HUMAN	M	148	ENSP00000321445:T148M	ENSP00000321445:T148M	T	-	2	0	MSC	72918525	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.634000	0.98435	2.365000	0.80145	0.555000	0.69702	ACG	MSC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000178860		0.642	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSC	HGNC	protein_coding	OTTHUMT00000378974.1	-	0.00	77	0	G	NM_005098		72755971	-1	tier1	-	no_errors	ENST00000325509	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	A
MTMR2	8898	genome.wustl.edu	37	11	95582865	95582865	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:95582865C>T	ENST00000346299.5	-	9	1306	c.966G>A	c.(964-966)cgG>cgA	p.R322R	MTMR2_ENST00000409459.1_Silent_p.R250R|MTMR2_ENST00000352297.7_Silent_p.R250R|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Silent_p.R250R	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	322	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R322R(1)|p.R250R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACACTTGGCCGGGCATCAA	0.408																																																	2	Substitution - coding silent(2)	large_intestine(2)											167.0	167.0	167.0					11																	95582865		2201	4298	6499	SO:0001819	synonymous_variant	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.966G>A	11.37:g.95582865C>T			A6NN98|Q9UPS9	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R322	ENST00000346299.5	37	c.966	CCDS8305.1	11																																																																																			MTMR2	-	pfam_Myotubularin-like_Pase_dom	ENSG00000087053		0.408	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1		0.00	69	0	C	NM_016156		95582865	-1			no_errors	ENST00000346299	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T
MTPAP	55149	genome.wustl.edu	37	10	30653804	30653804	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:30653804G>T	ENST00000358107.4	-	2	377	c.378C>A	c.(376-378)caC>caA	p.H126Q	RN7SL241P_ENST00000482973.2_RNA|AL161651.1_ENST00000408070.1_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAAGGGAGGGGTGCTCAGCTG	0.647																																																	0																																										SO:0001583	missense	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.378C>A	10.37:g.30653804G>T	ENSP00000350820:p.His126Gln		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	pfam_PAP_assoc	p.H126Q	ENST00000358107.4	37	c.378		10	.	.	.	.	.	.	.	.	.	.	.	11.74	1.727616	0.30593	.	.	ENSG00000107951	ENST00000358107	T	0.20881	2.04	0.436	-0.648	0.11464	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.19300	N	0.99997	P	0.35821	0.523	B	0.24541	0.054	T	0.16689	-1.0394	8	0.87932	D	0	.	3.7492	0.08559	0.6462:0.0:0.3538:0.0	.	126	Q9NVV4-2	.	Q	126	ENSP00000350820:H126Q	ENSP00000350820:H126Q	H	-	3	2	MTPAP	30693810	0.839000	0.29477	0.009000	0.14445	0.643000	0.38383	0.807000	0.27140	-0.395000	0.07715	0.205000	0.17691	CAC	MTPAP	-	NULL	ENSG00000107951		0.647	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		-	0.00	63	0	G	NM_018109		30653804	-1	tier1	-	no_errors	ENST00000358107	ensembl	human	known	74_37	missense	16.33	123	24	SNP	0.644	T
MUC16	94025	genome.wustl.edu	37	19	9070673	9070673	+	Silent	SNP	T	T	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:9070673T>A	ENST00000397910.4	-	3	16976	c.16773A>T	c.(16771-16773)ggA>ggT	p.G5591G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5593	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						AATGAGTCCCTCCCTGGAAAA	0.517																																																	0													153.0	142.0	145.0					19																	9070673		1981	4160	6141	SO:0001819	synonymous_variant	0			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.16773A>T	19.37:g.9070673T>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G5591	ENST00000397910.4	37	c.16773	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	83	0	T	NM_024690		9070673	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.001	A
MYH6	4624	genome.wustl.edu	37	14	23862683	23862683	+	Silent	SNP	G	G	T	rs374807345		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:23862683G>T	ENST00000356287.3	-	22	3002	c.2973C>A	c.(2971-2973)atC>atA	p.I991I	MYH6_ENST00000405093.3_Silent_p.I991I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	991					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAGCTTAGCGATGATTTCAT	0.522																																																	0													189.0	181.0	183.0					14																	23862683		2203	4300	6503	SO:0001819	synonymous_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2973C>A	14.37:g.23862683G>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I991	ENST00000356287.3	37	c.2973	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.522	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3		0.00	45	0	G			23862683	-1			no_errors	ENST00000356287	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.776	T
MYL7	58498	genome.wustl.edu	37	7	44179994	44179994	+	Missense_Mutation	SNP	C	C	T	rs150940284		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:44179994C>T	ENST00000223364.3	-	4	252	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.A49T	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	76						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TGCAGCATGGCGTCCAGCTCC	0.647																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	132.0	110.0	117.0		226	3.5	0.9	7	dbSNP_134	117	0,8600		0,0,4300	no	missense	MYL7	NM_021223.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	76/176	44179994	1,13005	2203	4300	6503	SO:0001583	missense	0			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.226G>A	7.37:g.44179994C>T	ENSP00000223364:p.Ala76Thr		B2R4L3	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A76T	ENST00000223364.3	37	c.226	CCDS5478.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.09|15.09	2.728727|2.728727	0.48833|0.48833	2.27E-4|2.27E-4	0.0|0.0	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;T;T;T;T|.	0.80304|.	-1.36;-1.25;-1.25;-1.25;2.95|.	4.46|4.46	3.55|3.55	0.40652|0.40652	EF-hand-like domain (1);|.	0.354604|.	0.28465|.	N|.	0.015247|.	T|T	0.63271|0.63271	0.2497|0.2497	L|L	0.59912|0.59912	1.85|1.85	0.35810|0.35810	D|D	0.823818|0.823818	B|.	0.17667|.	0.023|.	B|.	0.15870|.	0.014|.	T|T	0.68812|0.68812	-0.5310|-0.5310	10|5	0.37606|.	T|.	0.19|.	.|.	13.0738|13.0738	0.59075|0.59075	0.1624:0.8376:0.0:0.0|0.1624:0.8376:0.0:0.0	.|.	76|.	Q01449|.	MLRA_HUMAN|.	T|H	3;76;49;98;105|88	ENSP00000416010:A3T;ENSP00000223364:A76T;ENSP00000403360:A49T;ENSP00000389202:A98T;ENSP00000403988:A105T|.	ENSP00000223364:A76T|.	A|R	-|-	1|2	0|0	MYL7|MYL7	44146519|44146519	0.205000|0.205000	0.23458|0.23458	0.901000|0.901000	0.35422|0.35422	0.932000|0.932000	0.56968|0.56968	1.259000|1.259000	0.32956|0.32956	0.812000|0.812000	0.34326|0.34326	0.549000|0.549000	0.68633|0.68633	GCC|CGC	MYL7	-	NULL	ENSG00000106631		0.647	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4		0.00	56	0	C	NM_021223		44179994	-1			no_errors	ENST00000223364	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.977	T
MYO18B	84700	genome.wustl.edu	37	22	26224867	26224867	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:26224867G>A	ENST00000407587.2	+	15	3080	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A971T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A971T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	971	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAACTACGCCCATGAGCG	0.617																																																	0													75.0	82.0	80.0					22																	26224867		2066	4207	6273	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2911G>A	22.37:g.26224867G>A	ENSP00000386096:p.Ala971Thr		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A971T	ENST00000407587.2	37	c.2911		22	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451424	0.01080	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72725	-0.68;-0.68;-0.68	4.69	-3.17	0.05202	Myosin head, motor domain (2);	1.018460	0.07830	N	0.961185	T	0.54791	0.1880	L	0.43554	1.36	0.09310	N	1	B;B;B;B	0.17852	0.002;0.024;0.007;0.02	B;B;B;B	0.14023	0.001;0.01;0.003;0.006	T	0.47497	-0.9113	10	0.02654	T	1	.	10.3005	0.43650	0.4607:0.0:0.5393:0.0	.	484;971;971;971	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	971	ENSP00000441229:A971T;ENSP00000334563:A971T;ENSP00000386096:A971T	ENSP00000334563:A971T	A	+	1	0	MYO18B	24554867	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	-0.327000	0.07955	-0.690000	0.05142	-2.152000	0.00332	GCC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	23	0	G	NM_032608		26224867	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	69.57	13	32	SNP	0.000	A
MYO7B	4648	genome.wustl.edu	37	2	128350416	128350416	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:128350416G>A	ENST00000409816.2	+	16	2072	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	MYO7B_ENST00000428314.1_Missense_Mutation_p.M680I|MYO7B_ENST00000389524.4_Missense_Mutation_p.M680I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	680	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTCGGGCATGATGGAGACCG	0.657																																																	0													30.0	39.0	36.0					2																	128350416		2071	4191	6262	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2040G>A	2.37:g.128350416G>A	ENSP00000386461:p.Met680Ile		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M680I	ENST00000409816.2	37	c.2040	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915666	0.92178	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.68624	-0.34;-0.34;-0.34	4.93	4.93	0.64822	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.66506	2.035	0.58432	D	0.999997	D	0.63046	0.992	D	0.63033	0.91	T	0.82082	-0.0633	10	0.72032	D	0.01	.	18.494	0.90858	0.0:0.0:1.0:0.0	.	680	Q6PIF6	MYO7B_HUMAN	I	680	ENSP00000374175:M680I;ENSP00000415090:M680I;ENSP00000386461:M680I	ENSP00000374175:M680I	M	+	3	0	MYO7B	128066886	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.713000	0.84693	2.447000	0.82792	0.655000	0.94253	ATG	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000169994		0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0.00	53	0	G	XM_291001		128350416	+1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
MYOZ2	51778	genome.wustl.edu	37	4	120079211	120079211	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:120079211G>T	ENST00000307128.5	+	4	494	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AAAGTGGATGGAAGTAACTTG	0.443																																																	0													151.0	145.0	147.0					4																	120079211		2203	4300	6503	SO:0001583	missense	0			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.281G>T	4.37:g.120079211G>T	ENSP00000306997:p.Gly94Val			Missense_Mutation	SNP	pfam_Calsarcin-bd	p.G94V	ENST00000307128.5	37	c.281	CCDS3711.1	4	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968071	0.34754	.	.	ENSG00000172399	ENST00000307128	T	0.62639	0.01	5.55	3.81	0.43845	.	0.194409	0.44688	D	0.000439	T	0.53674	0.1811	L	0.52759	1.655	0.58432	D	0.999999	P	0.39352	0.669	B	0.38106	0.265	T	0.47289	-0.9129	10	0.32370	T	0.25	-11.2005	10.2709	0.43483	0.0694:0.2562:0.6744:0.0	.	94	Q9NPC6	MYOZ2_HUMAN	V	94	ENSP00000306997:G94V	ENSP00000306997:G94V	G	+	2	0	MYOZ2	120298659	0.862000	0.29867	0.916000	0.36221	0.872000	0.50106	1.243000	0.32767	0.691000	0.31592	0.655000	0.94253	GGA	MYOZ2	-	pfam_Calsarcin-bd	ENSG00000172399		0.443	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ2	HGNC	protein_coding	OTTHUMT00000256526.2		0.00	82	0	G			120079211	+1			no_errors	ENST00000307128	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.808	T
NACAD	23148	genome.wustl.edu	37	7	45120479	45120481	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:45120479_45120481delTCC	ENST00000490531.2	-	6	4564_4566	c.4545_4547delGGA	c.(4543-4548)gaggaa>gaa	p.1515_1516EE>E		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1515	Poly-Glu.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CTTCAcctcttcctcctcctcct	0.65																																																	0																																										SO:0001651	inframe_deletion	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4545_4547delGGA	7.37:g.45120488_45120490delTCC	ENSP00000420477:p.Glu1517del			In_Frame_Del	DEL	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.E1517in_frame_del	ENST00000490531.2	37	c.4547_4545	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.650	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2		0.00	19	0	TCC	NM_001146334		45120481	-1	tier1		no_errors	ENST00000490531	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	0.991:0.982:0.716	-
NCAM1	4684	genome.wustl.edu	37	11	113147558	113147558	+	3'UTR	DEL	G	G	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:113147558delG	ENST00000397957.4	+	0	4237				RP11-839D17.3_ENST00000533504.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000529416.1_RNA|RP11-839D17.3_ENST00000526487.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGGATGGGAGGGGGGGGAGA	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4234G>-	11.37:g.113147558delG			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	DEL	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-	ENSG00000149294		0.433	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2		0.00	63	0	G	NM_000615		113147558	+1	tier1		no_errors	ENST00000397957	ensembl	human	known	74_37	rna	54.55	5	6	DEL	0.998	-
NCKAP5	344148	genome.wustl.edu	37	2	133540573	133540573	+	Missense_Mutation	SNP	C	C	T	rs531375141	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:133540573C>T	ENST00000409261.1	-	14	4184	c.3811G>A	c.(3811-3813)Gcc>Acc	p.A1271T	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1271T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1271										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CGGGCTTTGGCGCCATTCATA	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		17238	0.0		0.001	False		,,,				2504	0.001																0													96.0	98.0	98.0					2																	133540573		2022	4177	6199	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3811G>A	2.37:g.133540573C>T	ENSP00000387128:p.Ala1271Thr		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A1271T	ENST00000409261.1	37	c.3811	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652193	0.88056	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.27402	1.67;1.67	5.5	5.5	0.81552	.	0.000000	0.38381	U	0.001708	T	0.46132	0.1377	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18808	-1.0325	10	0.41790	T	0.15	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	1271	O14513	NCKP5_HUMAN	T	1271	ENSP00000387128:A1271T;ENSP00000380603:A1271T	ENSP00000380603:A1271T	A	-	1	0	NCKAP5	133257043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.542000	0.73869	2.854000	0.98071	0.655000	0.94253	GCC	NCKAP5	-	NULL	ENSG00000176771		0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0.00	58	0	C	NM_207481		133540573	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
NCSTN	23385	genome.wustl.edu	37	1	160322740	160322740	+	Missense_Mutation	SNP	G	G	A	rs11547484		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:160322740G>A	ENST00000294785.5	+	9	1185	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.V334M|NCSTN_ENST00000368063.1_Missense_Mutation_p.V334M|NCSTN_ENST00000535857.1_Missense_Mutation_p.V216M|NCSTN_ENST00000368065.4_Missense_Mutation_p.V96M	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	354					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGTTTCCCGTGCAGTTAGA	0.483																																																	0													134.0	102.0	113.0					1																	160322740		2203	4300	6503	SO:0001583	missense	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1060G>A	1.37:g.160322740G>A	ENSP00000294785:p.Val354Met		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.V354M	ENST00000294785.5	37	c.1060	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211286	0.58343	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T	0.79352	-1.26;-1.25;-0.14;-0.27;-1.25	5.65	3.79	0.43588	.	0.193976	0.44285	D	0.000474	T	0.73273	0.3566	L	0.53780	1.695	0.48341	D	0.999633	D;D;D	0.71674	0.998;0.982;0.997	P;P;P	0.59643	0.861;0.454;0.766	T	0.74041	-0.3792	10	0.48119	T	0.1	-7.2611	7.7146	0.28698	0.1511:0.1351:0.7137:0.0	rs11547484	216;334;354	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	M	354;334;216;216;334;96;98	ENSP00000294785:V354M;ENSP00000357042:V334M;ENSP00000390409:V216M;ENSP00000442605:V216M;ENSP00000376047:V334M	ENSP00000294785:V354M	V	+	1	0	NCSTN	158589364	0.365000	0.25006	0.998000	0.56505	0.982000	0.71751	0.579000	0.23788	0.745000	0.32763	0.655000	0.94253	GTG	NCSTN	-	pfam_Nicastrin	ENSG00000162736		0.483	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	-	0.00	76	0	G	NM_015331		160322740	+1	tier1	rs11547484	no_errors	ENST00000294785	ensembl	human	known	74_37	missense	29.00	71	29	SNP	1.000	A
NEURL1B	54492	genome.wustl.edu	37	5	172113202	172113202	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:172113202G>A	ENST00000369800.5	+	4	1467	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	NEURL1B_ENST00000522853.1_Silent_p.T260T|NEURL1B_ENST00000520919.1_Silent_p.T202T	NM_001142651.1	NP_001136123.1	A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 1B	442	Ser-rich.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(2)	2						CTGCGACCACGACTCCATCAG	0.572																																																	0													69.0	68.0	68.0					5																	172113202		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47342.1	5q35.1	2013-10-24	2013-10-24		ENSG00000214357	ENSG00000214357			35422	protein-coding gene	gene with protein product		615893	"""neuralized homolog 1B (Drosophila)"""			17003037	Standard	NM_001142651		Approved	DKFZP761M1511, Neur2	uc003mbt.3	A8MQ27	OTTHUMG00000163281	ENST00000369800.5:c.1326G>A	5.37:g.172113202G>A			C9DQJ5|C9DQJ6|C9DQJ7	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.T442	ENST00000369800.5	37	c.1326	CCDS47342.1	5																																																																																			NEURL1B	-	NULL	ENSG00000214357		0.572	NEURL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL1B	HGNC	protein_coding	OTTHUMT00000372453.2	-	0.00	15	0	G			172113202	+1	tier1	-	no_errors	ENST00000369800	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.000	A
NLGN1	22871	genome.wustl.edu	37	3	173322865	173322865	+	Nonsense_Mutation	SNP	T	T	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:173322865T>A	ENST00000457714.1	+	3	906	c.477T>A	c.(475-477)taT>taA	p.Y159*	NLGN1_ENST00000361589.4_Nonsense_Mutation_p.Y159*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.Y159*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.Y159*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	159					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TAAATATATATGTCCCGACTG	0.343																																																	0													75.0	79.0	77.0					3																	173322865		2203	4300	6503	SO:0001587	stop_gained	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.477T>A	3.37:g.173322865T>A	ENSP00000392500:p.Tyr159*		Q9UPT2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.Y159*	ENST00000457714.1	37	c.477	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	42	9.795795	0.99266	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	.	.	.	5.62	3.08	0.35506	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6315	0.39782	0.0:0.1488:0.0:0.8512	.	.	.	.	X	159	.	ENSP00000354541:Y159X	Y	+	3	2	NLGN1	174805559	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.784000	0.26816	0.424000	0.26061	0.383000	0.25322	TAT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.343	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0.00	19	0	T	NM_014932		173322865	+1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	nonsense	38.46	8	5	SNP	1.000	A
NOS1	4842	genome.wustl.edu	37	12	117728207	117728207	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:117728207G>T	ENST00000338101.4	-	3	881	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	NOS1_ENST00000344089.3_Silent_p.P311P|NOS1_ENST00000317775.6_Missense_Mutation_p.P293T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCTTTGTGGGGGACTGTTTT	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													48.0	50.0	49.0					12																	117728207		1981	4157	6138	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.877C>A	12.37:g.117728207G>T	ENSP00000337459:p.Pro293Thr			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P293T	ENST00000338101.4	37	c.877	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375663	0.61735	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01474	4.93;4.85	5.13	5.13	0.70059	.	0.486738	0.22966	N	0.053488	T	0.06142	0.0159	L	0.59436	1.845	0.80722	D	1	P	0.52316	0.952	P	0.52957	0.714	T	0.44513	-0.9323	10	0.37606	T	0.19	-31.3084	18.7669	0.91876	0.0:0.0:1.0:0.0	.	293	P29475	NOS1_HUMAN	T	293	ENSP00000320758:P293T;ENSP00000337459:P293T	ENSP00000320758:P293T	P	-	1	0	NOS1	116212590	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	5.169000	0.64984	2.680000	0.91292	0.467000	0.42956	CCC	NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0.00	37	0	G			117728207	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T
NTN1	9423	genome.wustl.edu	37	17	9083223	9083223	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:9083223G>A	ENST00000173229.2	+	4	1414	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	NTN1_ENST00000546090.1_Missense_Mutation_p.R436H|RP11-85B7.2_ENST00000574307.2_RNA|NTN1_ENST00000538852.1_Missense_Mutation_p.R436H	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	436	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						ACCTGCAACCGCTGCGCCAAA	0.612																																																	0													70.0	59.0	63.0					17																	9083223		2203	4300	6503	SO:0001583	missense	0			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1307G>A	17.37:g.9083223G>A	ENSP00000173229:p.Arg436His		E9KL51	Missense_Mutation	SNP	pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.R436H	ENST00000173229.2	37	c.1307	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.623230	0.96660	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.77	5.77	0.91146	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80694	-0.1268	10	0.59425	D	0.04	.	19.9716	0.97286	0.0:0.0:1.0:0.0	.	436	O95631	NET1_HUMAN	H	436;436;436;56	ENSP00000173229:R436H;ENSP00000443259:R436H;ENSP00000441611:R436H;ENSP00000389375:R56H	ENSP00000173229:R436H	R	+	2	0	NTN1	9023948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.467000	0.97671	2.718000	0.92993	0.655000	0.94253	CGC	NTN1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000065320		0.612	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	HGNC	protein_coding	OTTHUMT00000252583.1	-	0.00	44	0	G			9083223	+1	tier1	-	no_errors	ENST00000173229	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
NTRK2	4915	genome.wustl.edu	37	9	87570289	87570289	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr9:87570289G>A	ENST00000323115.4	+	15	2334	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	NTRK2_ENST00000376213.1_Missense_Mutation_p.A661T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A677T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A677T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCAGCAGATCGCCGCGGGCAT	0.637										TSP Lung(25;0.17)																																							0													47.0	43.0	44.0					9																	87570289		2203	4300	6503	SO:0001583	missense	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1981G>A	9.37:g.87570289G>A	ENSP00000314586:p.Ala661Thr		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.A677T	ENST00000323115.4	37	c.2029	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.773433	0.96922	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.997	D	0.96764	0.9563	10	0.87932	D	0	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	661;677;707	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	T	677;661;677;661	ENSP00000365387:A677T;ENSP00000365386:A661T;ENSP00000277120:A677T;ENSP00000314586:A661T	ENSP00000277120:A677T	A	+	1	0	NTRK2	86760109	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	9.869000	0.99810	2.320000	0.78422	0.655000	0.94253	GCC	NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000148053		0.637	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0.00	46	0	G			87570289	+1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A
OR2L3	391192	genome.wustl.edu	37	1	248224767	248224767	+	Silent	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:248224767A>C	ENST00000359959.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACGTCCAAGATCCCTGCG	0.493																																																	0													111.0	105.0	107.0					1																	248224767		2203	4297	6500	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.784A>C	1.37:g.248224767A>C			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R262	ENST00000359959.3	37	c.784	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198128		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0.00	111	0	A	NM_001004687		248224767	+1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	88.10	10	74	SNP	0.000	C
PABPC4L	132430	genome.wustl.edu	37	4	135122092	135122092	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:135122092C>A	ENST00000421491.3	-	2	339	c.83G>T	c.(82-84)aGg>aTg	p.R28M	PABPC4L_ENST00000529122.2_Missense_Mutation_p.R86M			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	28	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						GCTGAACTTCCTGAACAGCAG	0.567																																																	0													83.0	80.0	81.0					4																	135122092		692	1591	2283	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.83G>T	4.37:g.135122092C>A	ENSP00000463233:p.Arg28Met			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R86M	ENST00000421491.3	37	c.257		4																																																																																			PABPC4L	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000254535		0.567	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	-	0.00	35	0	C	NM_001114734		135122092	-1	tier1	-	no_errors	ENST00000529122	ensembl	human	known	74_37	missense	62.50	6	10	SNP	0.996	A
PAK7	57144	genome.wustl.edu	37	20	9523256	9523256	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:9523256G>T	ENST00000378429.3	-	10	2527	c.1981C>A	c.(1981-1983)Cca>Aca	p.P661T	PAK7_ENST00000378423.1_Missense_Mutation_p.P661T|PAK7_ENST00000353224.5_Missense_Mutation_p.P661T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCACTCTTGGAGGTAAACTG	0.493																																																	0													153.0	154.0	153.0					20																	9523256		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1981C>A	20.37:g.9523256G>T	ENSP00000367686:p.Pro661Thr		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.P661T	ENST00000378429.3	37	c.1981	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981325	0.93044	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.64618	-0.11;-0.11;-0.11	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75300	-0.3366	9	.	.	.	.	19.3557	0.94412	0.0:0.0:1.0:0.0	.	661	Q9P286	PAK7_HUMAN	T	661	ENSP00000367686:P661T;ENSP00000322957:P661T;ENSP00000367679:P661T	.	P	-	1	0	PAK7	9471256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.003000	0.88520	2.597000	0.87782	0.655000	0.94253	CCA	PAK7	-	pfam_Prot_kinase_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_dom	ENSG00000101349		0.493	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0.00	30	0	G			9523256	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T
PARD6G	84552	genome.wustl.edu	37	18	77917939	77917939	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:77917939C>T	ENST00000353265.3	-	3	1043	c.846G>A	c.(844-846)ccG>ccA	p.P282P	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	282					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGGACGCGCGGGGCGGGGG	0.731																																																	0													12.0	14.0	13.0					18																	77917939		2161	4203	6364	SO:0001819	synonymous_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.846G>A	18.37:g.77917939C>T			A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.P282	ENST00000353265.3	37	c.846	CCDS12022.1	18																																																																																			PARD6G	-	NULL	ENSG00000178184		0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	-	0.00	29	0	C	NM_032510		77917939	-1	tier1	-	no_errors	ENST00000353265	ensembl	human	known	74_37	silent	41.67	7	5	SNP	0.009	T
PAX1	5075	genome.wustl.edu	37	20	21689953	21689953	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:21689953G>A	ENST00000398485.2	+	4	1207	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.G361S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	385					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCGGGCGGCGGCTACCTCGC	0.771																																																	0													17.0	23.0	21.0					20																	21689953		2121	4173	6294	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1153G>A	20.37:g.21689953G>A	ENSP00000381499:p.Gly385Ser		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.G385S	ENST00000398485.2	37	c.1153	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555573	0.86231	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98474	-4.53;-4.95	5.66	3.47	0.39725	.	.	.	.	.	D	0.95452	0.8523	L	0.60455	1.87	0.42996	D	0.994504	P;B;B	0.37038	0.579;0.083;0.349	B;B;B	0.27170	0.077;0.009;0.019	D	0.92372	0.5906	9	0.38643	T	0.18	.	9.1632	0.37035	0.2663:0.0:0.7337:0.0	.	361;291;385	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	385;361	ENSP00000381499:G385S;ENSP00000410355:G361S	ENSP00000381499:G385S	G	+	1	0	PAX1	21637953	0.965000	0.33210	0.998000	0.56505	0.693000	0.40251	1.624000	0.37018	0.558000	0.29135	0.462000	0.41574	GGC	PAX1	-	NULL	ENSG00000125813		0.771	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	24	0	G			21689953	+1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744933	140744933	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:140744933G>A	ENST00000518069.1	+	1	1036	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E346K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCCCCCGAAGTGATCCT	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											100.0	103.0	102.0					5																	140744933		2098	4246	6344	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1036G>A	5.37:g.140744933G>A	ENSP00000429834:p.Glu346Lys		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E346K	ENST00000518069.1	37	c.1036	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010101	0.54361	.	.	ENSG00000253485	ENST00000518069	T	0.38401	1.14	5.52	4.66	0.58398	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.53498	0.1800	L	0.47078	1.49	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.47420	-0.9119	9	0.62326	D	0.03	.	14.3276	0.66530	0.0722:0.0:0.9278:0.0	.	346;346	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	K	346	ENSP00000429834:E346K	ENSP00000429834:E346K	E	+	1	0	PCDHGA5	140725117	0.018000	0.18449	0.814000	0.32528	0.971000	0.66376	1.454000	0.35178	1.478000	0.48253	-0.253000	0.11424	GAA	PCDHGA5	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253485		0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	65	0	G	NM_018918		140744933	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.081	A
PCNXL2	80003	genome.wustl.edu	37	1	233394952	233394952	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:233394952G>T	ENST00000258229.9	-	5	890	c.656C>A	c.(655-657)gCc>gAc	p.A219D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	219						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGTTTCTGTGGCAACTGGTTT	0.502																																																	0													117.0	119.0	119.0					1																	233394952		1961	4156	6117	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.656C>A	1.37:g.233394952G>T	ENSP00000258229:p.Ala219Asp		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.A219D	ENST00000258229.9	37	c.656	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369513	0.24771	.	.	ENSG00000135749	ENST00000258229	T	0.63417	-0.04	4.38	-0.187	0.13268	.	.	.	.	.	T	0.40119	0.1104	N	0.19112	0.55	0.09310	N	0.999999	B	0.32245	0.361	B	0.26416	0.069	T	0.20505	-1.0273	9	0.54805	T	0.06	.	5.7782	0.18292	0.3252:0.1435:0.5313:0.0	.	219	A6NKB5	PCX2_HUMAN	D	219	ENSP00000258229:A219D	ENSP00000258229:A219D	A	-	2	0	PCNXL2	231461575	0.001000	0.12720	0.000000	0.03702	0.070000	0.16714	1.033000	0.30191	-0.126000	0.11682	0.561000	0.74099	GCC	PCNXL2	-	NULL	ENSG00000135749		0.502	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3		0.00	59	0	G	NM_014801		233394952	-1			no_errors	ENST00000258229	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T
PHLPP1	23239	genome.wustl.edu	37	18	60527681	60527681	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr18:60527681G>A	ENST00000262719.5	+	4	2147	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R126H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	638					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCATCCCAGCGCATTAGCTCA	0.403																																																	0													53.0	51.0	52.0					18																	60527681		1945	4149	6094	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1913G>A	18.37:g.60527681G>A	ENSP00000262719:p.Arg638His		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.R638H	ENST00000262719.5	37	c.1913	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	36	5.606626	0.96626	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.25250	1.81;1.81	5.65	5.65	0.86999	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.	.	.	.	T	0.42585	0.1209	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.14952	-1.0454	9	0.62326	D	0.03	-17.205	19.9142	0.97043	0.0:0.0:1.0:0.0	.	638	O60346	PHLP1_HUMAN	H	126;638	ENSP00000383170:R126H;ENSP00000262719:R638H	ENSP00000262719:R638H	R	+	2	0	PHLPP1	58678661	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.178000	0.77657	2.941000	0.99782	0.655000	0.94253	CGC	PHLPP1	-	NULL	ENSG00000081913		0.403	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0.00	47	0	G	NM_194449		60527681	+1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A
PLA2G6	8398	genome.wustl.edu	37	22	38531018	38531018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:38531018delG	ENST00000332509.3	-	6	1054	c.871delC	c.(871-873)ctcfs	p.L291fs	PLA2G6_ENST00000402064.1_Frame_Shift_Del_p.L291fs|PLA2G6_ENST00000335539.3_Frame_Shift_Del_p.L291fs	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	291					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCCCAGTGGAGGGGGCTGGCT	0.662																																																	0													49.0	50.0	50.0					22																	38531018		2203	4300	6503	SO:0001589	frameshift_variant	0			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.871delC	22.37:g.38531018delG	ENSP00000333142:p.Leu291fs		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L291fs	ENST00000332509.3	37	c.871	CCDS13967.1	22																																																																																			PLA2G6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000184381		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1		0.00	59	0	G	NM_001004426		38531018	-1	tier1		no_errors	ENST00000332509	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-
PLXND1	23129	genome.wustl.edu	37	3	129292499	129292499	+	Silent	SNP	G	G	A	rs370338586		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:129292499G>A	ENST00000324093.4	-	13	2953	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	PLXND1_ENST00000393239.1_Silent_p.H925H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	925	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCACACGCCGTGGGCCACGT	0.647																																					Ovarian(97;366 1484 3738 22084 39045)												0								G		0,4406		0,0,2203	59.0	51.0	53.0		2775	-4.9	0.2	3		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXND1	NM_015103.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		925/1926	129292499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2775C>T	3.37:g.129292499G>A			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.H925	ENST00000324093.4	37	c.2775	CCDS33854.1	3																																																																																			PLXND1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000004399		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4		0.00	56	0	G	NM_015103		129292499	-1			no_errors	ENST00000324093	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.000	A
PLSCR5	389158	genome.wustl.edu	37	3	146307513	146307513	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:146307513T>C	ENST00000443512.1	-	6	1707	c.704A>G	c.(703-705)aAt>aGt	p.N235S	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N223S|PLSCR5_ENST00000492200.1_Missense_Mutation_p.N235S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	235										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AATTCCGAAATTGTCAGCATT	0.373																																																	0													150.0	142.0	145.0					3																	146307513		1884	4109	5993	SO:0001583	missense	0			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.704A>G	3.37:g.146307513T>C	ENSP00000390111:p.Asn235Ser		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.N235S	ENST00000443512.1	37	c.704	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498769	0.85069	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.28895	1.59;1.59;1.59	5.66	5.66	0.87406	Tubby, C-terminal (1);	.	.	.	.	T	0.62780	0.2456	M	0.88181	2.935	0.45883	D	0.998734	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.893	T	0.69837	-0.5037	9	0.59425	D	0.04	-15.1968	15.8893	0.79279	0.0:0.0:0.0:1.0	.	223;235	B2RXK5;A0PG75	.;PLS5_HUMAN	S	235;223;235	ENSP00000417184:N235S;ENSP00000418626:N223S;ENSP00000390111:N235S	ENSP00000390111:N235S	N	-	2	0	PLSCR5	147790203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.655000	0.83696	2.153000	0.67306	0.528000	0.53228	AAT	PLSCR5	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000231213		0.373	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1	-	0.00	45	0	T	XM_371670		146307513	-1	tier1	-	no_errors	ENST00000443512	ensembl	human	known	74_37	missense	78.85	11	41	SNP	1.000	C
POLN	353497	genome.wustl.edu	37	4	2214842	2214842	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:2214842T>A	ENST00000511885.2	-	4	498	c.145A>T	c.(145-147)Ata>Tta	p.I49L	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.I49L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	49					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GACTTGTTTATCACTTCCATA	0.308								DNA polymerases (catalytic subunits)																																									0													136.0	125.0	129.0					4																	2214842		2199	4299	6498	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.145A>T	4.37:g.2214842T>A	ENSP00000435506:p.Ile49Leu		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.I49L	ENST00000511885.2	37	c.145	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	T	4.758	0.140905	0.09083	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.04654	3.58;3.58	3.45	-1.74	0.08056	.	1.028740	0.07769	N	0.951437	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B	0.18863	0.031;0.017	B;B	0.11329	0.006;0.006	T	0.46289	-0.9202	10	0.38643	T	0.18	0.2927	4.0467	0.09776	0.0:0.4235:0.2074:0.3691	.	49;49	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	L	49	ENSP00000435506:I49L;ENSP00000372316:I49L	ENSP00000372316:I49L	I	-	1	0	POLN	2184640	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.188000	0.09642	-0.317000	0.08677	0.454000	0.30748	ATA	POLN	-	NULL	ENSG00000130997		0.308	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	-	0.00	44	0	T	NM_181808		2214842	-1	tier1	-	no_errors	ENST00000382865	ensembl	human	known	74_37	missense	77.27	5	17	SNP	0.000	A
POLR3D	661	genome.wustl.edu	37	8	22106032	22106033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:22106032_22106033insA	ENST00000397802.4	+	5	740_741	c.525_526insA	c.(526-528)atgfs	p.M176fs	POLR3D_ENST00000306433.4_Frame_Shift_Ins_p.M176fs			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	176					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACACTCGAAATATGCCTGTGCA	0.535																																																	0																																										SO:0001589	frameshift_variant	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.526dupA	8.37:g.22106033_22106033dupA	ENSP00000380904:p.Met176fs		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Frame_Shift_Ins	INS	pfam_RPC4	p.M175fs	ENST00000397802.4	37	c.525_526	CCDS34858.1	8																																																																																			POLR3D	-	NULL	ENSG00000168495		0.535	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2		0.00	35	0	-	NM_001722		22106033	+1	tier1		no_errors	ENST00000397802	ensembl	human	known	74_37	frame_shift_ins	26.09	17	6	INS	1.000:1.000	A
POTEB2	100287399	genome.wustl.edu	37	15	21071315	21071315	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:21071315C>T	ENST00000454856.4	-	1	328	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	99								p.R99H(1)									ATCTTCTCGACGGACGTGGTA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											1.0	1.0	1.0					15																	21071315		53	386	439	SO:0001583	missense	0				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.296G>A	15.37:g.21071315C>T	ENSP00000456953:p.Arg99His			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R99H	ENST00000454856.4	37	c.296	CCDS59248.1	15																																																																																			POTEB2	-	NULL	ENSG00000230031		0.587	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEB2	HGNC	protein_coding	OTTHUMT00000471435.1	-	0.00	25	0	C			21071315	-1	tier1	-	no_errors	ENST00000454856	ensembl	human	known	74_37	missense	40.32	37	25	SNP	0.002	T
PPEF2	5470	genome.wustl.edu	37	4	76797687	76797687	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:76797687G>T	ENST00000286719.7	-	11	1429	c.1073C>A	c.(1072-1074)cCc>cAc	p.P358H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	358	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGCCGAAGGGGCGAAGAGGG	0.627																																					NSCLC(105;1359 1603 15961 44567 47947)												0													62.0	63.0	63.0					4																	76797687		2203	4300	6503	SO:0001583	missense	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1073C>A	4.37:g.76797687G>T	ENSP00000286719:p.Pro358His		O14831	Missense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.P358H	ENST00000286719.7	37	c.1073	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025877	0.19512	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.39406	1.08	4.7	2.95	0.34219	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	1.627000	0.03523	N	0.221257	T	0.41073	0.1143	N	0.14661	0.345	0.09310	N	1	P;P	0.47677	0.899;0.832	P;P	0.54460	0.639;0.753	T	0.27673	-1.0067	10	0.62326	D	0.03	-14.0192	4.8382	0.13474	0.1931:0.1791:0.6277:0.0	.	358;358	O14830-2;O14830	.;PPE2_HUMAN	H	358	ENSP00000286719:P358H	ENSP00000286719:P358H	P	-	2	0	PPEF2	77016711	0.212000	0.23540	0.001000	0.08648	0.002000	0.02628	1.500000	0.35682	0.416000	0.25844	0.491000	0.48974	CCC	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase	ENSG00000156194		0.627	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	-	0.00	36	0	G	NM_006239		76797687	-1	tier1	-	no_errors	ENST00000286719	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.001	T
PPID	5481	genome.wustl.edu	37	4	159642595	159642595	+	Silent	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:159642595G>T	ENST00000307720.3	-	2	233	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	42	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CCGCAGTTTTGGGTACGATAT	0.378																																																	0													98.0	94.0	96.0					4																	159642595		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.126C>A	4.37:g.159642595G>T			B2R9V2	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.P42	ENST00000307720.3	37	c.126	CCDS3801.1	4																																																																																			PPID	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000171497		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	-	0.00	78	0	G	NM_005038		159642595	-1	tier1	-	no_errors	ENST00000307720	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.997	T
PRICKLE2	166336	genome.wustl.edu	37	3	64084116	64084116	+	3'UTR	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:64084116A>G	ENST00000295902.6	-	0	3731				PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_3'UTR	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTTTGAAAAAGGTCTCACTG	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.*611T>C	3.37:g.64084116A>G			Q0VF44	RNA	SNP	-	NULL	ENST00000295902.6	37	NULL	CCDS2902.1	3																																																																																			RP11-129B22.1	-	-	ENSG00000241111		0.353	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2-AS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000352219.1	-	0.00	65	0	A	NM_198859		64084116	+1	tier1	-	no_errors	ENST00000482609	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.602	G
PRKAG3	53632	genome.wustl.edu	37	2	219688556	219688556	+	Missense_Mutation	SNP	C	C	A	rs144562493	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:219688556C>A	ENST00000529249.1	-	13	1714	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	PRKAG3_ENST00000545803.1_Missense_Mutation_p.V283L|PRKAG3_ENST00000439262.2_Missense_Mutation_p.V442L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	467	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AGGGAGACCACGCCCAAGAGA	0.612																																																	0													133.0	107.0	116.0					2																	219688556		2203	4300	6503	SO:0001583	missense	0			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1399G>T	2.37:g.219688556C>A	ENSP00000436068:p.Val467Leu		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.V467L	ENST00000529249.1	37	c.1399	CCDS2424.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255120	0.80135	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.93659	-3.26;-3.26;-3.26	5.21	3.4	0.38934	Cystathionine beta-synthase, core (3);	0.118078	0.56097	D	0.000033	D	0.91355	0.7273	L	0.28556	0.865	0.80722	D	1	D	0.54964	0.969	P	0.58172	0.834	D	0.89594	0.3830	10	0.54805	T	0.06	-16.0174	5.989	0.19450	0.0:0.659:0.0:0.341	.	467	Q9UGI9	AAKG3_HUMAN	L	442;283;467	ENSP00000397133:V442L;ENSP00000444536:V283L;ENSP00000436068:V467L	ENSP00000233944:V467L	V	-	1	0	PRKAG3	219396800	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.592000	0.53993	1.183000	0.42943	0.561000	0.74099	GTG	PRKAG3	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000115592		0.612	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRKAG3	HGNC	protein_coding	OTTHUMT00000385992.1		0.00	40	0	C			219688556	-1			no_errors	ENST00000233944	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.996	A
PROKR2	128674	genome.wustl.edu	37	20	5283203	5283203	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:5283203G>T	ENST00000217270.3	-	2	637	c.638C>A	c.(637-639)cCt>cAt	p.P213H	PROKR2_ENST00000546004.1_Missense_Mutation_p.P213H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	213					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.P213H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGATCCACAGGCCAGATCTG	0.512										HNSCC(71;0.22)																																							1	Substitution - Missense(1)	lung(1)											142.0	133.0	136.0					20																	5283203		2203	4300	6503	SO:0001583	missense	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.638C>A	20.37:g.5283203G>T	ENSP00000217270:p.Pro213His		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P213H	ENST00000217270.3	37	c.638	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729810	0.69074	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39056	1.1;1.1	5.31	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.206514	0.51477	D	0.000083	T	0.66694	0.2815	M	0.86953	2.85	0.43334	D	0.995378	D	0.63880	0.993	D	0.66084	0.941	T	0.73701	-0.3900	10	0.87932	D	0	.	13.6244	0.62155	0.0:0.1566:0.8434:0.0	.	213	Q8NFJ6	PKR2_HUMAN	H	213	ENSP00000440790:P213H;ENSP00000217270:P213H	ENSP00000217270:P213H	P	-	2	0	PROKR2	5231203	1.000000	0.71417	0.797000	0.32132	0.992000	0.81027	9.294000	0.96088	1.210000	0.43336	0.655000	0.94253	CCT	PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000101292		0.512	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1		0.00	60	0	G	NM_144773		5283203	-1			no_errors	ENST00000217270	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	T
PTPRZ1	5803	genome.wustl.edu	37	7	121678904	121678904	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:121678904A>C	ENST00000393386.2	+	19	5874	c.5463A>C	c.(5461-5463)gaA>gaC	p.E1821D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E954D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1821	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATGTGGAAGTTATTGTCA	0.388																																																	0													118.0	111.0	113.0					7																	121678904		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5463A>C	7.37:g.121678904A>C	ENSP00000377047:p.Glu1821Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.E1821D	ENST00000393386.2	37	c.5463	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699191	0.68501	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83837	-1.77;-1.77	5.68	4.52	0.55395	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	T	0.81317	0.4797	N	0.21508	0.67	0.31959	N	0.608654	P;B;D	0.67145	0.885;0.442;0.996	B;P;P	0.62885	0.392;0.597;0.908	T	0.80317	-0.1433	10	0.31617	T	0.26	.	8.9091	0.35541	0.8563:0.0:0.1437:0.0	.	960;954;1821	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	1821;954	ENSP00000377047:E1821D;ENSP00000410000:E954D	ENSP00000377047:E1821D	E	+	3	2	PTPRZ1	121466140	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	0.913000	0.28611	0.977000	0.38444	0.528000	0.53228	GAA	PTPRZ1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000106278		0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0.00	82	0	A	NM_002851		121678904	+1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	72.46	19	50	SNP	1.000	C
FDX1L	112812	genome.wustl.edu	37	19	10429038	10429038	+	5'Flank	DEL	G	G	-	rs550451618		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:10429038delG	ENST00000393708.3	-	0	0				FDX1L_ENST00000494368.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_5'Flank|FDX1L_ENST00000541276.1_5'Flank|CTD-2369P2.12_ENST00000586529.1_Frame_Shift_Del_p.P38fs|RAVER1_ENST00000293677.6_Frame_Shift_Del_p.P637fs|FDX1L_ENST00000492239.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCACTGGGCGGGGGGGACAT	0.607																																																	0													8.0	11.0	10.0					19																	10429038		1922	4094	6016	SO:0001631	upstream_gene_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10429038delG	Exception_encountered		Q8N8B8	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P636fs	ENST00000393708.3	37	c.1907	CCDS32905.1	19																																																																																			RAVER1	-	NULL	ENSG00000161847		0.607	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000280567.2		0.00	125	0	G			10429038	-1	tier1		no_errors	ENST00000293677	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.986	-
RBM39	9584	genome.wustl.edu	37	20	34330056	34330056	+	5'Flank	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:34330056A>G	ENST00000253363.6	-	0	0				RBM39_ENST00000463098.1_5'UTR|RBM39_ENST00000397370.3_5'UTR|RBM39_ENST00000528062.3_5'UTR|RBM39_ENST00000361162.6_5'UTR|RBM39_ENST00000407261.4_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CAATGGAATTAGAGAAGCCCA	0.612																																																	0																																										SO:0001631	upstream_gene_variant	0			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358		20.37:g.34330056A>G	Exception_encountered		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	RNA	SNP	-	NULL	ENST00000253363.6	37	NULL	CCDS13266.1	20																																																																																			RBM39	-	-	ENSG00000131051		0.612	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	-	0.00	76	0	A	NM_184237		34330056	-1	tier1	-	no_errors	ENST00000442447	ensembl	human	known	74_37	rna	25.81	23	8	SNP	0.945	G
RETNLB	84666	genome.wustl.edu	37	3	108475993	108475993	+	Missense_Mutation	SNP	G	G	A	rs5851607|rs368497660	byFrequency	TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:108475993G>A	ENST00000295755.6	-	1	238	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	14					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGGAGAAGGGGGATTAGG	0.507																																																	0													70.0	63.0	65.0					3																	108475993		2203	4300	6503	SO:0001583	missense	0			AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.40C>T	3.37:g.108475993G>A	ENSP00000295755:p.Leu14Phe		Q14D27	Missense_Mutation	SNP	pfam_Resistin,superfamily_Resistin	p.L14F	ENST00000295755.6	37	c.40	CCDS2953.1	3	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083339	0.36758	.	.	ENSG00000163515	ENST00000295755	T	0.55234	0.53	4.06	2.23	0.28157	.	0.476032	0.17661	N	0.166329	T	0.42720	0.1215	L	0.51422	1.61	0.29432	N	0.859773	B	0.22080	0.064	B	0.20384	0.029	T	0.43343	-0.9397	10	0.72032	D	0.01	-6.3502	5.7101	0.17931	0.1101:0.1974:0.6925:0.0	.	14	Q9BQ08	RETNB_HUMAN	F	14	ENSP00000295755:L14F	ENSP00000295755:L14F	L	-	1	0	RETNLB	109958683	0.165000	0.22948	0.428000	0.26697	0.412000	0.31113	0.176000	0.16782	0.366000	0.24427	-0.150000	0.13652	CTT	RETNLB	-	pfam_Resistin	ENSG00000163515		0.507	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	HGNC	protein_coding	OTTHUMT00000355093.1		0.00	56	0	G			108475993	-1			no_errors	ENST00000295755	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.952	A
RFPL3	10738	genome.wustl.edu	37	22	32754182	32754182	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:32754182G>A	ENST00000249007.4	+	1	329	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.V13I|RFPL3_ENST00000397468.1_Missense_Mutation_p.V13I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	42							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGCTGTCCCGTCTGCTCAGA	0.517																																																	0													88.0	88.0	88.0					22																	32754182		2203	4298	6501	SO:0001583	missense	0			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.124G>A	22.37:g.32754182G>A	ENSP00000249007:p.Val42Ile		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V42I	ENST00000249007.4	37	c.124	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438668	0.01098	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.10763	2.84;2.84;2.84	0.851	-1.7	0.08159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.03477	0.0100	N	0.05351	-0.065	0.19575	N	0.999966	B	0.32324	0.364	B	0.26416	0.069	T	0.42816	-0.9429	9	0.09843	T	0.71	.	4.4715	0.11715	0.4695:0.0:0.5305:0.0	.	42	O75679	RFPL3_HUMAN	I	13;42;13	ENSP00000380609:V13I;ENSP00000249007:V42I;ENSP00000371520:V13I	ENSP00000249007:V42I	V	+	1	0	RFPL3	31084182	0.603000	0.26924	0.010000	0.14722	0.252000	0.25951	-0.047000	0.11963	-0.866000	0.04068	-1.050000	0.02344	GTC	RFPL3	-	pfscan_Znf_RING	ENSG00000128276		0.517	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	-	0.00	111	0	G	NM_006604		32754182	+1	tier1	-	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	66.00	17	33	SNP	0.913	A
RHPN1	114822	genome.wustl.edu	37	8	144457755	144457755	+	Silent	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr8:144457755C>T	ENST00000289013.6	+	2	194	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	31					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TCCAGTGCGGCCAGCTGCAGA	0.667																																																	0													25.0	32.0	30.0					8																	144457755		2126	4233	6359	SO:0001819	synonymous_variant	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.93C>T	8.37:g.144457755C>T			Q8TAV1|Q96PV9	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.G31	ENST00000289013.6	37	c.93	CCDS47927.1	8																																																																																			RHPN1	-	superfamily_HR1_rho-bd	ENSG00000158106		0.667	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0.00	82	0	C			144457755	+1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	silent	5.50	103	6	SNP	1.000	T
GOLGA8UP	100507067	genome.wustl.edu	37	15	31092399	31092399	+	RNA	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:31092399C>T	ENST00000408452.1	+	0	0				RN7SL82P_ENST00000463782.2_RNA																							TTGGAAGAGACCTTTAGAACA	0.582																																																	0																																												0																															15.37:g.31092399C>T				RNA	SNP	-	NULL	ENST00000408452.1	37	NULL		15																																																																																			RN7SL82P	-	-	ENSG00000241266		0.582	AC004460.1-201	NOVEL	basic	miRNA	RN7SL82P	HGNC	miRNA		-	0.00	27	0	C			31092399	+1	tier1	-	no_errors	ENST00000463782	ensembl	human	known	74_37	rna	47.22	19	17	SNP	0.015	T
RPS6KA6	27330	genome.wustl.edu	37	X	83351266	83351266	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:83351266C>T	ENST00000262752.2	-	20	1914	c.1907G>A	c.(1906-1908)cGt>cAt	p.R636H	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R636H	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	636	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATTGCCTATACGCAGCAGTAT	0.363																																																	0													79.0	66.0	71.0					X																	83351266		2203	4300	6503	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1907G>A	X.37:g.83351266C>T	ENSP00000262752:p.Arg636His		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.R636H	ENST00000262752.2	37	c.1907	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464452	0.63513	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66815	-0.23;-0.23	4.97	1.22	0.21188	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.261494	0.39274	N	0.001420	T	0.52837	0.1759	L	0.41124	1.26	0.80722	D	1	P;P	0.48162	0.906;0.589	B;B	0.39935	0.314;0.157	T	0.50882	-0.8775	10	0.87932	D	0	.	9.3729	0.38266	0.0:0.6956:0.0:0.3044	.	636;636	B7ZL90;Q9UK32	.;KS6A6_HUMAN	H	636	ENSP00000262752:R636H;ENSP00000440830:R636H	ENSP00000262752:R636H	R	-	2	0	RPS6KA6	83237922	0.990000	0.36364	0.775000	0.31657	0.813000	0.45954	2.578000	0.46051	-0.111000	0.12001	-0.268000	0.10319	CGT	RPS6KA6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000072133		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0.00	67	0	C	NM_014496		83351266	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.998	T
SCAMP4	113178	genome.wustl.edu	37	19	1923186	1923186	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:1923186G>T	ENST00000316097.8	+	6	780	c.513G>T	c.(511-513)aaG>aaT	p.K171N	SCAMP4_ENST00000409472.1_Splice_Site_p.K137N|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	171					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|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)		CGATCATGAAGGTGAGTCCTC	0.602																																																	0													42.0	44.0	44.0					19																	1923186		2034	3966	6000	SO:0001630	splice_region_variant	0			AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"""Secretory carrier membrane proteins"""	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.513+1G>T	19.37:g.1923186G>T			Q8N2N1|Q8NAV0	Missense_Mutation	SNP	pfam_SCAMP	p.K171N	ENST00000316097.8	37	c.513	CCDS45903.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.5|24.5	4.541566|4.541566	0.85917|0.85917	.|.	.|.	ENSG00000227500|ENSG00000227500	ENST00000316097;ENST00000409472|ENST00000414057	T;T|.	0.19394|.	2.15;2.15|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|.	.|.	.|.	.|.	T|T	0.77505|0.77505	0.4140|0.4140	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	P;D|.	0.53151|.	0.907;0.958|.	P;P|.	0.60473|.	0.733;0.875|.	T|T	0.79376|0.79376	-0.1829|-0.1829	9|5	0.66056|.	D|.	0.02|.	-15.1836|-15.1836	17.1307|17.1307	0.86725|0.86725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;171|.	Q969E2-2;Q969E2|.	.;SCAM4_HUMAN|.	N|M	171;137|181	ENSP00000316007:K171N;ENSP00000386865:K137N|.	ENSP00000316007:K171N|.	K|R	+|+	3|2	2|0	SCAMP4|SCAMP4	1874186|1874186	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.562000|0.562000	0.35680|0.35680	7.798000|7.798000	0.85924|0.85924	2.269000|2.269000	0.75478|0.75478	0.650000|0.650000	0.86243|0.86243	AAG|AGG	SCAMP4	-	pfam_SCAMP	ENSG00000227500		0.602	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP4	HGNC	protein_coding	OTTHUMT00000336210.3	-	0.00	38	0	G	NM_079834	Missense_Mutation	1923186	+1	tier1	-	no_errors	ENST00000316097	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T
SEPT1	1731	genome.wustl.edu	37	16	30391324	30391324	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:30391324G>A	ENST00000571393.1	-	8	775	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	SEPT1_ENST00000605106.1_Missense_Mutation_p.H202Y|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Missense_Mutation_p.H244Y			Q8WYJ6	SEPT1_HUMAN	septin 1	197	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGGTAGATGTGGATCTCCTCT	0.488																																																	0													144.0	124.0	131.0					16																	30391324		2197	4300	6497	SO:0001583	missense	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.589C>T	16.37:g.30391324G>A	ENSP00000460441:p.His197Tyr		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.H244Y	ENST00000571393.1	37	c.730		16	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537716	0.45176	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.69	4.6	0.57074	.	0.172029	0.41097	D	0.000960	T	0.36580	0.0972	L	0.28400	0.85	0.26730	N	0.970606	B	0.33448	0.412	B	0.39805	0.31	T	0.35201	-0.9798	9	0.72032	D	0.01	.	11.443	0.50107	0.0:0.0:0.2997:0.7003	.	197	Q8WYJ6	SEPT1_HUMAN	Y	197	.	ENSP00000324511:H197Y	H	-	1	0	SEPT1	30298825	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.947000	0.49058	1.016000	0.39470	-0.271000	0.10264	CAC	SEPT1	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000180096		0.488	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		-	0.00	41	0	G	NM_052838		30391324	-1	tier1	-	no_errors	ENST00000321367	ensembl	human	known	74_37	missense	53.33	7	8	SNP	1.000	A
SH3BP5	9467	genome.wustl.edu	37	3	15311298	15311298	+	Silent	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:15311298G>T	ENST00000383791.3	-	4	637	c.417C>A	c.(415-417)gcC>gcA	p.A139A	SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	139					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GCCGCTGCTCGGCCAGGGAGA	0.617																																																	0													104.0	107.0	106.0					3																	15311298		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.417C>A	3.37:g.15311298G>T			B3KQW6|Q5JWV9	Silent	SNP	pfam_SH3-bd_5	p.A139	ENST00000383791.3	37	c.417	CCDS2625.2	3																																																																																			SH3BP5	-	pfam_SH3-bd_5	ENSG00000131370		0.617	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2	-	0.00	26	0	G	NM_004844		15311298	-1	tier1	-	no_errors	ENST00000383791	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.220	T
SH3RF2	153769	genome.wustl.edu	37	5	145428710	145428710	+	Silent	SNP	G	G	A	rs375118719		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:145428710G>A	ENST00000511217.1	+	6	1276	c.1224G>A	c.(1222-1224)agG>agA	p.R408R	SH3RF2_ENST00000359120.4_Silent_p.R408R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	408	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCGTCAGGGTCCTGGGGA	0.592											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G		0,4406		0,0,2203	65.0	62.0	63.0		1224	4.3	1.0	5		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SH3RF2	NM_152550.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		408/730	145428710	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1224G>A	5.37:g.145428710G>A		1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.R408	ENST00000511217.1	37	c.1224	CCDS4280.1	5																																																																																			SH3RF2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000156463		0.592	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	-	0.00	77	0	G	NM_152550		145428710	+1	tier1	-	no_errors	ENST00000359120	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	A
SHMT1	6470	genome.wustl.edu	37	17	18251744	18251744	+	Missense_Mutation	SNP	C	C	T	rs373431106		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:18251744C>T	ENST00000316694.3	-	4	387	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	SHMT1_ENST00000354098.3_Missense_Mutation_p.G85R|SHMT1_ENST00000539052.1_Intron|SHMT1_ENST00000352886.6_Missense_Mutation_p.G85R	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	85					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	AACTCAGTCCCGCCATAGTAT	0.547																																																	0								C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	60.0	59.0	59.0		253,253	5.7	0.8	17		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/484,85/445	18251744	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.253G>A	17.37:g.18251744C>T	ENSP00000318868:p.Gly85Arg		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.G85R	ENST00000316694.3	37	c.253	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261166	0.59431	0.0	1.16E-4	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000354098;ENST00000395685;ENST00000329968	T;T;T	0.70399	-0.48;-0.48;-0.48	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046779	0.85682	D	0.000000	D	0.92260	0.7545	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	1.0;0.983;0.994;0.992	D	0.95158	0.8279	10	0.72032	D	0.01	-21.0752	20.0965	0.97849	0.0:1.0:0.0:0.0	.	85;85;85;85	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	R	85;85;85;85;66	ENSP00000318868:G85R;ENSP00000345881:G85R;ENSP00000318805:G85R	ENSP00000318868:G85R	G	-	1	0	SHMT1	18192469	1.000000	0.71417	0.769000	0.31535	0.909000	0.53808	7.645000	0.83430	2.824000	0.97209	0.655000	0.94253	GGG	SHMT1	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000176974		0.547	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	-	0.00	61	0	C	NM_004169		18251744	-1	tier1	-	no_errors	ENST00000316694	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	T
SIDT1	54847	genome.wustl.edu	37	3	113327292	113327292	+	Silent	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:113327292T>C	ENST00000264852.4	+	17	2355	c.1629T>C	c.(1627-1629)ggT>ggC	p.G543G	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.G543G	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	543					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AACACTTTGGTCTCTTCTACG	0.438																																																	0													220.0	207.0	211.0					3																	113327292		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1629T>C	3.37:g.113327292T>C			Q17RR4	Silent	SNP	NULL	p.G543	ENST00000264852.4	37	c.1629	CCDS2974.1	3																																																																																			SIDT1	-	NULL	ENSG00000072858		0.438	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0.00	64	0	T	NM_017699		113327292	+1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	silent	17.00	83	17	SNP	1.000	C
SLC15A2	6565	genome.wustl.edu	37	3	121659777	121659777	+	Missense_Mutation	SNP	C	C	T	rs138745887		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:121659777C>T	ENST00000489711.1	+	22	2501	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R674W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	705					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGAGGATATGCGGGGTCCAGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19993	0.0		0.001	False		,,,				2504	0.0																0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	111.0	106.0	107.0		2020,2113	2.1	0.0	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC15A2	NM_001145998.1,NM_021082.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	674/699,705/730	121659777	1,13005	2203	4300	6503	SO:0001583	missense	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.2113C>T	3.37:g.121659777C>T	ENSP00000417085:p.Arg705Trp		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.R705W	ENST00000489711.1	37	c.2113	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979871	0.18812	0.0	1.16E-4	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02890	4.4;4.12	5.1	2.07	0.26955	.	0.904463	0.09595	N	0.780928	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B;B	0.31435	0.203;0.323	B;B	0.35550	0.205;0.021	T	0.47686	-0.9098	10	0.87932	D	0	1.7034	3.3337	0.07093	0.3623:0.4394:0.0:0.1983	.	674;705	B4E2A7;Q16348	.;S15A2_HUMAN	W	705;667;674	ENSP00000417085:R705W;ENSP00000295605:R674W	ENSP00000295605:R674W	R	+	1	2	SLC15A2	123142467	0.000000	0.05858	0.021000	0.16686	0.348000	0.29142	0.257000	0.18369	0.704000	0.31869	0.563000	0.77884	CGG	SLC15A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000163406		0.473	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	-	0.00	54	0	C	NM_021082		121659777	+1	tier1	rs138745887	no_errors	ENST00000489711	ensembl	human	known	74_37	missense	73.42	21	58	SNP	0.001	T
SLC17A4	10050	genome.wustl.edu	37	6	25762254	25762254	+	Missense_Mutation	SNP	G	G	A	rs576691816		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:25762254G>A	ENST00000377905.4	+	2	183	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.V22M	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	22					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAATTTAAACGTGGCTCAAGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17897	0.0		0.0	False		,,,				2504	0.001																0													82.0	74.0	77.0					6																	25762254		2203	4300	6503	SO:0001583	missense	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.64G>A	6.37:g.25762254G>A	ENSP00000367137:p.Val22Met		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V22M	ENST00000377905.4	37	c.64	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	G	2.158	-0.392988	0.04899	.	.	ENSG00000146039	ENST00000377905;ENST00000439485	T;T	0.74842	-0.2;-0.88	4.23	-8.46	0.00942	Major facilitator superfamily domain, general substrate transporter (1);	1.604120	0.03434	N	0.208294	T	0.18635	0.0447	N	0.08118	0	0.09310	N	0.999999	B;B	0.28512	0.002;0.214	B;B	0.16289	0.003;0.015	T	0.10245	-1.0638	10	0.15952	T	0.53	.	3.2576	0.06837	0.2171:0.2481:0.4132:0.1216	.	22;22	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	M	22	ENSP00000367137:V22M;ENSP00000391345:V22M	ENSP00000367137:V22M	V	+	1	0	SLC17A4	25870233	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.453000	0.02383	-1.899000	0.01098	-0.416000	0.06073	GTG	SLC17A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000146039		0.428	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0.00	90	0	G			25762254	+1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	64.10	14	25	SNP	0.000	A
SLC25A21	89874	genome.wustl.edu	37	14	37194798	37194798	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr14:37194798C>T	ENST00000331299.5	-	6	930	c.415G>A	c.(415-417)Gca>Aca	p.A139T	SLC25A21_ENST00000555449.1_Missense_Mutation_p.A139T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	139					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TTCCGATTTGCTTGCAAGCCA	0.308																																																	0													99.0	93.0	95.0					14																	37194798		2203	4300	6503	SO:0001583	missense	0			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.415G>A	14.37:g.37194798C>T	ENSP00000329452:p.Ala139Thr		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A139T	ENST00000331299.5	37	c.415	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103908	0.56291	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78595	-1.19;-1.19	5.32	5.32	0.75619	Mitochondrial carrier domain (2);	0.047319	0.85682	D	0.000000	T	0.73961	0.3654	L	0.33339	1.005	0.54753	D	0.999989	B	0.23540	0.087	B	0.37989	0.262	T	0.70655	-0.4812	10	0.39692	T	0.17	-3.6048	14.3097	0.66407	0.0:0.9263:0.0:0.0737	.	139	Q9BQT8	ODC_HUMAN	T	139	ENSP00000451873:A139T;ENSP00000329452:A139T	ENSP00000329452:A139T	A	-	1	0	SLC25A21	36264549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.540000	0.45727	2.494000	0.84150	0.644000	0.83932	GCA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000183032		0.308	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	-	0.00	94	0	C	NM_030631		37194798	-1	tier1	-	no_errors	ENST00000331299	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
SLC30A5	64924	genome.wustl.edu	37	5	68396658	68396658	+	Silent	SNP	A	A	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr5:68396658A>G	ENST00000396591.3	+	2	718	c.108A>G	c.(106-108)ctA>ctG	p.L36L	SLC30A5_ENST00000502979.1_Intron|SLC30A5_ENST00000380860.4_Silent_p.L36L	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	36					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGTGTTACTATGTTTCACTA	0.284																																																	0													55.0	57.0	57.0					5																	68396658		2203	4295	6498	SO:0001819	synonymous_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.108A>G	5.37:g.68396658A>G			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L36	ENST00000396591.3	37	c.108	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.284	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0.00	49	0	A			68396658	+1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.435	G
SLC6A1	6529	genome.wustl.edu	37	3	11078575	11078575	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr3:11078575G>A	ENST00000287766.4	+	16	2144	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SLC6A1_ENST00000536032.1_Missense_Mutation_p.E397K	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	575					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CCAGCCCAGCGAAGACATCGT	0.642																																																	0													92.0	88.0	89.0					3																	11078575		2203	4300	6503	SO:0001583	missense	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1723G>A	3.37:g.11078575G>A	ENSP00000287766:p.Glu575Lys		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport	p.E575K	ENST00000287766.4	37	c.1723	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093627	0.36952	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74421	-0.72;-0.84	4.39	4.39	0.52855	.	0.000000	0.38605	U	0.001637	T	0.53530	0.1802	N	0.08118	0	0.51012	D	0.999902	B	0.11235	0.004	B	0.06405	0.002	T	0.52124	-0.8617	10	0.08179	T	0.78	.	16.9702	0.86297	0.0:0.0:1.0:0.0	.	575	P30531	SC6A1_HUMAN	K	575;397	ENSP00000287766:E575K;ENSP00000445171:E397K	ENSP00000287766:E575K	E	+	1	0	SLC6A1	11053575	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	5.724000	0.68500	1.985000	0.57927	0.467000	0.42956	GAA	SLC6A1	-	NULL	ENSG00000157103		0.642	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	-	0.00	48	0	G	NM_003042		11078575	+1	tier1	-	no_errors	ENST00000287766	ensembl	human	known	74_37	missense	83.33	4	20	SNP	1.000	A
SMARCAL1	50485	genome.wustl.edu	37	2	217280990	217280990	+	Silent	SNP	C	C	G			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:217280990C>G	ENST00000357276.4	+	4	1152	c.822C>G	c.(820-822)acC>acG	p.T274T	SMARCAL1_ENST00000358207.5_Silent_p.T274T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	274	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCCTGACACCAAGACGTGGA	0.428									Schimke Immuno-Osseous Dysplasia																																								0													217.0	182.0	194.0					2																	217280990		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.822C>G	2.37:g.217280990C>G			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T274	ENST00000357276.4	37	c.822	CCDS2403.1	2																																																																																			SMARCAL1	-	pfam_HARP_dom	ENSG00000138375		0.428	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	-	0.00	85	0	C			217280990	+1	tier1	-	no_errors	ENST00000357276	ensembl	human	known	74_37	silent	31.75	43	20	SNP	0.784	G
SMC1B	27127	genome.wustl.edu	37	22	45798264	45798264	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:45798264T>C	ENST00000357450.4	-	5	802	c.803A>G	c.(802-804)aAg>aGg	p.K268R	SMC1B_ENST00000404354.3_Missense_Mutation_p.K268R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	268					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCATGTTCCTTTTTCCTGGC	0.333																																																	0													155.0	131.0	139.0					22																	45798264		1858	4093	5951	SO:0001583	missense	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.803A>G	22.37:g.45798264T>C	ENSP00000350036:p.Lys268Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.K268R	ENST00000357450.4	37	c.803	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232505	0.39498	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80738	-1.41;3.31	5.9	4.86	0.63082	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000005	T	0.78400	0.4277	L	0.61036	1.89	0.47245	D	0.999361	B;P;B	0.36110	0.329;0.537;0.314	B;B;B	0.41135	0.348;0.155;0.142	T	0.73975	-0.3813	10	0.33141	T	0.24	.	8.505	0.33181	0.1299:0.0:0.1363:0.7338	.	268;268;268	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	268	ENSP00000350036:K268R;ENSP00000385902:K268R	ENSP00000350036:K268R	K	-	2	0	SMC1B	44176928	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.574000	0.60900	1.042000	0.40150	-0.336000	0.08194	AAG	SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	-	0.00	68	0	T	NM_148674		45798264	-1	tier1	-	no_errors	ENST00000357450	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C
SNAP91	9892	genome.wustl.edu	37	6	84284746	84284746	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:84284746G>A	ENST00000439399.2	-	26	2741	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P779S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P809S|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000369694.2_Missense_Mutation_p.P809S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P502S|SNAP91_ENST00000428679.2_Missense_Mutation_p.P809S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P502S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P804S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P804S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	809	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)		GCACTTGGTGGAACGCCTGCT	0.502																																																	0													48.0	49.0	49.0					6																	84284746		2010	4174	6184	SO:0001583	missense	0			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.2425C>T	6.37:g.84284746G>A	ENSP00000400459:p.Pro809Ser		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P809S	ENST00000439399.2	37	c.2425	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274793	0.59649	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.21191	2.6;2.6;2.6;2.6;2.6;2.58;2.6;2.6;2.58;2.02	5.52	4.65	0.58169	.	0.331184	0.36002	N	0.002859	T	0.23649	0.0572	L	0.57536	1.79	0.09310	N	1	B;D;D;D;P	0.69078	0.004;0.997;0.957;0.957;0.611	B;D;P;P;B	0.67900	0.002;0.954;0.66;0.66;0.205	T	0.06935	-1.0799	10	0.45353	T	0.12	-5.8144	9.9118	0.41411	0.0736:0.2839:0.6425:0.0	.	685;502;779;809;807	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	S	804;809;809;804;809;502;779;809;502;150	ENSP00000429776:P804S;ENSP00000358708:P809S;ENSP00000400459:P809S;ENSP00000195649:P804S;ENSP00000412492:P809S;ENSP00000413277:P502S;ENSP00000428511:P779S;ENSP00000428215:P809S;ENSP00000428026:P502S;ENSP00000430255:P150S	ENSP00000195649:P804S	P	-	1	0	SNAP91	84341465	0.999000	0.42202	0.038000	0.18304	0.352000	0.29268	3.562000	0.53777	1.322000	0.45245	-0.274000	0.10170	CCA	SNAP91	-	NULL	ENSG00000065609		0.502	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0.00	34	0	G			84284746	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	62.50	6	10	SNP	0.083	A
SNHG14	104472715	genome.wustl.edu	37	15	25349906	25349906	+	RNA	SNP	C	C	T	rs374407494		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:25349906C>T	ENST00000546682.1	+	0	2376				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGGCAAACACGTGCAGAGAG	0.458																																																	0								C		0,1752		0,0,876	60.0	51.0	53.0			-1.9	0.0	15		53	1,3981		0,1,1990	no	intergenic				0,1,2866	TT,TC,CC		0.0251,0.0,0.0174			25349906	1,5733	876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25349906C>T				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.458	SNHG14-022	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	44	0	C			25349906	+1	tier1	-	no_errors	ENST00000546682	ensembl	human	known	74_37	rna	77.78	6	21	SNP	0.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25422019	25422019	+	RNA	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:25422019G>T	ENST00000441592.2	+	0	224				SNORD115-5_ENST00000363633.1_RNA|SNORD115-4_ENST00000363810.1_RNA|SNORD115-3_ENST00000363100.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GAAGAGAGGTGATGACTTAAA	0.542																																																	0													373.0	374.0	374.0					15																	25422019		876	1990	2866			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25422019G>T				RNA	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			SNORD115-4	-	-	ENSG00000200680		0.542	SNHG14-009	KNOWN	basic	antisense	SNORD115-4	HGNC	processed_transcript	OTTHUMT00000126736.3	-	0.00	82	0	G			25422019	+1	tier1	-	no_errors	ENST00000363810	ensembl	human	known	74_37	rna	63.95	31	55	SNP	0.751	T
SNX1	6642	genome.wustl.edu	37	15	64410418	64410418	+	Missense_Mutation	SNP	C	C	T	rs138423671		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:64410418C>T	ENST00000559844.1	+	3	388	c.374C>T	c.(373-375)tCg>tTg	p.S125L	SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.S125L|SNX1_ENST00000261889.5_Missense_Mutation_p.S125L|SNX1_ENST00000561026.1_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	125					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACAAATTCTTCGAAGCCCCAG	0.473																																																	0								C	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	116.0	105.0	109.0		374,	5.4	1.0	15	dbSNP_134	109	0,8600		0,0,4300	no	missense,intron	SNX1	NM_003099.4,NM_148955.3	145,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,	125/523,	64410418	1,13005	2203	4300	6503	SO:0001583	missense	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.374C>T	15.37:g.64410418C>T	ENSP00000453785:p.Ser125Leu		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S125L	ENST00000559844.1	37	c.374	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852229	0.32699	2.27E-4	0.0	ENSG00000028528	ENST00000380285;ENST00000353874	T	0.58060	0.36	5.44	5.44	0.79542	.	1.046440	0.07389	N	0.888796	T	0.49474	0.1559	L	0.38175	1.15	0.35217	D	0.775645	B;B;B;B;B	0.27679	0.015;0.185;0.002;0.013;0.002	B;B;B;B;B	0.24394	0.025;0.005;0.005;0.053;0.003	T	0.44651	-0.9314	10	0.46703	T	0.11	-15.3179	16.7957	0.85601	0.0:1.0:0.0:0.0	.	125;35;125;125;125	Q6ZRJ8;Q59GU6;Q53GY8;A6NKH4;Q13596	.;.;.;.;SNX1_HUMAN	L	125	ENSP00000326668:S125L	ENSP00000326668:S125L	S	+	2	0	SNX1	62197471	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	4.829000	0.62737	2.719000	0.93026	0.655000	0.94253	TCG	SNX1	-	pfam_Sorting_nexin_N	ENSG00000028528		0.473	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	-	0.00	80	0	C	NM_003099		64410418	+1	tier1	rs138423671	no_errors	ENST00000559844	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.998	T
SOBP	55084	genome.wustl.edu	37	6	107955219	107955219	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:107955219G>T	ENST00000317357.5	+	6	1830	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GACCAACCGCGGCCCGGTGCC	0.662																																																	0													62.0	70.0	67.0					6																	107955219		2010	4169	6179	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1171G>T	6.37:g.107955219G>T	ENSP00000318900:p.Gly391Cys			Missense_Mutation	SNP	NULL	p.G391C	ENST00000317357.5	37	c.1171	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965778	0.74131	.	.	ENSG00000112320	ENST00000317357	T	0.38077	1.16	5.46	5.46	0.80206	.	0.128326	0.51477	D	0.000082	T	0.47710	0.1460	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47799	-0.9089	10	0.66056	D	0.02	-11.2294	19.3015	0.94145	0.0:0.0:1.0:0.0	.	391	A7XYQ1	SOBP_HUMAN	C	391	ENSP00000318900:G391C	ENSP00000318900:G391C	G	+	1	0	SOBP	108061912	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.014000	0.93635	2.552000	0.86080	0.561000	0.74099	GGC	SOBP	-	NULL	ENSG00000112320		0.662	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0.00	36	0	G	NM_018013		107955219	+1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
SRMS	6725	genome.wustl.edu	37	20	62172297	62172297	+	Silent	SNP	G	G	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr20:62172297G>C	ENST00000217188.1	-	8	1381	c.1341C>G	c.(1339-1341)cgC>cgG	p.R447R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGCAGCCGGGCGCGGCAGCC	0.697																																																	0													49.0	56.0	54.0					20																	62172297		2196	4287	6483	SO:0001819	synonymous_variant	0				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1341C>G	20.37:g.62172297G>C				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R447	ENST00000217188.1	37	c.1341	CCDS13525.1	20																																																																																			SRMS	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125508		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	-	0.00	10	0	G	NM_080823		62172297	-1	tier1	-	no_errors	ENST00000217188	ensembl	human	known	74_37	silent	50.00	15	15	SNP	0.896	C
ST5	6764	genome.wustl.edu	37	11	8752018	8752018	+	Silent	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:8752018G>A	ENST00000534127.1	-	6	1204	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ST5_ENST00000357665.1_Silent_p.G273G|ST5_ENST00000313726.6_Silent_p.G273G|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	273					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTTCCTGCTGCCATGCCCCC	0.662																																																	0													45.0	56.0	52.0					11																	8752018		2194	4279	6473	SO:0001819	synonymous_variant	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.819C>T	11.37:g.8752018G>A			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G273	ENST00000534127.1	37	c.819	CCDS7791.1	11																																																																																			ST5	-	NULL	ENSG00000166444		0.662	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	-	0.00	31	0	G	NM_005418		8752018	-1	tier1	-	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	81.25	6	26	SNP	1.000	A
TRIM74	378108	genome.wustl.edu	37	7	72440358	72440358	+	5'Flank	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:72440358C>T	ENST00000285805.3	-	0	0				TRIM74_ENST00000395244.1_5'Flank	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			prostate(1)	1						GGGGGAAGCGCGTTAAACCAG	0.706																																																	0																																										SO:0001631	upstream_gene_variant	0			AF498999	CCDS5545.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000155428	ENSG00000155428		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	17453	protein-coding gene	gene with protein product		612550	"""tripartite motif-containing 50C"", ""tripartite motif-containing 74"""	TRIM50C			Standard	NM_198853		Approved	MGC45440		Q86UV6	OTTHUMG00000129851		7.37:g.72440358C>T	Exception_encountered		B7WP46	RNA	SNP	-	NULL	ENST00000285805.3	37	NULL	CCDS5545.1	7																																																																																			STAG3L3	-	-	ENSG00000174353		0.706	TRIM74-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAG3L3	HGNC	protein_coding	OTTHUMT00000252093.1	-	0.00	46	0	C	NM_198853		72440358	-1	tier1	-	no_errors	ENST00000436857	ensembl	human	known	74_37	rna	21.88	25	7	SNP	0.001	T
STOML1	9399	genome.wustl.edu	37	15	74277035	74277035	+	Missense_Mutation	SNP	C	C	T	rs2277600		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:74277035C>T	ENST00000316900.5	-	6	1092	c.968G>A	c.(967-969)gGc>gAc	p.G323D	STOML1_ENST00000316911.6_Missense_Mutation_p.G273D|STOML1_ENST00000561656.1_Missense_Mutation_p.G235D|STOML1_ENST00000564777.1_Missense_Mutation_p.G272D|STOML1_ENST00000541638.1_Missense_Mutation_p.G280D|STOML1_ENST00000359750.4_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	323	SCP2.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCTTTGGGTGCCGCTGGGCAG	0.612																																																	0													57.0	47.0	51.0					15																	74277035		2198	4297	6495	SO:0001583	missense	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.968G>A	15.37:g.74277035C>T	ENSP00000319323:p.Gly323Asp		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.G323D	ENST00000316900.5	37	c.968	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418150	0.42918	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638	T;T;T	0.23552	1.9;1.9;1.9	4.48	3.56	0.40772	SCP2 sterol-binding domain (2);	0.107489	0.64402	N	0.000006	T	0.24736	0.0600	L	0.52011	1.625	0.54753	D	0.99998	B;B;B;B	0.29162	0.235;0.082;0.235;0.235	B;B;B;B	0.32465	0.146;0.058;0.146;0.146	T	0.06285	-1.0835	10	0.54805	T	0.06	-19.472	9.5677	0.39409	0.0:0.9019:0.0:0.0981	.	280;273;322;323	B4DUU5;Q9UBI4-2;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	D	323;273;280	ENSP00000319323:G323D;ENSP00000319384:G273D;ENSP00000442478:G280D	ENSP00000319323:G323D	G	-	2	0	STOML1	72064088	0.974000	0.33945	0.981000	0.43875	0.807000	0.45602	4.130000	0.57964	1.105000	0.41606	0.561000	0.74099	GGC	STOML1	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000067221		0.612	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1	-	0.00	67	0	C	NM_004809		74277035	-1	tier1	-	no_errors	ENST00000316900	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.998	T
SUPT6H	6830	genome.wustl.edu	37	17	27026896	27026896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:27026896C>T	ENST00000314616.6	+	33	4829	c.4546C>T	c.(4546-4548)Cag>Tag	p.Q1516*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1516*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1516					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1516K(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGATCACTACCAGGATCCTGT	0.527																																																	1	Substitution - Missense(1)	lung(1)											151.0	141.0	144.0					17																	27026896		2203	4300	6503	SO:0001587	stop_gained	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4546C>T	17.37:g.27026896C>T	ENSP00000319104:p.Gln1516*		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.Q1516*	ENST00000314616.6	37	c.4546	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.784829	0.99696	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.14	5.14	0.70334	.	0.055925	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-16.6471	18.6095	0.91279	0.0:1.0:0.0:0.0	.	.	.	.	X	1516	.	ENSP00000319104:Q1516X	Q	+	1	0	SUPT6H	24051023	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.471000	0.80985	2.414000	0.81942	0.462000	0.41574	CAG	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0.00	90	0	C	NM_003170		27026896	+1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	T
TCF19	6941	genome.wustl.edu	37	6	31129244	31129244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr6:31129244C>T	ENST00000376257.3	+	3	1013	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TCF19_ENST00000376255.4_Nonsense_Mutation_p.R87*	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	87	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAATAATGTCCGACTCCCAAG	0.512																																																	0													103.0	109.0	107.0					6																	31129244		1201	2528	3729	SO:0001587	stop_gained	0			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.259C>T	6.37:g.31129244C>T	ENSP00000365433:p.Arg87*		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Nonsense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.R87*	ENST00000376257.3	37	c.259	CCDS43446.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.917819	0.97105	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	.	.	.	5.42	4.46	0.54185	.	0.059871	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.3949	14.4394	0.67306	0.1576:0.8424:0.0:0.0	.	.	.	.	X	87;87;7	.	ENSP00000365431:R87X	R	+	1	2	TCF19	31237223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.707000	0.47143	2.535000	0.85469	0.549000	0.68633	CGA	TCF19	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000137310		0.512	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2		0.00	48	0	C	NM_007109		31129244	+1			no_errors	ENST00000376255	ensembl	human	known	74_37	nonsense	7.69	36	3	SNP	1.000	T
TERF2	7014	genome.wustl.edu	37	16	69400729	69400729	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:69400729G>A	ENST00000254942.3	-	7	1337	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	TERF2_ENST00000603068.1_Missense_Mutation_p.P399S|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	441					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TTCTCTCCAGGGAGGGGTTGG	0.557																																					Ovarian(13;63 524 30420 31710 34037)												0													59.0	58.0	59.0					16																	69400729		2198	4300	6498	SO:0001583	missense	0				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1321C>T	16.37:g.69400729G>A	ENSP00000254942:p.Pro441Ser			Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.P441S	ENST00000254942.3	37	c.1321		16	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.589408	0.00864	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	1.46	0.22682	.	0.633204	0.16892	N	0.195288	T	0.15912	0.0383	N	0.24115	0.695	0.18873	N	0.999989	B	0.18461	0.028	B	0.15870	0.014	T	0.28073	-1.0055	9	0.05525	T	0.97	-2.1489	3.1017	0.06328	0.326:0.0:0.486:0.1881	.	399	Q15554	TERF2_HUMAN	S	399	.	ENSP00000254942:P399S	P	-	1	0	TERF2	67958230	0.000000	0.05858	0.006000	0.13384	0.096000	0.18686	-0.055000	0.11807	0.431000	0.26258	0.655000	0.94253	CCT	TERF2	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000132604		0.557	TERF2-001	KNOWN	basic	protein_coding	TERF2	HGNC	protein_coding	OTTHUMT00000268944.2	-	0.00	50	0	G			69400729	-1	tier1	-	no_errors	ENST00000254942	ensembl	human	known	74_37	missense	55.38	29	36	SNP	0.010	A
TGM7	116179	genome.wustl.edu	37	15	43574111	43574111	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:43574111C>T	ENST00000452443.2	-	9	1286	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	428					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTGCTGATCTCCTTCCCGATG	0.572																																																	0													108.0	75.0	86.0					15																	43574111		2202	4299	6501	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1282G>A	15.37:g.43574111C>T	ENSP00000389466:p.Glu428Lys			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E428K	ENST00000452443.2	37	c.1282	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316767	0.23908	.	.	ENSG00000159495	ENST00000452443	T	0.72725	-0.68	5.36	2.06	0.26882	.	0.882533	0.10083	N	0.718174	T	0.42810	0.1219	N	0.04162	-0.26	0.20074	N	0.999936	B	0.06786	0.001	B	0.06405	0.002	T	0.24657	-1.0154	10	0.29301	T	0.29	-3.4965	2.8681	0.05608	0.1977:0.448:0.0:0.3544	.	428	Q96PF1	TGM7_HUMAN	K	428	ENSP00000389466:E428K	ENSP00000389466:E428K	E	-	1	0	TGM7	41361403	0.000000	0.05858	0.961000	0.40146	0.437000	0.31866	0.450000	0.21762	0.655000	0.30866	-0.150000	0.13652	GAG	TGM7	-	NULL	ENSG00000159495		0.572	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	-	0.00	60	0	C	NM_052955		43574111	-1	tier1	-	no_errors	ENST00000452443	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.514	T
TM2D1	83941	genome.wustl.edu	37	1	62165861	62165863	+	Intron	DEL	GAT	GAT	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:62165861_62165863delGAT	ENST00000606498.1	-	4	460				TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000472989.1_Intron|TM2D1_ENST00000371180.2_Intron|TM2D1_ENST00000371177.2_In_Frame_Del_p.I175del			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						ataaaacaaagatgataacaaca	0.379																																																	0																																										SO:0001627	intron_variant	0			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.439+742ATC>-	1.37:g.62165864_62165866delGAT			A6NDA8	In_Frame_Del	DEL	pfam_TM2	p.I175in_frame_del	ENST00000606498.1	37	c.525_523		1																																																																																			TM2D1	-	NULL	ENSG00000162604		0.379	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	HGNC	protein_coding	OTTHUMT00000470779.2		0.00	47	0	GAT	NM_032027		62165863	-1	tier1		no_errors	ENST00000371177	ensembl	human	putative	74_37	in_frame_del	48.48	17	16	DEL	0.040:0.164:0.671	-
TNFRSF25	8718	genome.wustl.edu	37	1	6521717	6521717	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:6521717G>A	ENST00000356876.3	-	10	1118	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	TNFRSF25_ENST00000351748.3_Missense_Mutation_p.A161V|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.A307V|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.A299V|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.A353V|TNFRSF25_ENST00000461703.2_5'Flank	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	344	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCGCCGCGCTGGGACCGC	0.697																																																	0													14.0	14.0	14.0					1																	6521717		2200	4298	6498	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1031C>T	1.37:g.6521717G>A	ENSP00000349341:p.Ala344Val		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.A353V	ENST00000356876.3	37	c.1058	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946439	0.53186	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.14	2.28	0.28536	Death (3);DEATH-like (2);	0.000000	0.36893	U	0.002351	T	0.62282	0.2415	N	0.01048	-1.04	0.29137	N	0.879238	D;P;P;D;P;D	0.61697	0.982;0.939;0.952;0.961;0.952;0.99	P;B;B;P;B;P	0.50791	0.542;0.315;0.274;0.525;0.39;0.65	T	0.66642	-0.5872	10	0.02654	T	1	-12.4417	7.2959	0.26393	0.4355:0.0:0.5645:0.0	.	353;299;307;344;345;161	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	V	344;353;307;161;299	ENSP00000349341:A344V;ENSP00000367013:A353V;ENSP00000337713:A307V;ENSP00000326762:A161V;ENSP00000314451:A299V	ENSP00000314451:A299V	A	-	2	0	TNFRSF25	6444304	0.630000	0.27155	0.666000	0.29783	0.449000	0.32228	1.975000	0.40569	0.201000	0.20466	0.650000	0.86243	GCG	TNFRSF25	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000215788		0.697	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	-	0.00	21	0	G	NM_148965		6521717	-1	tier1	-	no_errors	ENST00000377782	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.741	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	37	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	89.13	5	41	SNP	1.000	A
TPST1	8460	genome.wustl.edu	37	7	65885473	65885473	+	RNA	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:65885473delT	ENST00000442578.1	-	0	826																											ATCAAATCAATTTTTGGAACA	0.313																																																	0																																												0																															7.37:g.65885473delT				RNA	DEL	-	NULL	ENST00000442578.1	37	NULL		7																																																																																			TPST1	-	-	ENSG00000169902		0.313	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPST1	HGNC	pseudogene	OTTHUMT00000344730.1		0.00	9	0	T			65885473	+1	tier1		no_errors	ENST00000490159	ensembl	human	known	74_37	rna	18.18	9	2	DEL	0.001	-
TRIM50	135892	genome.wustl.edu	37	7	72727162	72727162	+	Missense_Mutation	SNP	C	C	T	rs372424421		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr7:72727162C>T	ENST00000333149.2	-	7	1419	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	TRIM50_ENST00000453152.1_Missense_Mutation_p.V407M	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	407	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TGGCCGGCCACGGGCAGGGGT	0.687																																																	0								C	MET/VAL	1,4379		0,1,2189	16.0	15.0	15.0		1219	3.7	0.1	7		15	0,8560		0,0,4280	no	missense	TRIM50	NM_178125.2	21	0,1,6469	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	407/488	72727162	1,12939	2190	4280	6470	SO:0001583	missense	0			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.1219G>A	7.37:g.72727162C>T	ENSP00000327994:p.Val407Met		Q86XT3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V407M	ENST00000333149.2	37	c.1219	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624851	0.28889	2.28E-4	0.0	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.69806	-0.43;-0.43	4.62	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.265332	0.24940	N	0.034396	T	0.64283	0.2584	L	0.28192	0.835	0.09310	N	1	D;D	0.67145	0.995;0.996	P;P	0.60345	0.8;0.873	T	0.53422	-0.8441	10	0.35671	T	0.21	.	8.5391	0.33382	0.0:0.7576:0.155:0.0875	.	406;407	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	M	407	ENSP00000327994:V407M;ENSP00000413875:V407M	ENSP00000327994:V407M	V	-	1	0	TRIM50	72365098	0.962000	0.33011	0.101000	0.21167	0.042000	0.13812	1.476000	0.35420	1.313000	0.45069	0.561000	0.74099	GTG	TRIM50	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146755		0.687	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	-	0.00	9	0	C	NM_178125		72727162	-1	tier1	-	no_errors	ENST00000333149	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.035	T
TRPC6	7225	genome.wustl.edu	37	11	101454162	101454162	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:101454162G>A	ENST00000344327.3	-	1	497	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	TRPC6_ENST00000360497.4_Missense_Mutation_p.R25C|RP11-748H22.1_ENST00000527374.1_RNA|TRPC6_ENST00000532133.1_Missense_Mutation_p.R25C|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.R25C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	25					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCTCGTTGCGCCGCGCAGCG	0.716																																					Colon(166;1315 1927 11094 12848 34731)												0													12.0	12.0	12.0					11																	101454162		2168	4235	6403	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.73C>T	11.37:g.101454162G>A	ENSP00000340913:p.Arg25Cys		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R25C	ENST00000344327.3	37	c.73	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468144	0.63625	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;D;D;D	0.83163	-1.43;-1.57;-1.5;-1.69	5.02	4.07	0.47477	.	0.605876	0.14233	N	0.332602	D	0.84110	0.5400	N	0.22421	0.69	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.973	D	0.83981	0.0332	10	0.87932	D	0	-9.3366	10.8962	0.47023	0.0:0.0:0.8139:0.1861	.	25;25;25	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	C	25	ENSP00000340913:R25C;ENSP00000435574:R25C;ENSP00000343672:R25C;ENSP00000353687:R25C	ENSP00000340913:R25C	R	-	1	0	TRPC6	100959372	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.476000	0.35420	2.319000	0.78375	0.561000	0.74099	CGC	TRPC6	-	NULL	ENSG00000137672		0.716	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	-	0.00	29	0	G	NM_004621		101454162	-1	tier1	-	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	A
TSHZ3	57616	genome.wustl.edu	37	19	31768451	31768451	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:31768451G>T	ENST00000240587.4	-	2	2575	c.2248C>A	c.(2248-2250)Ctt>Att	p.L750I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	750					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATCTTGAAAAGCATGCTCATG	0.602																																																	0													61.0	62.0	62.0					19																	31768451		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2248C>A	19.37:g.31768451G>T	ENSP00000240587:p.Leu750Ile		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L750I	ENST00000240587.4	37	c.2248	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784094	0.70222	.	.	ENSG00000121297	ENST00000240587	T	0.59906	0.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.71036	2.16	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.76913	-0.2783	10	0.54805	T	0.06	-13.4671	19.1085	0.93307	0.0:0.0:1.0:0.0	.	750	Q63HK5	TSH3_HUMAN	I	750	ENSP00000240587:L750I	ENSP00000240587:L750I	L	-	1	0	TSHZ3	36460291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.316000	0.72857	2.501000	0.84356	0.655000	0.94253	CTT	TSHZ3	-	NULL	ENSG00000121297		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0.00	32	0	G	NM_020856		31768451	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	20.83	18	5	SNP	1.000	T
TTC24	164118	genome.wustl.edu	37	1	156552116	156552116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr1:156552116G>A	ENST00000368237.3	+	2	800	c.800G>A	c.(799-801)tGg>tAg	p.W267*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.W267*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	267										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTGTGCTGGGTGCCAGGA	0.622																																																	0													27.0	27.0	27.0					1																	156552116		1911	4125	6036	SO:0001587	stop_gained	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.800G>A	1.37:g.156552116G>A	ENSP00000357220:p.Trp267*		Q5T3H7	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W267*	ENST00000368237.3	37	c.800	CCDS53379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.641316|2.641316	0.47153|0.47153	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.31|4.31	-1.84|-1.84	0.07809|0.07809	.|.	.|0.899981	.|0.09314	.|N	.|0.819139	T|.	0.11836|.	0.0288|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29731|.	-1.0002|.	3|.	.|.	.|.	.|.	-2.1308|-2.1308	4.6689|4.6689	0.12680|0.12680	0.4757:0.0:0.3785:0.1457|0.4757:0.0:0.3785:0.1457	.|.	.|.	.|.	.|.	R|X	40;32|267	.|.	.|.	G|W	+|+	1|2	0|0	TTC24|TTC24	154818740|154818740	0.000000|0.000000	0.05858|0.05858	0.350000|0.350000	0.25708|0.25708	0.481000|0.481000	0.33189|0.33189	-1.119000|-1.119000	0.03276|0.03276	-0.181000|-0.181000	0.10619|0.10619	0.407000|0.407000	0.27541|0.27541	GGG|TGG	TTC24	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000187862		0.622	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0.00	39	0	G	XM_089384		156552116	+1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	nonsense	55.56	20	25	SNP	0.125	A
TTN	7273	genome.wustl.edu	37	2	179604912	179604912	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:179604912C>A	ENST00000591111.1	-	46	12321	c.12097G>T	c.(12097-12099)Gtg>Ttg	p.V4033L	TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4350L|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)	p.V4112L(1)|p.V3987L(1)		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)			GGGGGCATCACCACGTTGTCA	0.458																																																	2	Substitution - Missense(2)	prostate(2)											94.0	92.0	93.0					2																	179604912		1890	4120	6010	SO:0001583	missense	0			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.12097G>T	2.37:g.179604912C>A	ENSP00000465570:p.Val4033Leu		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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_dom,pfscan_Ig-like_dom	p.V4179L	ENST00000591111.1	37	c.12535		2	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073141	0.07228	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59364	0.31;0.28;0.27	5.79	-1.04	0.10068	.	.	.	.	.	T	0.29850	0.0746	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.21109	-1.0255	9	0.87932	D	0	.	1.2778	0.02034	0.2664:0.3508:0.0954:0.2874	.	3987;4112;4179	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3987;4179;4112;3987	ENSP00000434586:V3987L;ENSP00000340554:V4179L;ENSP00000352154:V4112L	ENSP00000340554:V4179L	V	-	1	0	TTN	179313157	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.766000	0.04725	0.069000	0.16605	0.563000	0.77884	GTG	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	32	0	C	NM_133378		179604912	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	A
TUBGCP6	85378	genome.wustl.edu	37	22	50662532	50662532	+	Intron	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr22:50662532G>A	ENST00000248846.5	-	13	2375				TUBGCP6_ENST00000439308.2_Intron|TUBGCP6_ENST00000491449.1_Intron			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCCCTGCCGCACTGCACCC	0.522																																																	0													22.0	27.0	25.0					22																	50662532		2202	4299	6501	SO:0001627	intron_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2270+37C>T	22.37:g.50662532G>A			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	RNA	SNP	-	NULL	ENST00000248846.5	37	NULL	CCDS14087.1	22																																																																																			TUBGCP6	-	-	ENSG00000128159		0.522	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	-	0.00	18	0	G	NM_020461		50662532	-1	tier1	-	no_errors	ENST00000473946	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.000	A
TXNRD1	7296	genome.wustl.edu	37	12	104709577	104709577	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr12:104709577T>A	ENST00000529546.1	+	4	294	c.69T>A	c.(67-69)aaT>aaA	p.N23K	TXNRD1_ENST00000427956.1_Missense_Mutation_p.N176K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.N130K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.N61K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.N160K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.N111K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.N23K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.N61K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.N61K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.N211K|TXNRD1_ENST00000526691.1_Missense_Mutation_p.N113K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.N105K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.N105K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.N113K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.N211K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	211					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CATGTGTGAATGTGGGTTGCA	0.403																																					Ovarian(139;555 1836 9186 9946 10884)												0													114.0	109.0	111.0					12																	104709577		1897	4131	6028	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.69T>A	12.37:g.104709577T>A	ENSP00000434919:p.Asn23Lys		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.N211K	ENST00000529546.1	37	c.633	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318519	0.81469	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526266;ENST00000503506;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000531689;ENST00000529546;ENST00000540716;ENST00000526580;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.81	2.01	0.26516	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	H	0.99800	4.79	0.54753	D	0.999988	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82866	-0.0245	10	0.87932	D	0	-32.3749	10.0188	0.42031	0.0:0.1895:0.0:0.8105	.	111;105;211;113;61;211;176	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	K	211;211;61;61;113;105;113;61;105;61;23;23;61;61;111;160;61;105;176;130	ENSP00000434516:N211K;ENSP00000412045:N211K;ENSP00000431294:N61K;ENSP00000421934:N61K;ENSP00000435929:N113K;ENSP00000431925:N105K;ENSP00000373506:N113K;ENSP00000347020:N61K;ENSP00000435123:N105K;ENSP00000433507:N61K;ENSP00000434919:N23K;ENSP00000442709:N23K;ENSP00000433887:N61K;ENSP00000433425:N61K;ENSP00000440978:N111K;ENSP00000367310:N160K;ENSP00000433599:N61K;ENSP00000380844:N105K;ENSP00000393328:N176K;ENSP00000432812:N130K	ENSP00000347020:N61K	N	+	3	2	TXNRD1	103233707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.766000	0.26560	0.096000	0.17463	0.529000	0.55759	AAT	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.403	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	-	0.00	69	0	T	NM_003330		104709577	+1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A
TYRO3	7301	genome.wustl.edu	37	15	41865875	41865875	+	Splice_Site	SNP	A	A	T	rs77680822		TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:41865875A>T	ENST00000263798.3	+	18	2369		c.e18-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATTCTGTCCCAGTGGGCGTTC	0.582																																																	0													81.0	75.0	77.0					15																	41865875		2203	4300	6503	SO:0001630	splice_region_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2146-1A>T	15.37:g.41865875A>T			O14953|Q86VR3	Splice_Site	SNP	-	e18-2	ENST00000263798.3	37	c.2146-2	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863171	0.71949	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4348	0.75137	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39653167	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	9.339000	0.96797	2.048000	0.60808	0.533000	0.62120	.	TYRO3	-	-	ENSG00000092445		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2		0.00	61	0	A		Intron	41865875	+1			no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	T
ULK2	9706	genome.wustl.edu	37	17	19689396	19689396	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr17:19689396G>T	ENST00000395544.4	-	21	2604	c.2105C>A	c.(2104-2106)cCg>cAg	p.P702Q	ULK2_ENST00000361658.2_Missense_Mutation_p.P702Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	702					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P702L(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGCTCCTGCCGGAGCTACAAC	0.498																																																	1	Substitution - Missense(1)	endometrium(1)											39.0	39.0	39.0					17																	19689396		2203	4300	6503	SO:0001583	missense	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2105C>A	17.37:g.19689396G>T	ENSP00000378914:p.Pro702Gln		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P702Q	ENST00000395544.4	37	c.2105	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583919	0.86748	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	.	0.052548	0.85682	D	0.000000	T	0.61022	0.2314	L	0.49126	1.545	0.54753	D	0.999989	D	0.89917	1.0	D	0.81914	0.995	T	0.62492	-0.6843	10	0.87932	D	0	-17.5108	18.4087	0.90543	0.0:0.0:1.0:0.0	.	702	Q8IYT8	ULK2_HUMAN	Q	702	ENSP00000354877:P702Q;ENSP00000378914:P702Q	ENSP00000354877:P702Q	P	-	2	0	ULK2	19629988	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	8.371000	0.90123	2.602000	0.87976	0.536000	0.68110	CCG	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.498	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2		0.00	45	0	G	NM_014683		19689396	-1			no_errors	ENST00000361658	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
USP47	55031	genome.wustl.edu	37	11	11977845	11977845	+	3'UTR	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr11:11977845G>A	ENST00000399455.2	+	0	4371				USP47_ENST00000539466.1_3'UTR|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000339865.5_3'UTR|USP47_ENST00000527733.1_3'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						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)			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)		GCACTGATTGGACTGCCCTAC	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			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.*123G>A	11.37:g.11977845G>A			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	RNA	SNP	-	NULL	ENST00000399455.2	37	NULL		11																																																																																			USP47	-	-	ENSG00000170242		0.478	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0.00	22	0	G	NM_017944		11977845	+1	tier1	-	no_errors	ENST00000305481	ensembl	human	known	74_37	rna	87.50	1	7	SNP	1.000	A
VIM	7431	genome.wustl.edu	37	10	17275912	17275912	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr10:17275912A>C	ENST00000224237.5	+	4	1009	c.864A>C	c.(862-864)gaA>gaC	p.E288D	VIM_ENST00000544301.1_Missense_Mutation_p.E288D|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	288	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAGGCAGAAGAATGGTACA	0.468																																																	0													45.0	41.0	42.0					10																	17275912		2203	4300	6503	SO:0001583	missense	0			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.864A>C	10.37:g.17275912A>C	ENSP00000224237:p.Glu288Asp		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E288D	ENST00000224237.5	37	c.864	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293115	0.60086	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.93426	-3.22;-3.22;-3.22	6.14	-2.08	0.07254	Filament (1);	0.000000	0.47455	D	0.000238	D	0.94608	0.8262	M	0.85945	2.785	0.80722	D	1	P;B;B;B;P	0.46784	0.884;0.158;0.329;0.329;0.606	P;B;B;B;P	0.50825	0.651;0.278;0.327;0.232;0.533	D	0.93934	0.7217	10	0.72032	D	0.01	.	14.8396	0.70214	0.4767:0.0:0.5233:0.0	.	288;275;275;288;288	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	D	288;288;275;114	ENSP00000446007:E288D;ENSP00000224237:E288D;ENSP00000391842:E114D	ENSP00000224237:E288D	E	+	3	2	VIM	17315918	0.997000	0.39634	0.986000	0.45419	0.997000	0.91878	0.494000	0.22467	-0.292000	0.08999	0.519000	0.50382	GAA	VIM	-	pfam_IF,superfamily_Prefoldin	ENSG00000026025		0.468	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	-	0.00	64	0	A	NM_003380		17275912	+1	tier1	-	no_errors	ENST00000224237	ensembl	human	known	74_37	missense	59.26	11	16	SNP	0.970	C
WFS1	7466	genome.wustl.edu	37	4	6302454	6302454	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr4:6302454G>A	ENST00000226760.1	+	8	1102	c.932G>A	c.(931-933)gGc>gAc	p.G311D	WFS1_ENST00000503569.1_Missense_Mutation_p.G311D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	311					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCCAGGGCAGGCATGCACTGG	0.562																																																	0													297.0	216.0	244.0					4																	6302454		2203	4300	6503	SO:0001583	missense	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.932G>A	4.37:g.6302454G>A	ENSP00000226760:p.Gly311Asp		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.G311D	ENST00000226760.1	37	c.932	CCDS3386.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.82|18.82	3.704371|3.704371	0.68615|0.68615	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.88046	.|-2.33;-2.33	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92169|0.92169	0.7517|0.7517	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.93137|0.93137	0.6538|0.6538	5|10	.|0.72032	.|D	.|0.01	-49.6394|-49.6394	16.4141|16.4141	0.83728|0.83728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|311	.|O76024	.|WFS1_HUMAN	T|D	189|311	.|ENSP00000423337:G311D;ENSP00000226760:G311D	.|ENSP00000226760:G311D	A|G	+|+	1|2	0|0	WFS1|WFS1	6353355|6353355	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.938000|0.938000	0.57974|0.57974	8.929000|8.929000	0.92859|0.92859	2.122000|2.122000	0.65172|0.65172	0.556000|0.556000	0.70494|0.70494	GCA|GGC	WFS1	-	NULL	ENSG00000109501		0.562	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1		0.00	25	0	G			6302454	+1			no_errors	ENST00000226760	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A
ZCCHC5	203430	genome.wustl.edu	37	X	77912927	77912927	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chrX:77912927G>T	ENST00000321110.1	-	2	1286	c.991C>A	c.(991-993)Caa>Aaa	p.Q331K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	331							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGGCAGAGTTGATGGATGCAC	0.468																																																	0													72.0	59.0	64.0					X																	77912927		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.991C>A	X.37:g.77912927G>T	ENSP00000316794:p.Gln331Lys		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q331K	ENST00000321110.1	37	c.991	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.466768	0.01053	.	.	ENSG00000179300	ENST00000321110	T	0.17691	2.26	3.2	1.3	0.21679	.	0.755546	0.10283	N	0.693326	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.42015	-0.9476	10	0.14656	T	0.56	.	7.1407	0.25554	0.0:0.0:0.4875:0.5125	.	331	Q8N8U3	ZCHC5_HUMAN	K	331	ENSP00000316794:Q331K	ENSP00000316794:Q331K	Q	-	1	0	ZCCHC5	77799583	0.311000	0.24536	0.002000	0.10522	0.010000	0.07245	1.708000	0.37899	0.191000	0.20236	0.506000	0.49869	CAA	ZCCHC5	-	NULL	ENSG00000179300		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0.00	39	0	G	NM_152694		77912927	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	77.14	8	27	SNP	0.002	T
ZFR2	23217	genome.wustl.edu	37	19	3810816	3810816	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:3810816C>T	ENST00000262961.4	-	16	2375	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	789	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ATGACGATCACGCATGGCTGC	0.701																																																	0													5.0	7.0	6.0					19																	3810816		1803	3673	5476	SO:0001583	missense	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2365G>A	19.37:g.3810816C>T	ENSP00000262961:p.Val789Met			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.V789M	ENST00000262961.4	37	c.2365	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630841	0.46944	.	.	ENSG00000105278	ENST00000262961	T	0.46063	0.88	3.56	3.56	0.40772	DZF (2);	0.000000	0.64402	U	0.000020	T	0.66036	0.2749	M	0.90019	3.08	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.75258	-0.3381	10	0.87932	D	0	-24.4075	13.0362	0.58873	0.0:1.0:0.0:0.0	.	789	Q9UPR6	ZFR2_HUMAN	M	789	ENSP00000262961:V789M	ENSP00000262961:V789M	V	-	1	0	ZFR2	3761816	1.000000	0.71417	0.008000	0.14137	0.009000	0.06853	6.272000	0.72575	1.972000	0.57404	0.561000	0.74099	GTG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.701	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0.00	80	0	C	NM_015174		3810816	-1	tier1	-	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.991	T
ZNF142	7701	genome.wustl.edu	37	2	219506993	219506993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr2:219506993delC	ENST00000449707.1	-	8	4667	c.4246delG	c.(4246-4248)gatfs	p.D1416fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.D1416fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATCCCCATCCCCATCTGAG	0.602																																					Colon(170;867 1942 8995 15834 18053)												0													71.0	82.0	79.0					2																	219506993		2087	4212	6299	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4246delG	2.37:g.219506993delC	ENSP00000408643:p.Asp1416fs		Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1416fs	ENST00000449707.1	37	c.4246	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1		0.00	18	0	C	NM_005081		219506993	-1	tier1		no_errors	ENST00000411696	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-
ZNF329	79673	genome.wustl.edu	37	19	58639316	58639316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:58639316delT	ENST00000598312.1	-	4	1788	c.1555delA	c.(1555-1557)atgfs	p.M519fs	ZNF329_ENST00000358067.4_Frame_Shift_Del_p.M519fs	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTTGGAACATTTTTCCACAC	0.512																																																	0													183.0	167.0	172.0					19																	58639316		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1555delA	19.37:g.58639316delT	ENSP00000470008:p.Met519fs		B3KR32|Q9H9R7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M519fs	ENST00000598312.1	37	c.1555	CCDS12972.1	19																																																																																			ZNF329	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181894		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1		0.00	51	0	T	NM_024620		58639316	-1	tier1		no_errors	ENST00000358067	ensembl	human	known	74_37	frame_shift_del	6.52	43	3	DEL	0.013	-
ZNF710	374655	genome.wustl.edu	37	15	90610957	90610957	+	Silent	SNP	G	G	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr15:90610957G>T	ENST00000268154.4	+	2	839	c.588G>T	c.(586-588)cgG>cgT	p.R196R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	196	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CCCCGGCCCGGGATGGCTTCC	0.721																																																	0													13.0	17.0	16.0					15																	90610957		2137	4242	6379	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.588G>T	15.37:g.90610957G>T			A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R196	ENST00000268154.4	37	c.588	CCDS10358.1	15																																																																																			ZNF710	-	NULL	ENSG00000140548		0.721	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	-	0.00	32	0	G	NM_198526		90610957	+1	tier1	-	no_errors	ENST00000268154	ensembl	human	known	74_37	silent	75.00	1	3	SNP	0.012	T
ZNF843	283933	genome.wustl.edu	37	16	31447681	31447681	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr16:31447681C>T	ENST00000315678.5	-	2	1214	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	ZNF843_ENST00000564218.1_Missense_Mutation_p.V164I	NM_001136509.1	NP_001129981.1	Q8N446	ZN843_HUMAN	zinc finger protein 843	164							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|large_intestine(1)|prostate(1)	4						TGCGGAAGGACGCGCTGGGAG	0.647																																																	0													33.0	37.0	36.0					16																	31447681		692	1591	2283	SO:0001583	missense	0			BC036762	CCDS45471.1	16p11.2	2013-01-11			ENSG00000176723	ENSG00000176723		"""Zinc fingers, C2H2-type"""	28710	protein-coding gene	gene with protein product						12477932	Standard	NM_001136509		Approved	MGC46336	uc010vfm.1	Q8N446		ENST00000315678.5:c.490G>A	16.37:g.31447681C>T	ENSP00000322899:p.Val164Ile		A8K4U8	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V164I	ENST00000315678.5	37	c.490	CCDS45471.1	16	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247942	0.10130	.	.	ENSG00000176723	ENST00000315678	T	0.01025	5.43	0.986	-0.26	0.12967	Zinc finger, C2H2 (1);	.	.	.	.	T	0.00496	0.0016	N	0.04508	-0.205	0.09310	N	1	P	0.37525	0.598	B	0.30105	0.111	T	0.51387	-0.8712	9	0.30854	T	0.27	.	7.079	0.25221	0.0:0.3658:0.6342:0.0	.	164	Q8N446	ZN843_HUMAN	I	164	ENSP00000322899:V164I	ENSP00000322899:V164I	V	-	1	0	ZNF843	31355182	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-2.847000	0.00734	-0.078000	0.12730	0.205000	0.17691	GTC	ZNF843	-	pfscan_Znf_C2H2	ENSG00000176723		0.647	ZNF843-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF843	HGNC	protein_coding	OTTHUMT00000432843.1	-	0.00	31	0	C	NM_001136509		31447681	-1	tier1	-	no_errors	ENST00000315678	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.042	T
ZNF99	7652	genome.wustl.edu	37	19	22941476	22941476	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DN-01B-11D-A31U-09	TCGA-R6-A6DN-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f2b78b4-047e-4f81-be75-6acd061c3bbc	d17db4e5-5501-4125-b262-33777500f95a	g.chr19:22941476A>C	ENST00000596209.1	-	4	1325	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF99_ENST00000397104.3_Missense_Mutation_p.L321R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGTACAGTAAGTTTTGAGGA	0.368																																																	0													45.0	47.0	46.0					19																	22941476		1997	4201	6198	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1235T>G	19.37:g.22941476A>C	ENSP00000472969:p.Leu412Arg		M0R335	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.L321R	ENST00000596209.1	37	c.962	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	10.86	1.469867	0.26423	.	.	ENSG00000213973	ENST00000397104	T	0.26373	1.74	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51160	0.1658	M	0.88775	2.98	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28396	-1.0045	9	0.72032	D	0.01	.	5.9847	0.19428	1.0:0.0:0.0:0.0	.	321	A8MXY4	ZNF99_HUMAN	R	321	ENSP00000380293:L321R	ENSP00000380293:L321R	L	-	2	0	ZNF99	22733316	0.050000	0.20438	0.001000	0.08648	0.003000	0.03518	3.552000	0.53705	0.566000	0.29273	0.325000	0.21440	CTT	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	94	0	A	XM_065124		22941476	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.003	C
