#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
BBS12	166379	genome.wustl.edu	37	4	123665067	123665067	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:123665067C>T	ENST00000314218.3	+	2	2213	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	BBS12_ENST00000542236.1_Missense_Mutation_p.R674C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	674			R -> C (in BBS12). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGAGGCGTGGCGCCGAGCATT	0.368									Bardet-Biedl syndrome																																								0													78.0	80.0	80.0					4																	123665067		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2020C>T	4.37:g.123665067C>T	ENSP00000319062:p.Arg674Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R674C	ENST00000314218.3	37	c.2020	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849157	0.71603	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70045	-0.45;-0.45	5.91	5.91	0.95273	.	0.055375	0.64402	D	0.000001	T	0.81889	0.4918	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83123	-0.0117	10	0.87932	D	0	-31.3233	16.5383	0.84377	0.131:0.869:0.0:0.0	.	674	Q6ZW61	BBS12_HUMAN	C	674	ENSP00000319062:R674C;ENSP00000438273:R674C	ENSP00000319062:R674C	R	+	1	0	BBS12	123884517	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.199000	0.58426	2.793000	0.96121	0.655000	0.94253	CGC	BBS12	-	superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123665067	+1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32666475	32666475	+	Missense_Mutation	SNP	C	C	G	rs370410054		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:32666475C>G	ENST00000421745.2	+	17	4023	c.3889C>G	c.(3889-3891)Caa>Gaa	p.Q1297E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1297					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGATTTACTTCAAGAGGTCTC	0.328																																					Pancreas(94;175 1509 16028 18060 45422)												0								C	GLU/GLN	0,4406		0,0,2203	54.0	58.0	56.0		3889	5.9	1.0	2		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	BIRC6	NM_016252.3	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	1297/4858	32666475	1,13005	2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3889C>G	2.37:g.32666475C>G	ENSP00000393596:p.Gln1297Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q1297E	ENST00000421745.2	37	c.3889	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941602	0.92526	0.0	1.16E-4	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74737	-0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	L	0.40543	1.245	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.79095	-0.1944	10	0.42905	T	0.14	.	20.3886	0.98946	0.0:1.0:0.0:0.0	.	1297	Q9NR09	BIRC6_HUMAN	E	1297;183	ENSP00000393596:Q1297E	ENSP00000393596:Q1297E	Q	+	1	0	BIRC6	32519979	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.767000	0.85331	2.810000	0.96702	0.650000	0.86243	CAA	BIRC6	-	NULL		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32666475	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	G
CATSPERB	79820	genome.wustl.edu	37	14	92102780	92102780	+	Silent	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr14:92102780C>G	ENST00000256343.3	-	17	1887	c.1731G>C	c.(1729-1731)gtG>gtC	p.V577V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	577					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CAGAGTGTATCACTTTTCCAT	0.368																																																	0													166.0	152.0	156.0					14																	92102780		2203	4300	6503	SO:0001819	synonymous_variant	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1731G>C	14.37:g.92102780C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV51	Silent	SNP	superfamily_Neuraminidase	p.V577	ENST00000256343.3	37	c.1731	CCDS32142.1	14																																																																																			CATSPERB	-	NULL		0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92102780	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	silent	SNP	0.000	G
CCDC71	64925	genome.wustl.edu	37	3	49201117	49201117	+	Silent	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49201117G>A	ENST00000321895.6	-	2	631	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	175										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGACAACAGAGAGCCGCATGG	0.587																																																	0													55.0	59.0	58.0					3																	49201117		2203	4300	6503	SO:0001819	synonymous_variant	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.525C>T	3.37:g.49201117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	NULL	p.L175	ENST00000321895.6	37	c.525	CCDS2790.1	3																																																																																			CCDC71	-	NULL		0.587	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC71	HGNC	protein_coding	OTTHUMT00000345980.1	G	NM_022903		49201117	-1	no_errors	ENST00000321895	ensembl	human	known	70_37	silent	SNP	1.000	A
CENPF	1063	genome.wustl.edu	37	1	214830629	214830629	+	Missense_Mutation	SNP	C	C	T	rs566673745		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:214830629C>T	ENST00000366955.3	+	18	9007	c.8839C>T	c.(8839-8841)Cct>Tct	p.P2947S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3043	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGACCAACACCTGCTACCCC	0.463																																					Colon(80;575 1284 11000 14801 43496)												0													62.0	60.0	61.0					1																	214830629		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8839C>T	1.37:g.214830629C>T	ENSP00000355922:p.Pro2947Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.P2947S	ENST00000366955.3	37	c.8839	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702346	0.15172	.	.	ENSG00000117724	ENST00000366955	T	0.03035	4.07	5.6	3.73	0.42828	.	0.216561	0.23539	N	0.047085	T	0.03564	0.0102	L	0.38838	1.175	0.09310	N	1	B	0.28350	0.208	B	0.23716	0.048	T	0.38112	-0.9676	10	0.87932	D	0	.	7.2816	0.26314	0.0:0.6355:0.0:0.3645	.	3043	P49454	CENPF_HUMAN	S	2947	ENSP00000355922:P2947S	ENSP00000355922:P2947S	P	+	1	0	CENPF	212897252	0.027000	0.19231	0.021000	0.16686	0.195000	0.23768	1.056000	0.30480	0.834000	0.34852	0.650000	0.86243	CCT	CENPF	-	NULL		0.463	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214830629	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.198	T
CHD1	1105	genome.wustl.edu	37	5	98217695	98217695	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr5:98217695C>A	ENST00000284049.3	-	19	3000	c.2851G>T	c.(2851-2853)Ggt>Tgt	p.G951C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	951					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGGGCAGAACCTGTATGTAGT	0.333																																																	0													131.0	125.0	127.0					5																	98217695		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2851G>T	5.37:g.98217695C>A	ENSP00000284049:p.Gly951Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G951C	ENST00000284049.3	37	c.2851	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895453	0.72639	.	.	ENSG00000153922	ENST00000284049	D	0.95724	-3.79	4.88	4.88	0.63580	.	0.000000	0.34291	U	0.004084	D	0.97198	0.9084	M	0.76838	2.35	0.80722	D	1	D	0.61697	0.99	P	0.59889	0.865	D	0.97646	1.0151	10	0.62326	D	0.03	.	18.3808	0.90451	0.0:1.0:0.0:0.0	.	951	O14646	CHD1_HUMAN	C	951	ENSP00000284049:G951C	ENSP00000284049:G951C	G	-	1	0	CHD1	98245595	0.994000	0.37717	1.000000	0.80357	0.708000	0.40852	4.087000	0.57671	2.432000	0.82394	0.585000	0.79938	GGT	CHD1	-	NULL		0.333	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98217695	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	A
CR2	1380	genome.wustl.edu	37	1	207644373	207644373	+	Silent	SNP	C	C	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:207644373C>A	ENST00000367058.3	+	8	1623	c.1434C>A	c.(1432-1434)ctC>ctA	p.L478L	CR2_ENST00000367059.3_Silent_p.L478L|CR2_ENST00000367057.3_Silent_p.L478L|CR2_ENST00000458541.2_Silent_p.L478L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	478	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGCAACTCTTGACAAAAC	0.418																																																	0													173.0	164.0	167.0					1																	207644373		2203	4300	6503	SO:0001819	synonymous_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1434C>A	1.37:g.207644373C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L478	ENST00000367058.3	37	c.1434	CCDS1478.1	1																																																																																			CR2	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	C	NM_001877		207644373	+1	no_errors	ENST00000367057	ensembl	human	known	70_37	silent	SNP	0.133	A
DALRD3	55152	genome.wustl.edu	37	3	49053403	49053403	+	Intron	SNP	C	C	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49053403C>A	ENST00000341949.4	-	10	1450				DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Intron|DALRD3_ENST00000441576.2_Intron|DALRD3_ENST00000440857.1_Silent_p.V315V|DALRD3_ENST00000395462.4_Intron	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTCTATGCCTCACCATCTCTG	0.537																																																	0													72.0	79.0	77.0					3																	49053403		2203	4300	6503	SO:0001627	intron_variant	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1443+2G>T	3.37:g.49053403C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	superfamily_tRNAsynth_1a_anticodon-bd	p.V315	ENST00000341949.4	37	c.945	CCDS33754.1	3																																																																																			DALRD3	-	NULL		0.537	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49053403	-1	no_errors	ENST00000440857	ensembl	human	novel	70_37	silent	SNP	0.155	A
DALRD3	55152	genome.wustl.edu	37	3	49053409	49053409	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49053409C>T	ENST00000341949.4	-	10	1446	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Silent_p.E313E|DALRD3_ENST00000441576.2_Missense_Mutation_p.D472N|DALRD3_ENST00000440857.1_Silent_p.E313E|DALRD3_ENST00000395462.4_Silent_p.E313E	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	480					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCACCATCTCTGTGCGTA	0.547																																																	0													71.0	78.0	75.0					3																	49053409		2203	4300	6503	SO:0001819	synonymous_variant	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1440G>A	3.37:g.49053409C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	NULL	p.D472N	ENST00000341949.4	37	c.1414	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503110	0.64298	.	.	ENSG00000178149	ENST00000438585;ENST00000441576	T	0.51325	0.71	4.96	4.08	0.47627	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	B	0.33637	0.42	B	0.29077	0.098	T	0.08597	-1.0714	7	.	.	.	-27.1991	10.3771	0.44088	0.0:0.8441:0.0:0.1559	.	472	Q5D0E6-2	.	N	127;472	ENSP00000410623:D472N	.	D	-	1	0	DALRD3	49028413	0.111000	0.22076	0.976000	0.42696	0.725000	0.41563	0.157000	0.16402	1.317000	0.45149	0.556000	0.70494	GAT	DALRD3	-	NULL		0.547	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49053409	-1	no_errors	ENST00000441576	ensembl	human	known	70_37	missense	SNP	1.000	T
DALRD3	55152	genome.wustl.edu	37	3	49054734	49054734	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49054734C>G	ENST00000341949.4	-	5	860	c.854G>C	c.(853-855)tGt>tCt	p.C285S	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.C118S|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000441576.2_Missense_Mutation_p.C285S|DALRD3_ENST00000440857.1_Missense_Mutation_p.C118S|DALRD3_ENST00000395462.4_Missense_Mutation_p.C118S	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	285					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCCTCCTCACAGCTAACAAC	0.498																																																	0													112.0	115.0	114.0					3																	49054734		2203	4300	6503	SO:0001583	missense	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.854G>C	3.37:g.49054734C>G	ENSP00000344989:p.Cys285Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.C285S	ENST00000341949.4	37	c.854	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	c	20.6	4.013758	0.75161	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.50277	0.82;0.88;0.88;0.8;0.88;0.75	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.66939	2.045	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;1.0;0.997	D;D;D;D	0.74023	0.982;0.959;0.982;0.91	T	0.57154	-0.7860	10	0.06099	T	0.92	-16.4938	11.3524	0.49596	0.0:0.9174:0.0:0.0826	.	285;118;285;285	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	S	285;285;118;118;118;250	ENSP00000410623:C285S;ENSP00000344989:C285S;ENSP00000378846:C118S;ENSP00000403770:C118S;ENSP00000323265:C118S;ENSP00000397385:C250S	ENSP00000323265:C118S	C	-	2	0	DALRD3	49029738	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.221000	0.51215	2.640000	0.89533	0.645000	0.84053	TGT	DALRD3	-	NULL		0.498	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054734	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	missense	SNP	1.000	G
DALRD3	55152	genome.wustl.edu	37	3	49054887	49054887	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49054887C>G	ENST00000341949.4	-	4	784	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.E93Q|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000441576.2_Missense_Mutation_p.E260Q|DALRD3_ENST00000440857.1_Missense_Mutation_p.E93Q|DALRD3_ENST00000395462.4_Missense_Mutation_p.E93Q	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	260					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCTGTCCTCGGGCCAATGC	0.527																																																	0													54.0	57.0	56.0					3																	49054887		2203	4300	6503	SO:0001583	missense	55152			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.778G>C	3.37:g.49054887C>G	ENSP00000344989:p.Glu260Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.E260Q	ENST00000341949.4	37	c.778	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334432	0.24253	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.48522	0.84;0.87;0.86;0.81;0.86;0.89	5.12	-0.24	0.13047	.	1.258120	0.05248	N	0.513391	T	0.30386	0.0763	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24368	0.102;0.102;0.102;0.028	B;B;B;B	0.18561	0.022;0.022;0.022;0.007	T	0.16129	-1.0413	10	0.19590	T	0.45	-1.8732	6.237	0.20768	0.0:0.5415:0.1292:0.3294	.	260;93;260;260	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	Q	260;260;93;93;93;225	ENSP00000410623:E260Q;ENSP00000344989:E260Q;ENSP00000378846:E93Q;ENSP00000403770:E93Q;ENSP00000323265:E93Q;ENSP00000397385:E225Q	ENSP00000323265:E93Q	E	-	1	0	DALRD3	49029891	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.454000	0.06770	0.033000	0.15463	-0.141000	0.14075	GAG	DALRD3	-	NULL		0.527	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	C	NM_018114		49054887	-1	no_errors	ENST00000341949	ensembl	human	known	70_37	missense	SNP	0.000	G
DNAJC14	85406	genome.wustl.edu	37	12	56221839	56221839	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr12:56221839G>A	ENST00000357606.3	-	3	893	c.604C>T	c.(604-606)Cca>Tca	p.P202S	DNAJC14_ENST00000317287.5_Missense_Mutation_p.P202S|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P202S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	202					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCTTCGTTGGAAAGCGGTGC	0.552																																																	0													55.0	53.0	54.0					12																	56221839		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.604C>T	12.37:g.56221839G>A	ENSP00000350223:p.Pro202Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.P202S	ENST00000357606.3	37	c.604	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	4.315	0.057728	0.08339	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.28895	1.59;1.59;1.59	5.2	1.05	0.20165	.	0.739921	0.12301	N	0.481130	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25710	-1.0124	9	.	.	.	2.8759	6.4659	0.21981	0.1681:0.2859:0.546:0.0	.	202;202	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	S	202	ENSP00000350223:P202S;ENSP00000316240:P202S;ENSP00000317500:P202S	.	P	-	1	0	DNAJC14	54508106	0.005000	0.15991	0.016000	0.15963	0.629000	0.37895	0.026000	0.13599	0.684000	0.31448	0.650000	0.86243	CCA	DNAJC14	-	NULL		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56221839	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	0.006	A
ESPNP	284729	genome.wustl.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-		0.718	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	-			17034126	-1	no_errors	ENST00000492551	ensembl	human	known	70_37	rna	INS	1.000:1.000	AGCT
ECM1	1893	genome.wustl.edu	37	1	150482445	150482445	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:150482445C>T	ENST00000369047.4	+	4	396	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	ECM1_ENST00000346569.6_Silent_p.L91L|ECM1_ENST00000369049.4_Silent_p.L118L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	91					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAGGAAAAGCTGCTACCTGC	0.597																																					Melanoma(156;1696 2560 11093 19685)												0													87.0	86.0	86.0					1																	150482445		2203	4300	6503	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.271C>T	1.37:g.150482445C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.L118	ENST00000369047.4	37	c.352	CCDS953.1	1																																																																																			ECM1	-	pfam_ECM1		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	C	NM_004425		150482445	+1	no_errors	ENST00000369049	ensembl	human	known	70_37	silent	SNP	0.014	T
GGT2	728441	genome.wustl.edu	37	22	21568105	21568105	+	Silent	SNP	C	C	T	rs532644566	byFrequency	TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr22:21568105C>T	ENST00000401924.1	-	9	1283	c.792G>A	c.(790-792)ccG>ccA	p.P264P	GGT2_ENST00000405188.4_Silent_p.P264P|GGT2_ENST00000424627.1_Silent_p.P264P			P36268	GGT2_HUMAN	gamma-glutamyltransferase 2	264					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	anchored component of external side of plasma membrane (GO:0031362)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)										TGATGTTCAGCGGGTGCTCGA	0.617													c|||	79	0.0157748	0.0582	0.0029	5008	,	,		19236	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	728441			M30474		22q11.21	2012-04-19			ENSG00000133475	ENSG00000133475	2.3.2.2	"""Gamma-glutamyltransferases"""	4251	protein-coding gene	gene with protein product		137181		GGT		8104871, 18357469	Standard	XM_006724392		Approved		uc011aic.1	P36268	OTTHUMG00000150617	ENST00000401924.1:c.792G>A	22.37:g.21568105C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.P264	ENST00000401924.1	37	c.792		22																																																																																			GGT2	-	pfam_GGT_peptidase		0.617	GGT2-002	KNOWN	non_canonical_other|not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	GGT2	HGNC	protein_coding	OTTHUMT00000320092.2	C	XM_001129377		21568105	-1	no_errors	ENST00000401924	ensembl	human	known	70_37	silent	SNP	0.777	T
GLG1	2734	genome.wustl.edu	37	16	74528657	74528657	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr16:74528657C>A	ENST00000422840.2	-	6	1050		c.e6+1		GLG1_ENST00000205061.5_Splice_Site|GLG1_ENST00000447066.2_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATAATACTTACCTTTTCACTC	0.373																																																	0													78.0	77.0	78.0					16																	74528657		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1050+1G>T	16.37:g.74528657C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	-	e6+1	ENST00000422840.2	37	c.1050+1	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.103468	0.94245	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73086158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.215000	0.77966	2.820000	0.97059	0.650000	0.86243	.	GLG1	-	-		0.373	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	C	NM_012201	Intron	74528657	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GPR153	387509	genome.wustl.edu	37	1	6314644	6314644	+	Missense_Mutation	SNP	G	G	A	rs147474319		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:6314644G>A	ENST00000377893.2	-	2	581	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R108C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATCCACATGCGGTGGTAGGAG	0.542																																																	1	Substitution - Missense(1)	liver(1)						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	188.0	175.0	180.0		322	5.4	1.0	1	dbSNP_134	180	0,8600		0,0,4300	no	missense	GPR153	NM_207370.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	108/610	6314644	1,13005	2203	4300	6503	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.322C>T	1.37:g.6314644G>A	ENSP00000367125:p.Arg108Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.R108C	ENST00000377893.2	37	c.322	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725371	0.89298	2.27E-4	0.0	ENSG00000158292	ENST00000377893	D	0.97186	-4.28	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98602	1.0659	10	0.87932	D	0	-47.7624	17.7842	0.88532	0.0:0.0:1.0:0.0	.	108	Q6NV75	GP153_HUMAN	C	108	ENSP00000367125:R108C	ENSP00000367125:R108C	R	-	1	0	GPR153	6237231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.534000	0.85438	0.557000	0.71058	CGC	GPR153	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314644	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	A
GRID2	2895	genome.wustl.edu	37	4	93225752	93225753	+	5'UTR	INS	-	-	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:93225752_93225753insA	ENST00000282020.4	+	0	203_204				GRID2_ENST00000510992.1_5'Flank|RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGGACTGTTTGAAAAAAAAAAA	0.426																																																	0																																										SO:0001623	5_prime_UTR_variant	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.-55->A	4.37:g.93225763_93225763dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	INS	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-		0.426	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-			93225753	+1	no_errors	ENST00000505687	ensembl	human	known	70_37	rna	INS	0.001:0.000	A
KIF13A	63971	genome.wustl.edu	37	6	17850652	17850652	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:17850652G>C	ENST00000259711.6	-	8	724	c.619C>G	c.(619-621)Cga>Gga	p.R207G	KIF13A_ENST00000378843.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378814.5_Missense_Mutation_p.R207G|KIF13A_ENST00000378826.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378816.5_Missense_Mutation_p.R207G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	207	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R207G(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTACCGTTCGAGACTTATTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											101.0	99.0	99.0					6																	17850652		1934	4122	6056	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.619C>G	6.37:g.17850652G>C	ENSP00000259711:p.Arg207Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R207G	ENST00000259711.6	37	c.619	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988485	0.93106	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.78	5.78	0.91487	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	H	0.99626	4.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97614	1.0131	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	207;207;207;207	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	207	ENSP00000368091:R207G;ENSP00000259711:R207G;ENSP00000368103:R207G;ENSP00000368120:R207G;ENSP00000368093:R207G	ENSP00000259711:R207G	R	-	1	2	KIF13A	17958631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.238000	0.72350	2.724000	0.93272	0.563000	0.77884	CGA	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17850652	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNK16	83795	genome.wustl.edu	37	6	39286797	39286797	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:39286797A>G	ENST00000373229.5	-	2	339	c.326T>C	c.(325-327)aTa>aCa	p.I109T	KCNK16_ENST00000425054.2_Missense_Mutation_p.I109T|KCNK16_ENST00000507712.1_Missense_Mutation_p.I44T|KCNK16_ENST00000437525.2_Missense_Mutation_p.I109T|KCNK16_ENST00000373227.4_Missense_Mutation_p.I109T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	109					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTTTACCTATGGTAGTGAC	0.532																																																	0													78.0	80.0	80.0					6																	39286797		2203	4300	6503	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.326T>C	6.37:g.39286797A>G	ENSP00000362326:p.Ile109Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.I109T	ENST00000373229.5	37	c.326	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197336	0.79015	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.6	5.6	0.85130	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.87578	0.971;0.996;0.957;0.998	T	0.62882	-0.6760	10	0.59425	D	0.04	.	15.4523	0.75282	1.0:0.0:0.0:0.0	.	109;109;109;109	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	T	109;109;44;109;109	ENSP00000362326:I109T;ENSP00000391498:I109T;ENSP00000423842:I44T;ENSP00000362324:I109T;ENSP00000415375:I109T	ENSP00000362324:I109T	I	-	2	0	KCNK16	39394775	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.644000	0.74338	2.128000	0.65567	0.459000	0.35465	ATA	KCNK16	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl		0.532	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	A	NM_032115		39286797	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	1.000	G
KRTAP4-6	81871	genome.wustl.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																																	0																																										SO:0001819	synonymous_variant	81871			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BYR1	Silent	SNP	pfam_Keratin-assoc	p.I191	ENST00000345847.4	37	c.573	CCDS54125.1	17																																																																																			KRTAP4-6	-	NULL		0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	A			39296167	-1	no_errors	ENST00000345847	ensembl	human	known	70_37	silent	SNP	0.075	G
L1CAM	3897	genome.wustl.edu	37	X	153128962	153128962	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:153128962G>A	ENST00000370060.1	-	27	3689	c.3500C>T	c.(3499-3501)cCg>cTg	p.P1167L	L1CAM_ENST00000370057.3_Missense_Mutation_p.P1167L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P1162L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P1169L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P1167L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P1162L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P1169L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1167					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCATCGGTCGGGCCTC	0.627																																																	0													60.0	55.0	57.0					X																	153128962		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3500C>T	X.37:g.153128962G>A	ENSP00000359077:p.Pro1167Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	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	p.P1169L	ENST00000370060.1	37	c.3506	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370418	0.82573	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	4.57	4.57	0.56435	.	0.000000	0.53938	D	0.000052	D	0.92782	0.7705	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.944;0.992;0.985	D	0.93660	0.6981	10	0.66056	D	0.02	.	15.6115	0.76721	0.0:0.0:1.0:0.0	.	1162;1167;1167	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	1167;1169;1167;1169;1162;1162;67;1167	ENSP00000359077:P1167L;ENSP00000438430:P1169L;ENSP00000359074:P1167L;ENSP00000439645:P1169L;ENSP00000354712:P1162L;ENSP00000359072:P1162L;ENSP00000359075:P67L;ENSP00000355380:P1167L	ENSP00000355380:P1167L	P	-	2	0	L1CAM	152782156	1.000000	0.71417	0.924000	0.36721	0.978000	0.69477	6.071000	0.71229	2.015000	0.59207	0.529000	0.55759	CCG	L1CAM	-	NULL		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153128962	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.996	A
OTOP1	133060	genome.wustl.edu	37	4	4190576	4190577	+	Missense_Mutation	DNP	CG	CG	GC	rs200368405|rs199742451		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:4190576_4190577CG>GC	ENST00000296358.4	-	6	1816_1817	c.1792_1793CG>GC	c.(1792-1794)CGa>GCa	p.R598A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	598					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCGTGCATTCGATAGAAAATA	0.46																																																	0																																										SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1792_1793delinsGC	4.37:g.4190576_4190577delinsGC	ENSP00000296358:p.Arg598Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R598P|p.R598G	ENST00000296358.4	37	c.1793|c.1792	CCDS3372.1	4																																																																																			OTOP1	-	pfam_Otopetrin		0.460	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C|G	NM_177998		4190576|4190577	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	1.000	G|C
PCDH11X	27328	genome.wustl.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)												0													63.0	57.0	59.0					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1410C>T	X.37:g.91132649C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F470	ENST00000373094.1	37	c.1410	CCDS14461.1	X																																																																																			PCDH11X	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91132649	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	silent	SNP	0.076	T
PDE4DIP	9659	genome.wustl.edu	37	1	144879063	144879063	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:144879063C>T	ENST00000369354.3	-	27	4576	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1599K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1463K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1419K|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1599K|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1463					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAGCTCCTCAGCCAGCTTC	0.517			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													153.0	167.0	162.0					1																	144879063		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4387G>A	1.37:g.144879063C>T	ENSP00000358360:p.Glu1463Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E1463K	ENST00000369354.3	37	c.4387	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767678	0.90020	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02236	4.38;4.5;4.51;4.52;4.53	5.97	5.97	0.96955	.	.	.	.	.	T	0.03348	0.0097	M	0.64997	1.995	0.80722	D	1	P;P	0.50066	0.868;0.931	P;B	0.46758	0.526;0.437	T	0.47071	-0.9145	9	0.59425	D	0.04	.	17.9074	0.88923	0.0:1.0:0.0:0.0	.	1419;1463	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1419;1463;1463;1599;1599	ENSP00000327209:E1419K;ENSP00000358360:E1463K;ENSP00000358363:E1463K;ENSP00000435654:E1599K;ENSP00000358366:E1599K	ENSP00000327209:E1419K	E	-	1	0	PDE4DIP	143590420	0.948000	0.32251	0.983000	0.44433	0.872000	0.50106	2.514000	0.45503	2.835000	0.97688	0.591000	0.81541	GAG	PDE4DIP	-	NULL		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879063	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144879256	144879256	+	Silent	SNP	C	C	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:144879256C>A	ENST00000369354.3	-	27	4383	c.4194G>T	c.(4192-4194)ctG>ctT	p.L1398L	PDE4DIP_ENST00000369359.4_Silent_p.L1534L|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L1534L|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1398					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													93.0	100.0	98.0					1																	144879256		2203	4300	6503	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4194G>T	1.37:g.144879256C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L1398	ENST00000369354.3	37	c.4194	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144879256	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP6R3	55291	genome.wustl.edu	37	11	68312347	68312347	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr11:68312347C>G	ENST00000393800.2	+	4	523	c.269C>G	c.(268-270)tCc>tGc	p.S90C	PPP6R3_ENST00000524904.1_Missense_Mutation_p.S90C|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S90C|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S90C|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S90C|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S90C|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S90C|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S90C|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S90C	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	90					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGATGTCTCCCAGATGAAT	0.348																																																	0													97.0	94.0	95.0					11																	68312347		2200	4294	6494	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.269C>G	11.37:g.68312347C>G	ENSP00000377389:p.Ser90Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S90C	ENST00000393800.2	37	c.269	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627785	0.66901	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.31;-0.31;-0.33	4.97	4.97	0.65823	.	0.366696	0.34700	N	0.003742	T	0.77870	0.4195	M	0.67953	2.075	0.39464	D	0.967619	P;P;D;P;P;P	0.54047	0.746;0.862;0.964;0.94;0.931;0.86	P;P;P;P;P;P	0.58013	0.641;0.649;0.831;0.682;0.616;0.48	T	0.78740	-0.2086	10	0.44086	T	0.13	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	90;90;90;90;90;90	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	C	90	ENSP00000377388:S90C;ENSP00000377389:S90C;ENSP00000431415:S90C;ENSP00000265637:S90C;ENSP00000433058:S90C;ENSP00000377390:S90C;ENSP00000265636:S90C;ENSP00000437329:S90C;ENSP00000433565:S90C	ENSP00000265636:S90C	S	+	2	0	PPP6R3	68068923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.985000	0.56930	2.612000	0.88384	0.485000	0.47835	TCC	PPP6R3	-	NULL		0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68312347	+1	no_errors	ENST00000393799	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP6R3	55291	genome.wustl.edu	37	11	68312450	68312450	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr11:68312450C>T	ENST00000393800.2	+	4	626	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PPP6R3_ENST00000524904.1_Silent_p.F124F|PPP6R3_ENST00000265636.5_Silent_p.F124F|PPP6R3_ENST00000265637.4_Silent_p.F124F|PPP6R3_ENST00000393799.2_Silent_p.F124F|PPP6R3_ENST00000393801.3_Silent_p.F124F|PPP6R3_ENST00000529710.1_Silent_p.F124F|PPP6R3_ENST00000527403.2_Silent_p.F124F|PPP6R3_ENST00000534534.1_Silent_p.F33F|PPP6R3_ENST00000524845.1_Silent_p.F124F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	124					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCAGTTTCTTCAGCAAGGTGC	0.393																																																	0													100.0	100.0	100.0					11																	68312450		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.372C>T	11.37:g.68312450C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.F124	ENST00000393800.2	37	c.372	CCDS53672.1	11																																																																																			PPP6R3	-	superfamily_ARM-type_fold		0.393	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68312450	+1	no_errors	ENST00000393799	ensembl	human	known	70_37	silent	SNP	1.000	T
PRB2	653247	genome.wustl.edu	37	12	11547437	11547437	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr12:11547437A>G	ENST00000389362.4	-	2	127	c.92T>C	c.(91-93)cTa>cCa	p.L31P	PRB1_ENST00000546254.1_Missense_Mutation_p.L31P|PRB2_ENST00000545829.1_5'UTR	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	31						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTGCTATTAGGGAGGGAGA	0.418																																																	0													182.0	178.0	180.0					12																	11547437		2203	4300	6503	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.92T>C	12.37:g.11547437A>G	ENSP00000374013:p.Leu31Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.L31P	ENST00000389362.4	37	c.92	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	3.500	-0.102073	0.06967	.	.	ENSG00000251655;ENSG00000121335	ENST00000546254;ENST00000389362	T;T	0.05025	3.51;3.51	1.06	-2.12	0.07165	.	.	.	.	.	T	0.05090	0.0136	L	0.36672	1.1	0.09310	N	1	D	0.58268	0.982	P	0.44422	0.449	T	0.24048	-1.0171	9	0.51188	T	0.08	.	2.1797	0.03871	0.4316:0.3245:0.2439:0.0	.	31	P02812	PRB2_HUMAN	P	31	ENSP00000442127:L31P;ENSP00000374013:L31P	ENSP00000442127:L31P	L	-	2	0	PRB2;PRB1	11438704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-0.652000	0.05408	-0.404000	0.06349	CTA	PRB2	-	NULL		0.418	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	A	NM_006248		11547437	-1	no_errors	ENST00000389362	ensembl	human	known	70_37	missense	SNP	0.000	G
RAB10	10890	genome.wustl.edu	37	2	26257498	26257498	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:26257498C>T	ENST00000264710.4	+	1	520	c.21C>T	c.(19-21)gaC>gaT	p.D7D		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	7					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACGTACGACCTGCTTTTCA	0.582																																																	0													85.0	81.0	82.0					2																	26257498		2203	4300	6503	SO:0001819	synonymous_variant	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.21C>T	2.37:g.26257498C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D7	ENST00000264710.4	37	c.21	CCDS1720.1	2																																																																																			RAB10	-	smart_Small_GTPase_ARF,smart_Small_GTPase_Ras		0.582	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	C	NM_016131		26257498	+1	no_errors	ENST00000264710	ensembl	human	known	70_37	silent	SNP	1.000	T
RHAG	6005	genome.wustl.edu	37	6	49582479	49582479	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:49582479G>A	ENST00000371175.4	-	5	754	c.728C>T	c.(727-729)aCg>aTg	p.T243M	RHAG_ENST00000229810.7_Missense_Mutation_p.T243M	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	243					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGAGAAGTACGTGTTTACAAT	0.537																																					Ovarian(176;476 2003 7720 43408 44749)												0													222.0	190.0	201.0					6																	49582479		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.728C>T	6.37:g.49582479G>A	ENSP00000360217:p.Thr243Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.T243M	ENST00000371175.4	37	c.728	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014896	0.54468	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.54866	0.55;0.55	5.76	4.9	0.64082	Ammonium transporter AmtB-like (3);	0.042408	0.85682	D	0.000000	T	0.77391	0.4123	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85724	0.1327	10	0.87932	D	0	-21.9625	14.0024	0.64442	0.0724:0.0:0.9276:0.0	.	243;243;243	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	M	243	ENSP00000360217:T243M;ENSP00000229810:T243M	ENSP00000229810:T243M	T	-	2	0	RHAG	49690438	1.000000	0.71417	0.701000	0.30321	0.092000	0.18411	9.869000	0.99810	1.446000	0.47643	0.655000	0.94253	ACG	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.537	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	G			49582479	-1	no_errors	ENST00000371175	ensembl	human	known	70_37	missense	SNP	1.000	A
ROS1	6098	genome.wustl.edu	37	6	117662663	117662663	+	Missense_Mutation	SNP	G	G	A	rs45439298	byFrequency	TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:117662663G>A	ENST00000368508.3	-	29	5000	c.4802C>T	c.(4801-4803)gCc>gTc	p.A1601V	ROS1_ENST00000368507.3_Missense_Mutation_p.A1595V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1601	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAATTAGGGCCAGGTGTGA	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													184.0	166.0	172.0					6																	117662663		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4802C>T	6.37:g.117662663G>A	ENSP00000357494:p.Ala1601Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A1601V	ENST00000368508.3	37	c.4802	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	9.147	1.015356	0.19355	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54279	0.58;0.58	5.11	3.27	0.37495	.	0.686338	0.13791	N	0.362508	T	0.17746	0.0426	N	0.24115	0.695	0.09310	N	0.999998	B	0.27498	0.18	B	0.23574	0.047	T	0.15009	-1.0452	10	0.27082	T	0.32	.	11.769	0.51947	0.0:0.3431:0.6569:0.0	.	1601	P08922	ROS1_HUMAN	V	1601;1595	ENSP00000357494:A1601V;ENSP00000357493:A1595V	ENSP00000357493:A1595V	A	-	2	0	ROS1	117769356	0.023000	0.18921	0.078000	0.20375	0.558000	0.35554	2.063000	0.41423	0.526000	0.28541	0.655000	0.94253	GCC	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117662663	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.027	A
RPL10	6134	genome.wustl.edu	37	X	153629109	153629109	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chrX:153629109G>A	ENST00000369817.2	+	8	1135	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RPL10_ENST00000406022.2_Missense_Mutation_p.E136K|RPL10_ENST00000424325.2_Missense_Mutation_p.E187K|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	187					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E187K(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGTGGCTGAAAAGCGGCT	0.527																																																	1	Substitution - Missense(1)	urinary_tract(1)											38.0	37.0	37.0					X																	153629109		2203	4296	6499	SO:0001583	missense	6134			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.559G>A	X.37:g.153629109G>A	ENSP00000358832:p.Glu187Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.E187K	ENST00000369817.2	37	c.559	CCDS14746.1	X	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179896	0.57800	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022	T;T;T;T	0.73258	-0.72;-0.72;-0.72;-0.73	4.81	3.88	0.44766	.	0.137147	0.46442	U	0.000294	T	0.66809	0.2827	M	0.67397	2.05	0.58432	D	0.999997	B	0.06786	0.001	B	0.17433	0.018	T	0.65713	-0.6101	10	0.39692	T	0.17	-10.9872	11.2523	0.49032	0.0:0.1822:0.8178:0.0	.	187	P27635	RL10_HUMAN	K	187;187;187;187;136	ENSP00000358832:E187K;ENSP00000413436:E187K;ENSP00000341730:E187K;ENSP00000385621:E136K	ENSP00000341730:E187K	E	+	1	0	RPL10	153282303	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.654000	0.54453	1.976000	0.57569	0.600000	0.82982	GAA	RPL10	-	pirsf_Ribosomal_L10e		0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10	HGNC	protein_coding	OTTHUMT00000127774.5	G	NM_006013		153629109	+1	no_errors	ENST00000344746	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC47A1	55244	genome.wustl.edu	37	17	19451432	19451432	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr17:19451432C>G	ENST00000270570.4	+	4	527	c.441C>G	c.(439-441)gaC>gaG	p.D147E	SLC47A1_ENST00000436810.2_Missense_Mutation_p.D124E|SLC47A1_ENST00000575023.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000542886.1_Missense_Mutation_p.D147E|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.D147E	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	147					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCAGGCAGGACCCAGATGTGT	0.607																																																	0													95.0	78.0	84.0					17																	19451432		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.441C>G	17.37:g.19451432C>G	ENSP00000270570:p.Asp147Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.D147E	ENST00000270570.4	37	c.441	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570345	0.45798	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.14	3.95	0.45737	.	0.146938	0.64402	D	0.000011	T	0.35624	0.0938	L	0.41356	1.27	0.35179	D	0.772263	P;P;P;P	0.49696	0.655;0.927;0.725;0.678	P;P;P;P	0.51777	0.679;0.679;0.557;0.55	T	0.47129	-0.9141	10	0.46703	T	0.11	-10.6464	13.6136	0.62094	0.0:0.91:0.0:0.09	.	124;147;147;147	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	E	124;147;147;147;147	ENSP00000407155:D124E;ENSP00000270570:D147E;ENSP00000415586:D147E;ENSP00000440435:D147E;ENSP00000378951:D147E	ENSP00000270570:D147E	D	+	3	2	SLC47A1	19392024	0.937000	0.31787	1.000000	0.80357	0.520000	0.34377	0.038000	0.13862	2.398000	0.81561	0.462000	0.41574	GAC	SLC47A1	-	pfam_MATE,tigrfam_MATE		0.607	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	C	NM_018242		19451432	+1	no_errors	ENST00000395585	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX17	9784	genome.wustl.edu	37	2	27599219	27599219	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr2:27599219G>A	ENST00000233575.2	+	13	1444	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	SNX17_ENST00000542478.1_Missense_Mutation_p.D194N|SNX17_ENST00000537606.1_Missense_Mutation_p.D383N|SNX17_ENST00000543024.1_Missense_Mutation_p.D194N|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	408	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGACGCTCAGACAGCCAGCA	0.597																																																	0													69.0	74.0	73.0					2																	27599219		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1222G>A	2.37:g.27599219G>A	ENSP00000233575:p.Asp408Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.D408N	ENST00000233575.2	37	c.1222	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194598	0.38806	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.36878	1.7;1.23;1.29;1.23	5.36	4.48	0.54585	.	0.124900	0.64402	N	0.000001	T	0.34135	0.0887	L	0.45581	1.43	0.80722	D	1	B;B;B;P	0.52842	0.331;0.107;0.007;0.956	B;B;B;B	0.44224	0.078;0.032;0.003;0.444	T	0.08680	-1.0710	10	0.34782	T	0.22	-17.6736	12.9348	0.58307	0.0783:0.0:0.9217:0.0	.	383;396;388;408	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	408;194;383;194	ENSP00000233575:D408N;ENSP00000441779:D194N;ENSP00000439208:D383N;ENSP00000442567:D194N	ENSP00000233575:D408N	D	+	1	0	SNX17	27452723	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.815000	0.91973	1.507000	0.48752	-0.258000	0.10820	GAC	SNX17	-	NULL		0.597	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	G	NM_014748		27599219	+1	no_errors	ENST00000233575	ensembl	human	known	70_37	missense	SNP	1.000	A
SNX25	83891	genome.wustl.edu	37	4	186180183	186180183	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:186180183C>T	ENST00000504273.1	+	3	498	c.204C>T	c.(202-204)ctC>ctT	p.L68L	SNX25_ENST00000264694.8_Silent_p.L68L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	68	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GGACTTTACTCACTCATTTCT	0.408																																																	0													112.0	100.0	104.0					4																	186180183		2203	4300	6503	SO:0001819	synonymous_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.204C>T	4.37:g.186180183C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.L68	ENST00000504273.1	37	c.204	CCDS34116.1	4																																																																																			SNX25	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc		0.408	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	C	NM_031953		186180183	+1	no_errors	ENST00000264694	ensembl	human	known	70_37	silent	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30749702	30749702	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr16:30749702G>A	ENST00000262518.4	+	34	8726	c.8341G>A	c.(8341-8343)Gtc>Atc	p.V2781I	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.V2719I|SRCAP_ENST00000344771.4_Missense_Mutation_p.V2623I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2781	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCTGGGGTCTCTGAGAC	0.647																																																	0													49.0	55.0	53.0					16																	30749702		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8341G>A	16.37:g.30749702G>A	ENSP00000262518:p.Val2781Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.V2781I	ENST00000262518.4	37	c.8341	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	9.575	1.121928	0.20877	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92099	-2.93;-2.97;-2.96	4.84	4.84	0.62591	.	0.166220	0.28453	N	0.015283	T	0.81740	0.4886	N	0.08118	0	0.21020	N	0.999804	B;B	0.25809	0.135;0.034	B;B	0.21917	0.037;0.016	T	0.72981	-0.4126	10	0.56958	D	0.05	-4.1623	8.9787	0.35953	0.0987:0.0:0.9013:0.0	.	2719;2781	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2781;2719;2623	ENSP00000262518:V2781I;ENSP00000378499:V2719I;ENSP00000343042:V2623I	ENSP00000262518:V2781I	V	+	1	0	SRCAP	30657203	0.998000	0.40836	0.998000	0.56505	0.965000	0.64279	1.308000	0.33528	2.522000	0.85027	0.591000	0.81541	GTC	SRCAP	-	NULL		0.647	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30749702	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	A
STXBP1	6812	genome.wustl.edu	37	9	130425708	130425709	+	Intron	DNP	CC	CC	TT	rs557556080		TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr9:130425708_130425709CC>TT	ENST00000373299.1	+	7	693				STXBP1_ENST00000373302.3_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GACTCCTCCTCCGGCCTTAAGG	0.525																																																	0																																										SO:0001627	intron_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	Exception_encountered	9.37:g.130425708_130425709delinsTT		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	SNP	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			STXBP1	-	-		0.525	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	C	NM_003165		130425708|130425709	+1	no_errors	ENST00000496504	ensembl	human	known	70_37	rna	SNP	0.000	T
SYNE1	23345	genome.wustl.edu	37	6	152655170	152655170	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr6:152655170A>C	ENST00000367255.5	-	77	13368	c.12767T>G	c.(12766-12768)tTt>tGt	p.F4256C	SYNE1_ENST00000265368.4_Missense_Mutation_p.F4256C|SYNE1_ENST00000341594.5_Missense_Mutation_p.F4121C|SYNE1_ENST00000423061.1_Missense_Mutation_p.F4185C|SYNE1_ENST00000448038.1_Missense_Mutation_p.F4185C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4256					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGTAGTAAATTTTTCTAG	0.368										HNSCC(10;0.0054)																																							0													134.0	137.0	136.0					6																	152655170		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12767T>G	6.37:g.152655170A>C	ENSP00000356224:p.Phe4256Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F4256C	ENST00000367255.5	37	c.12767	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588702	0.66105	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.71	5.71	0.89125	.	0.096156	0.46442	D	0.000300	T	0.37625	0.1010	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.56287	0.975;0.958;0.958;0.975	P;P;P;P	0.55615	0.78;0.608;0.608;0.78	T	0.08973	-1.0696	10	0.38643	T	0.18	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	4256;4256;4256;4185	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	4256;4185;4256;4185;4121	ENSP00000356224:F4256C;ENSP00000396024:F4185C;ENSP00000265368:F4256C;ENSP00000390975:F4185C;ENSP00000341887:F4121C	ENSP00000265368:F4256C	F	-	2	0	SYNE1	152696863	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	A	NM_182961		152655170	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C
TGFB3	7043	genome.wustl.edu	37	14	76438001	76438001	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr14:76438001G>A	ENST00000238682.3	-	2	710	c.413C>T	c.(412-414)tCa>tTa	p.S138L	TGFB3_ENST00000556285.1_Missense_Mutation_p.S138L|RP11-270M14.5_ENST00000553732.1_lincRNA	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	138					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTTCTCCACTGAGGACACATT	0.522																																																	0													65.0	61.0	62.0					14																	76438001		2203	4300	6503	SO:0001583	missense	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.413C>T	14.37:g.76438001G>A	ENSP00000238682:p.Ser138Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WV88	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.S138L	ENST00000238682.3	37	c.413	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394995	0.62066	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.69040	-0.37;-0.37	5.7	5.7	0.88788	Transforming growth factor-beta, N-terminal (1);	0.205096	0.43260	D	0.000589	T	0.65186	0.2667	L	0.55481	1.735	0.42771	D	0.993837	B	0.32467	0.372	B	0.32762	0.152	T	0.65825	-0.6074	10	0.51188	T	0.08	-9.492	18.0149	0.89236	0.0:0.0:1.0:0.0	.	138	P10600	TGFB3_HUMAN	L	138	ENSP00000238682:S138L;ENSP00000451110:S138L	ENSP00000238682:S138L	S	-	2	0	TGFB3	75507754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.357000	0.52277	2.696000	0.92011	0.561000	0.74099	TCA	TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3		0.522	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	G	NM_003239		76438001	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	missense	SNP	0.999	A
TRIM42	287015	genome.wustl.edu	37	3	140401673	140401673	+	Silent	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:140401673C>T	ENST00000286349.3	+	2	902	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	237						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGCCCATCCTCTGCCAGGTCT	0.627																																																	0													73.0	72.0	72.0					3																	140401673		2203	4300	6503	SO:0001819	synonymous_variant	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.711C>T	3.37:g.140401673C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L237	ENST00000286349.3	37	c.711	CCDS3113.1	3																																																																																			TRIM42	-	smart_Znf_B-box		0.627	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	C	NM_152616		140401673	+1	no_errors	ENST00000286349	ensembl	human	known	70_37	silent	SNP	0.804	T
UBA52	7311	genome.wustl.edu	37	19	18684538	18684538	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr19:18684538C>T	ENST00000442744.2	+	3	228	c.170C>T	c.(169-171)tCa>tTa	p.S57L	UBA52_ENST00000598780.1_Missense_Mutation_p.S57L|UBA52_ENST00000599595.1_Missense_Mutation_p.S57L|UBA52_ENST00000596304.1_Missense_Mutation_p.S57L|UBA52_ENST00000595683.1_Missense_Mutation_p.S57L|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000597451.1_Missense_Mutation_p.S57L|UBA52_ENST00000599551.1_Missense_Mutation_p.S57L|UBA52_ENST00000595158.1_Missense_Mutation_p.S57L|UBA52_ENST00000596273.1_Missense_Mutation_p.S57L|UBA52_ENST00000430157.2_Missense_Mutation_p.S57L	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CGCACTCTCTCAGACTACAAC	0.592																																																	0													50.0	48.0	49.0					19																	18684538		2203	4300	6503	SO:0001583	missense	7311				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.170C>T	19.37:g.18684538C>T	ENSP00000388107:p.Ser57Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.S57L	ENST00000442744.2	37	c.170	CCDS12382.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435925	0.83885	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.74526	-0.85;-0.85	4.81	4.81	0.61882	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.74389	2.26	0.80722	D	1	P	0.38300	0.626	B	0.39465	0.3	T	0.80786	-0.1227	10	0.87932	D	0	-12.3763	15.3581	0.74443	0.0:1.0:0.0:0.0	.	57	P62987	RL40_HUMAN	L	57	ENSP00000388107:S57L;ENSP00000396910:S57L	ENSP00000396910:S57L	S	+	2	0	UBA52	18545538	1.000000	0.71417	0.919000	0.36401	0.406000	0.30931	7.663000	0.83820	2.220000	0.72140	0.462000	0.41574	TCA	UBA52	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.592	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA52	HGNC	protein_coding	OTTHUMT00000465117.2	C	NM_003333		18684538	+1	no_errors	ENST00000430157	ensembl	human	known	70_37	missense	SNP	0.999	T
UGT2B17	7367	genome.wustl.edu	37	4	69433510	69433510	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr4:69433510C>G	ENST00000317746.2	-	1	735	c.693G>C	c.(691-693)aaG>aaC	p.K231N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	231					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	GGTCCCACTTCTTCAGATCAT	0.323																																					Melanoma(18;649 833 28984 37818 38500)												0													92.0	99.0	97.0					4																	69433510		2092	3941	6033	SO:0001583	missense	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.693G>C	4.37:g.69433510C>G	ENSP00000320401:p.Lys231Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K231N	ENST00000317746.2	37	c.693	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	c	10.53	1.375594	0.24857	.	.	ENSG00000197888	ENST00000317746	T	0.61627	0.09	2.66	2.66	0.31614	.	0.624976	0.14042	U	0.345372	T	0.57446	0.2054	M	0.61703	1.905	0.23930	N	0.99643	.	.	.	.	.	.	T	0.51679	-0.8675	8	0.51188	T	0.08	.	5.5669	0.17175	0.0:0.8414:0.0:0.1586	.	.	.	.	N	231	ENSP00000320401:K231N	ENSP00000320401:K231N	K	-	3	2	UGT2B17	69116105	0.066000	0.20996	0.056000	0.19401	0.002000	0.02628	0.241000	0.18065	1.516000	0.48900	0.499000	0.49734	AAG	UGT2B17	-	pfam_UDP_glucos_trans		0.323	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	C	NM_001077		69433510	-1	no_errors	ENST00000317746	ensembl	human	known	70_37	missense	SNP	0.912	G
USH2A	7399	genome.wustl.edu	37	1	216465554	216465554	+	Silent	SNP	T	T	C			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr1:216465554T>C	ENST00000307340.3	-	10	2189	c.1803A>G	c.(1801-1803)ggA>ggG	p.G601G	USH2A_ENST00000366942.3_Silent_p.G601G|USH2A_ENST00000366943.2_Silent_p.G601G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	601	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTCCTCCTCCCCCTCTGA	0.423										HNSCC(13;0.011)																																							0													158.0	139.0	146.0					1																	216465554		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1803A>G	1.37:g.216465554T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G601	ENST00000307340.3	37	c.1803	CCDS31025.1	1																																																																																			USH2A	-	pfam_EGF_laminin,smart_EGF_laminin		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216465554	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.477	C
WDR6	11180	genome.wustl.edu	37	3	49051891	49051891	+	Silent	SNP	C	C	G			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr3:49051891C>G	ENST00000608424.1	+	4	2781	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	WDR6_ENST00000395474.3_Silent_p.L944L|WDR6_ENST00000415265.2_Silent_p.L362L|WDR6_ENST00000448293.1_Silent_p.L863L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	914					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GATGTGTCCTCAAGGTCCACT	0.597											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100.0	97.0	98.0					3																	49051891		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2742C>G	3.37:g.49051891C>G		Somatic	959	WXS	Illumina HiSeq	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L944	ENST00000608424.1	37	c.2832		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	C			49051891	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	1.000	G
ZER1	10444	genome.wustl.edu	37	9	131513487	131513487	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr9:131513487G>A	ENST00000291900.2	-	7	1505	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	367					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATCTCAGGCCGGTGCTCCGTG	0.602																																																	0													91.0	75.0	80.0					9																	131513487		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1099C>T	9.37:g.131513487G>A	ENSP00000291900:p.Arg367Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.R367W	ENST00000291900.2	37	c.1099	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808407	0.70797	.	.	ENSG00000160445	ENST00000291900	T	0.07114	3.22	5.24	3.33	0.38152	Armadillo-type fold (1);	0.123816	0.56097	D	0.000028	T	0.28532	0.0706	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.04294	-1.0962	10	0.87932	D	0	-33.1705	15.6159	0.76767	0.0:0.0:0.842:0.158	.	367	Q7Z7L7	ZER1_HUMAN	W	367	ENSP00000291900:R367W	ENSP00000291900:R367W	R	-	1	2	ZER1	130553308	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	2.872000	0.48467	0.550000	0.28991	0.306000	0.20318	CGG	ZER1	-	superfamily_ARM-type_fold		0.602	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	G	NM_006336		131513487	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF578	147660	genome.wustl.edu	37	19	53014316	53014316	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MP-01A-11D-A14W-08	TCGA-C5-A1MP-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d	3bb2b2a1-d6a2-40a9-8193-897a3d03d771	g.chr19:53014316G>C	ENST00000421239.2	+	6	926	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACACATGAGAGAAAAATCTTT	0.318																																																	0													67.0	69.0	68.0					19																	53014316		2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.682G>C	19.37:g.53014316G>C	ENSP00000459216:p.Glu228Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR51|I3L1Y6	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.E228Q	ENST00000421239.2	37	c.682	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	13.77	2.336095	0.41398	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.54870	0.1885	M	0.74546	2.27	0.09310	N	1	D	0.63880	0.993	D	0.71656	0.974	T	0.48581	-0.9023	7	.	.	.	.	4.7493	0.13052	0.2133:0.1821:0.6046:0.0	.	228	G3V4F6	.	Q	228	.	.	E	+	1	0	ZNF578	57706128	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	0.006000	0.13152	-1.188000	0.02705	-0.750000	0.03501	GAA	ZNF578	-	NULL		0.318	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014316	+1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.066	C
