#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
ALKBH3	221120	genome.wustl.edu	37	11	43941472	43941472	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:43941472G>A	ENST00000302708.4	+	10	1184	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000534287.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	258	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ATTTAGCATCGAGTGCCCAAA	0.423								Direct reversal of damage																																									0													155.0	148.0	150.0					11																	43941472		2203	4300	6503	SO:0001583	missense	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.773G>A	11.37:g.43941472G>A	ENSP00000302232:p.Arg258Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.R258Q	ENST00000302708.4	37	c.773	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890842	0.33348	.	.	ENSG00000166199	ENST00000302708	T	0.13901	2.55	5.67	5.67	0.87782	Oxoglutarate/iron-dependent oxygenase (2);	0.202809	0.44688	D	0.000427	T	0.06600	0.0169	N	0.16016	0.355	0.80722	D	1	P	0.45011	0.848	B	0.30105	0.111	T	0.45745	-0.9240	10	0.15066	T	0.55	-7.6255	15.2731	0.73720	0.0:0.0:1.0:0.0	.	258	Q96Q83	ALKB3_HUMAN	Q	258	ENSP00000302232:R258Q	ENSP00000302232:R258Q	R	+	2	0	ALKBH3	43898048	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	3.280000	0.51677	2.677000	0.91161	0.655000	0.94253	CGA	ALKBH3	-	pfam_Oxoglu/Fe-dep_dioxygenase		0.423	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	G	NM_139178		43941472	+1	no_errors	ENST00000302708	ensembl	human	known	70_37	missense	SNP	1.000	A
AMY2B	280	genome.wustl.edu	37	1	104115771	104115771	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:104115771C>T	ENST00000361355.4	+	5	1018	c.402C>T	c.(400-402)ttC>ttT	p.F134F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	134					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAAGTTACTTCAACCCTGGAA	0.403																																																	0													251.0	267.0	261.0					1																	104115771		2202	4284	6486	SO:0001819	synonymous_variant	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.402C>T	1.37:g.104115771C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.F134	ENST00000361355.4	37	c.402	CCDS782.1	1																																																																																			AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.403	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	C	NM_020978		104115771	+1	no_errors	ENST00000361355	ensembl	human	known	70_37	silent	SNP	1.000	T
AP1M1	8907	genome.wustl.edu	37	19	16317185	16317185	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:16317185C>T	ENST00000291439.3	+	3	682	c.233C>T	c.(232-234)tCg>tTg	p.S78L	AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.S78L|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.S78L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	78					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GCGTGCGTGTCGCTGGTCTTT	0.582																																																	0													290.0	259.0	270.0					19																	16317185		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.233C>T	19.37:g.16317185C>T	ENSP00000291439:p.Ser78Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S78L	ENST00000291439.3	37	c.233	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443875	0.25987	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.61859	0.69;0.67;0.07	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.38733	1.17	0.80722	D	1	B;B;B	0.29805	0.006;0.257;0.257	B;B;B	0.31751	0.009;0.094;0.135	T	0.54840	-0.8233	10	0.54805	T	0.06	-15.886	14.9163	0.70801	0.0:1.0:0.0:0.0	.	78;78;78	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	L	78	ENSP00000388996:S78L;ENSP00000291439:S78L;ENSP00000411498:S78L	ENSP00000291439:S78L	S	+	2	0	AP1M1	16178185	0.998000	0.40836	0.254000	0.24359	0.003000	0.03518	4.515000	0.60489	1.852000	0.53769	0.655000	0.94253	TCG	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu		0.582	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	C	NM_032493		16317185	+1	no_errors	ENST00000444449	ensembl	human	known	70_37	missense	SNP	0.999	T
BARHL2	343472	genome.wustl.edu	37	1	91182608	91182608	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:91182608G>C	ENST00000370445.4	-	1	186	c.145C>G	c.(145-147)Cca>Gca	p.P49A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	49					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAGGGAGATGGGGTGGCCTGA	0.597																																					GBM(199;3561 4100 22440)												0													82.0	90.0	87.0					1																	91182608		2203	4300	6503	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.145C>G	1.37:g.91182608G>C	ENSP00000359474:p.Pro49Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P49A	ENST00000370445.4	37	c.145	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989478	0.74589	.	.	ENSG00000143032	ENST00000370445	D	0.91295	-2.82	5.92	5.92	0.95590	.	0.159498	0.56097	D	0.000026	T	0.70780	0.3263	N	0.04508	-0.205	0.39819	D	0.972805	B	0.25667	0.131	B	0.19148	0.024	T	0.69335	-0.5172	10	0.21014	T	0.42	.	17.8151	0.88630	0.0:0.0:1.0:0.0	.	49	Q9NY43	BARH2_HUMAN	A	49	ENSP00000359474:P49A	ENSP00000359474:P49A	P	-	1	0	BARHL2	90955196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.647000	0.74354	2.810000	0.96702	0.650000	0.86243	CCA	BARHL2	-	NULL		0.597	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182608	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	1.000	C
BTBD11	121551	genome.wustl.edu	37	12	108013935	108013935	+	Silent	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:108013935G>A	ENST00000280758.5	+	11	3153	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_ENST00000420571.2_Silent_p.A756A|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.A412A|BTBD11_ENST00000490090.2_Silent_p.A875A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	875						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507																																																	0													114.0	111.0	112.0					12																	108013935		2203	4300	6503	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2625G>A	12.37:g.108013935G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A875	ENST00000280758.5	37	c.2625	CCDS31893.1	12																																																																																			BTBD11	-	NULL		0.507	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	G	NM_152322		108013935	+1	no_errors	ENST00000280758	ensembl	human	known	70_37	silent	SNP	0.768	A
C17orf102	400591	genome.wustl.edu	37	17	32906120	32906120	+	Silent	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:32906120G>A	ENST00000357754.1	-	1	268	c.180C>T	c.(178-180)tgC>tgT	p.C60C	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	60										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAGAGCGGCTGCAAAACACCT	0.657																																																	0													42.0	50.0	48.0					17																	32906120		1869	4080	5949	SO:0001819	synonymous_variant	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.180C>T	17.37:g.32906120G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX0|Q6ZTB3	Silent	SNP	NULL	p.C60	ENST00000357754.1	37	c.180	CCDS42297.1	17																																																																																			C17orf102	-	NULL		0.657	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32906120	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	silent	SNP	0.952	A
C5orf56	441108	genome.wustl.edu	37	5	131792780	131792780	+	Intron	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:131792780G>A	ENST00000337752.2	+	4	219				C5orf56_ENST00000378947.3_Silent_p.R55R|C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56											breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGCTACAGGAGGCCCGAGG	0.617																																																	0																																										SO:0001627	intron_variant	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.89-3474G>A	5.37:g.131792780G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3V9|A6NKA0	Silent	SNP	NULL	p.R55	ENST00000337752.2	37	c.165		5																																																																																			C5orf56	-	NULL		0.617	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	G	NM_001013717		131792780	+1	no_errors	ENST00000378947	ensembl	human	novel	70_37	silent	SNP	0.000	A
CCDC178	374864	genome.wustl.edu	37	18	30846981	30846981	+	Silent	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:30846981T>C	ENST00000383096.3	-	14	1490	c.1308A>G	c.(1306-1308)gcA>gcG	p.A436A	CCDC178_ENST00000406524.2_Silent_p.A436A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.A436A|CCDC178_ENST00000403303.1_Silent_p.A436A|CCDC178_ENST00000583930.1_Silent_p.A436A|CCDC178_ENST00000579947.1_Silent_p.A436A|CCDC178_ENST00000402325.1_Silent_p.A436A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	436																	AAAAATCTTTTGCAACATCAG	0.269																																																	0													47.0	48.0	48.0					18																	30846981		2203	4287	6490	SO:0001819	synonymous_variant	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1308A>G	18.37:g.30846981T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.A436	ENST00000383096.3	37	c.1308	CCDS42424.1	18																																																																																			CCDC178	-	NULL		0.269	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	T	NM_198995		30846981	-1	no_errors	ENST00000406524	ensembl	human	known	70_37	silent	SNP	0.652	C
CCDC88B	283234	genome.wustl.edu	37	11	64108934	64108934	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:64108934C>T	ENST00000356786.5	+	6	533	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	163						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCAGGGCCTCAGTCTCGAGG	0.637																																																	0													52.0	51.0	51.0					11																	64108934		2201	4297	6498	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.489C>T	11.37:g.64108934C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.L163	ENST00000356786.5	37	c.489	CCDS8072.2	11																																																																																			CCDC88B	-	pfam_HOOK		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	C	NM_032251		64108934	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	1.000	T
CDHR2	54825	genome.wustl.edu	37	5	176002413	176002413	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:176002413G>A	ENST00000510636.1	+	9	1028	c.754G>A	c.(754-756)Gag>Aag	p.E252K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E252K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E252K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCTGTGGCTGAGGATGCAGC	0.627																																																	0													77.0	78.0	78.0					5																	176002413		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.754G>A	5.37:g.176002413G>A	ENSP00000424565:p.Glu252Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E252K	ENST00000510636.1	37	c.754	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165823	0.78339	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.76316	-1.01;-1.01;-1.01	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92224	0.7534	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94895	0.8051	9	0.87932	D	0	-23.3848	14.7731	0.69693	0.0:0.0:1.0:0.0	.	252	Q9BYE9	CDHR2_HUMAN	K	252	ENSP00000424565:E252K;ENSP00000261944:E252K;ENSP00000421078:E252K	ENSP00000261944:E252K	E	+	1	0	CDHR2	175935019	1.000000	0.71417	0.710000	0.30468	0.684000	0.39900	6.503000	0.73699	2.238000	0.73509	0.478000	0.44815	GAG	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		176002413	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.880	A
CECR2	27443	genome.wustl.edu	37	22	18020198	18020198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:18020198G>A	ENST00000400585.2	+	14	1542	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	CECR2_ENST00000262608.8_Nonsense_Mutation_p.W510*|CECR2_ENST00000400573.5_Nonsense_Mutation_p.W509*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	551					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGAATTTTGGATTCGAGAGG	0.493																																																	0													33.0	37.0	36.0					22																	18020198		1899	4119	6018	SO:0001587	stop_gained	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1104G>A	22.37:g.18020198G>A	ENSP00000383428:p.Trp368*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.W509*	ENST00000400585.2	37	c.1527		22	.	.	.	.	.	.	.	.	.	.	G	37	6.476378	0.97598	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.95	5.95	0.96441	.	0.000000	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-14.7427	20.3719	0.98893	0.0:0.0:1.0:0.0	.	.	.	.	X	368;509;510	.	ENSP00000262608:W510X	W	+	3	0	CECR2	16400198	1.000000	0.71417	0.987000	0.45799	0.877000	0.50540	4.613000	0.61176	2.826000	0.97356	0.491000	0.48974	TGG	CECR2	-	NULL		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18020198	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	nonsense	SNP	1.000	A
CLTC	1213	genome.wustl.edu	37	17	57741230	57741230	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:57741230C>G	ENST00000269122.3	+	9	1670	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	CLTC_ENST00000393043.1_Missense_Mutation_p.L466V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	466	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTGGGTGATCTTGTGAAATC	0.418			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													143.0	133.0	137.0					17																	57741230		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1396C>G	17.37:g.57741230C>G	ENSP00000269122:p.Leu466Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L466V	ENST00000269122.3	37	c.1396	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971650	0.53614	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22945	1.93;1.93	5.38	5.38	0.77491	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.74546	2.27	0.80722	D	1	D;B	0.64830	0.994;0.014	D;B	0.76575	0.988;0.149	T	0.52480	-0.8570	10	0.51188	T	0.08	.	19.4922	0.95054	0.0:1.0:0.0:0.0	.	466;466	Q00610;Q00610-2	CLH1_HUMAN;.	V	466	ENSP00000269122:L466V;ENSP00000376763:L466V	ENSP00000269122:L466V	L	+	1	0	CLTC	55096012	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.011000	0.57124	2.676000	0.91093	0.563000	0.77884	CTT	CLTC	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	C	NM_004859		57741230	+1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G
COL6A2	1292	genome.wustl.edu	37	21	47552113	47552113	+	Missense_Mutation	SNP	G	G	A	rs373611722		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr21:47552113G>A	ENST00000300527.4	+	28	2811	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	903	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCATCCACGAGGCGCTGGA	0.682																																																	0								G	LYS/GLU	1,4361		0,1,2180	16.0	15.0	16.0		2707	1.9	1.0	21		16	1,8573		0,1,4286	no	missense	COL6A2	NM_001849.3	56	0,2,6466	AA,AG,GG		0.0117,0.0229,0.0155	benign	903/1020	47552113	2,12934	2181	4287	6468	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2707G>A	21.37:g.47552113G>A	ENSP00000300527:p.Glu903Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E903K	ENST00000300527.4	37	c.2707	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889669	0.17540	2.29E-4	1.17E-4	ENSG00000142173	ENST00000300527	T	0.77620	-1.11	4.18	1.92	0.25849	von Willebrand factor, type A (3);	0.523072	0.20834	U	0.084828	T	0.56717	0.2004	L	0.33485	1.01	0.58432	D	0.999991	P	0.40660	0.726	B	0.35470	0.203	T	0.54689	-0.8256	10	0.07175	T	0.84	-20.549	6.4858	0.22087	0.1654:0.3132:0.5214:0.0	.	903	P12110	CO6A2_HUMAN	K	903	ENSP00000300527:E903K	ENSP00000300527:E903K	E	+	1	0	COL6A2	46376541	0.723000	0.28027	0.998000	0.56505	0.318000	0.28184	1.030000	0.30153	0.734000	0.32515	0.313000	0.20887	GAG	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	G			47552113	+1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	0.713	A
COLEC11	78989	genome.wustl.edu	37	2	3691678	3691678	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:3691678C>T	ENST00000349077.4	+	7	889	c.786C>T	c.(784-786)ttC>ttT	p.F262F	COLEC11_ENST00000402794.1_Silent_p.F212F|COLEC11_ENST00000382062.2_Silent_p.F238F|COLEC11_ENST00000236693.7_Silent_p.F259F|COLEC11_ENST00000404205.1_Silent_p.F188F|COLEC11_ENST00000402922.1_Silent_p.F212F|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.F276F|COLEC11_ENST00000403096.3_Silent_p.F236F	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	262	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCATGTACTTCATGTGTGAGT	0.627																																																	0													55.0	56.0	56.0					2																	3691678		2203	4300	6503	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.786C>T	2.37:g.3691678C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F276	ENST00000349077.4	37	c.828	CCDS1649.1	2																																																																																			COLEC11	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.627	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	C	NM_024027		3691678	+1	no_errors	ENST00000418971	ensembl	human	known	70_37	silent	SNP	0.997	T
CTNND1	1500	genome.wustl.edu	37	11	57576858	57576858	+	Silent	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:57576858T>C	ENST00000399050.4	+	15	2891	c.2355T>C	c.(2353-2355)gtT>gtC	p.V785V	CTNND1_ENST00000529919.1_Silent_p.V785V|CTNND1_ENST00000526772.1_Silent_p.V456V|CTNND1_ENST00000399039.4_Silent_p.V785V|CTNND1_ENST00000358694.6_Silent_p.V779V|CTNND1_ENST00000532844.1_Silent_p.V731V|CTNND1_ENST00000529986.1_Silent_p.V678V|CTNND1_ENST00000415361.2_Silent_p.V684V|CTNND1_ENST00000533667.1_Silent_p.V456V|CTNND1_ENST00000530094.1_Silent_p.V678V|CTNND1_ENST00000428599.2_Silent_p.V779V|CTNND1_ENST00000361332.4_Silent_p.V779V|CTNND1_ENST00000532245.1_Silent_p.V678V|CTNND1_ENST00000527467.1_Silent_p.V462V|CTNND1_ENST00000361391.6_Silent_p.V779V|CTNND1_ENST00000529526.1_Silent_p.V725V|CTNND1_ENST00000532463.1_Silent_p.V678V|CTNND1_ENST00000534579.1_Silent_p.V725V|CTNND1_ENST00000526357.1_Silent_p.V725V|CTNND1_ENST00000529873.1_Silent_p.V725V|CTNND1_ENST00000361796.4_Silent_p.V779V|CTNND1_ENST00000360682.6_Silent_p.V785V|CTNND1_ENST00000525902.1_Silent_p.V462V|CTNND1_ENST00000532649.1_Silent_p.V725V|CTNND1_ENST00000532787.1_Silent_p.V678V|CTNND1_ENST00000524630.1_Silent_p.V779V|CTNND1_ENST00000526938.1_Silent_p.V785V|CTNND1_ENST00000426142.2_Silent_p.V678V|CTNND1_ENST00000530748.1_Silent_p.V731V|CTNND1_ENST00000531014.1_Silent_p.V456V|CTNND1_ENST00000528232.1_Silent_p.V684V|CTNND1_ENST00000528621.1_Silent_p.V725V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	785					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCAACGAGGTTATCGCTGAGA	0.443																																																	0													87.0	87.0	87.0					11																	57576858		1884	4100	5984	SO:0001819	synonymous_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2355T>C	11.37:g.57576858T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V785	ENST00000399050.4	37	c.2355	CCDS44604.1	11																																																																																			CTNND1	-	superfamily_ARM-type_fold		0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	T	NM_001331		57576858	+1	no_errors	ENST00000399050	ensembl	human	known	70_37	silent	SNP	0.994	C
DNAH1	25981	genome.wustl.edu	37	3	52417483	52417483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:52417483C>T	ENST00000420323.2	+	51	8284	c.8023C>T	c.(8023-8025)Cag>Tag	p.Q2675*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2675	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGGACGAGCAGGACCAGAT	0.557																																																	0													78.0	79.0	78.0					3																	52417483		2036	4193	6229	SO:0001587	stop_gained	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8023C>T	3.37:g.52417483C>T	ENSP00000401514:p.Gln2675*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.Q2675*	ENST00000420323.2	37	c.8023	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	48	14.307458	0.99789	.	.	ENSG00000114841	ENST00000420323	.	.	.	4.87	4.87	0.63330	.	0.133715	0.33959	N	0.004381	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	9.0323	0.36267	0.0:0.7721:0.149:0.0789	.	.	.	.	X	2675	.	ENSP00000401514:Q2675X	Q	+	1	0	DNAH1	52392523	0.998000	0.40836	1.000000	0.80357	0.203000	0.24098	1.394000	0.34509	2.524000	0.85096	0.655000	0.94253	CAG	DNAH1	-	NULL		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52417483	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAJC11	55735	genome.wustl.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																																	0																																										SO:0001589	frameshift_variant	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E115fs	ENST00000377577.5	37	c.344_343	CCDS87.1	1																																																																																			DNAJC11	-	NULL		0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	TC	NM_018198		6727804	-1	no_errors	ENST00000377577	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
DNMT1	1786	genome.wustl.edu	37	19	10273368	10273368	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:10273368G>A	ENST00000340748.4	-	12	1170	c.935C>T	c.(934-936)tCt>tTt	p.S312F	DNMT1_ENST00000359526.4_Missense_Mutation_p.S328F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S312F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	312	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTTTCATCAGAAATCTGTGG	0.413																																																	0													134.0	133.0	134.0					19																	10273368		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.935C>T	19.37:g.10273368G>A	ENSP00000345739:p.Ser312Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.S328F	ENST00000340748.4	37	c.983	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	g	12.90	2.076515	0.36662	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80909	-1.43;-1.43;-1.43	4.22	4.22	0.49857	.	0.551255	0.18081	N	0.152281	T	0.73481	0.3592	L	0.38175	1.15	0.09310	N	1	P;B;B	0.36315	0.547;0.178;0.412	B;B;B	0.37888	0.26;0.074;0.259	T	0.69217	-0.5203	10	0.59425	D	0.04	.	12.3897	0.55352	0.0:0.0:1.0:0.0	.	312;328;312	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	F	328;312;312;180	ENSP00000352516:S328F;ENSP00000440457:S312F;ENSP00000345739:S312F	ENSP00000345739:S312F	S	-	2	0	DNMT1	10134368	0.367000	0.25023	0.055000	0.19348	0.057000	0.15508	3.543000	0.53633	2.644000	0.89710	0.542000	0.68232	TCT	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.413	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10273368	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	0.064	A
DPP10	57628	genome.wustl.edu	37	2	116257125	116257125	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:116257125T>A	ENST00000410059.1	+	4	791	c.311T>A	c.(310-312)aTt>aAt	p.I104N	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.I54N|DPP10_ENST00000310323.8_Missense_Mutation_p.I97N|DPP10_ENST00000393147.2_Missense_Mutation_p.I108N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	104						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGACATGTCATTAAACTGAAT	0.284																																																	0													136.0	133.0	134.0					2																	116257125		2203	4299	6502	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.311T>A	2.37:g.116257125T>A	ENSP00000386565:p.Ile104Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I108N	ENST00000410059.1	37	c.323	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602975	0.66445	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.2	5.2	0.72013	.	0.242512	0.41001	D	0.000962	T	0.51261	0.1664	L	0.55481	1.735	0.31979	N	0.606154	P;P;P;P	0.44281	0.831;0.612;0.74;0.529	P;B;P;P	0.52267	0.694;0.259;0.498;0.498	T	0.63585	-0.6604	10	0.72032	D	0.01	-42.2693	12.9237	0.58247	0.0:0.0:0.0:1.0	.	97;108;100;104	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	54;104;54;100;108;97;54;54	ENSP00000391092:I54N;ENSP00000386565:I104N;ENSP00000387038:I54N;ENSP00000376854:I100N;ENSP00000376855:I108N;ENSP00000309066:I97N;ENSP00000402499:I54N	ENSP00000309066:I97N	I	+	2	0	DPP10	115973595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.132000	0.64758	2.184000	0.69523	0.459000	0.35465	ATT	DPP10	-	NULL		0.284	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	T	NM_020868		116257125	+1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	1.000	A
DPYSL2	1808	genome.wustl.edu	37	8	26441409	26441409	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr8:26441409C>T	ENST00000311151.5	+	3	635	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R39C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R39C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	75					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CGTCCACACTCGTTTCCAGAT	0.522																																																	0													122.0	115.0	117.0					8																	26441409		2203	4300	6503	SO:0001583	missense	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.223C>T	8.37:g.26441409C>T	ENSP00000309539:p.Arg75Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R75C	ENST00000311151.5	37	c.223	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596862	0.66332	.	.	ENSG00000092964	ENST00000521913;ENST00000493789;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D;D	0.90261	-2.64;-2.14;-2.64;-2.64;-2.64	5.48	5.48	0.80851	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	N	0.11106	0.095	0.80722	D	1	B;B;P	0.36495	0.033;0.33;0.556	B;B;B	0.28305	0.069;0.088;0.088	T	0.81284	-0.1002	10	0.52906	T	0.07	-14.2971	12.8147	0.57658	0.0:0.9261:0.0:0.0739	.	75;75;131	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	C	39;147;75;75;39	ENSP00000427985:R39C;ENSP00000427954:R147C;ENSP00000309539:R75C;ENSP00000428909:R75C;ENSP00000431117:R39C	ENSP00000309539:R75C	R	+	1	0	DPYSL2	26497326	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.933000	0.70130	2.861000	0.98227	0.650000	0.86243	CGT	DPYSL2	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.522	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	C	NM_001386		26441409	+1	no_errors	ENST00000311151	ensembl	human	known	70_37	missense	SNP	1.000	T
DRD3	1814	genome.wustl.edu	37	3	113866346	113866346	+	Silent	SNP	G	G	T	rs141573183		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:113866346G>T	ENST00000460779.1	-	5	731	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	DRD3_ENST00000467632.1_Silent_p.R148R|DRD3_ENST00000383673.2_Silent_p.R148R|DRD3_ENST00000295881.7_Silent_p.R148R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	148					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562																																																	0													118.0	101.0	107.0					3																	113866346		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.442C>A	3.37:g.113866346G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4V5|Q4VBM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.R148	ENST00000460779.1	37	c.442	CCDS2978.1	3																																																																																			DRD3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt		0.562	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	G	NM_000796.3		113866346	-1	no_errors	ENST00000383673	ensembl	human	known	70_37	silent	SNP	0.870	T
EEF1A1	1915	genome.wustl.edu	37	6	74228875	74228875	+	Missense_Mutation	SNP	C	C	T	rs267601114		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:74228875C>T	ENST00000316292.9	-	3	1392	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	EEF1A1_ENST00000309268.6_Missense_Mutation_p.R134Q|EEF1A1_ENST00000331523.2_Missense_Mutation_p.R134Q|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	134	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGCATGCTCTCGGGTCTGCCC	0.463											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17.0	18.0	18.0					6																	74228875		1985	4168	6153	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.401G>A	6.37:g.74228875C>T	ENSP00000339063:p.Arg134Gln	Somatic	1151	WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.R134Q	ENST00000316292.9	37	c.401	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608057	0.66558	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (2);	0.063149	0.64402	U	0.000009	T	0.76630	0.4014	M	0.91818	3.245	0.80722	D	1	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.46479	0.518;0.518;0.518;0.518	D	0.84542	0.0639	10	0.87932	D	0	.	17.4834	0.87680	0.0:1.0:0.0:0.0	.	134;134;134;134	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	Q	134	ENSP00000339063:R134Q;ENSP00000339053:R134Q;ENSP00000330054:R134Q;ENSP00000348651:R134Q	ENSP00000339053:R134Q	R	-	2	0	EEF1A1	74285596	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.784000	0.68990	2.176000	0.68965	0.549000	0.68633	CGA	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.463	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	C	NM_001402		74228875	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	T
EFNA5	1946	genome.wustl.edu	37	5	106716822	106716825	+	3'UTR	DEL	GAAA	GAAA	-			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	GAAA	GAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:106716822_106716825delGAAA	ENST00000333274.6	-	0	1099_1102				EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AATTCAGGCTGAAAGAAAGAAAAC	0.51																																																	0																																										SO:0001624	3_prime_UTR_variant	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.*134TTTC>-	5.37:g.106716830_106716833delGAAA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000333274.6	37	NULL	CCDS4097.1	5																																																																																			EFNA5	-	-		0.510	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	GAAA	NM_001962		106716825	-1	no_errors	ENST00000510359	ensembl	human	known	70_37	rna	DEL	1.000:1.000:1.000:1.000	-
EHD1	10938	genome.wustl.edu	37	11	64645608	64645608	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:64645608G>A	ENST00000320631.3	-	1	583	c.329C>T	c.(328-330)cCg>cTg	p.P110L	EHD1_ENST00000359393.2_Missense_Mutation_p.P110L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	110	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGCGTTGCCCGGCACCACGCC	0.682																																																	0													50.0	43.0	46.0					11																	64645608		2199	4295	6494	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.329C>T	11.37:g.64645608G>A	ENSP00000320516:p.Pro110Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.P110L	ENST00000320631.3	37	c.329	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775509	0.90195	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	3.75	2.8	0.32819	Dynamin, GTPase domain (1);	0.059969	0.64402	D	0.000002	D	0.98356	0.9454	H	0.97829	4.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	D	0.98350	1.0543	10	0.87932	D	0	-42.1454	11.2972	0.49284	0.0:0.1866:0.8133:0.0	.	110;110	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	110;110;86;124;124;110;110	ENSP00000320516:P110L;ENSP00000352354:P110L;ENSP00000404944:P124L;ENSP00000399022:P110L;ENSP00000403830:P110L	ENSP00000320516:P110L	P	-	2	0	EHD1	64402184	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.424000	0.97464	1.129000	0.42072	0.561000	0.74099	CCG	EHD1	-	pfam_Dynamin_GTPase		0.682	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64645608	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	missense	SNP	1.000	A
EHMT1	79813	genome.wustl.edu	37	9	140672487	140672487	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:140672487C>T	ENST00000460843.1	+	13	2199	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	EHMT1_ENST00000334856.6_Silent_p.L693L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.L724L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	724					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGAGCGCTCTCATCGCCCTCG	0.567																																																	0													56.0	61.0	60.0					9																	140672487		2203	4300	6503	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2172C>T	9.37:g.140672487C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L724	ENST00000460843.1	37	c.2172	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140672487	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.986	T
ENPEP	2028	genome.wustl.edu	37	4	111397808	111397808	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:111397808G>A	ENST00000265162.5	+	1	580	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	80					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CATCTGCCCGGCCAGTGAGGA	0.652																																																	0													60.0	64.0	63.0					4																	111397808		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.238G>A	4.37:g.111397808G>A	ENSP00000265162:p.Ala80Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A80T	ENST00000265162.5	37	c.238	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032474	0.19590	.	.	ENSG00000138792	ENST00000265162	T	0.01347	4.99	5.73	4.87	0.63330	.	0.519385	0.21410	N	0.074987	T	0.01870	0.0059	L	0.56769	1.78	0.09310	N	1	B	0.22414	0.069	B	0.19148	0.024	T	0.44847	-0.9301	10	0.23302	T	0.38	.	6.406	0.21664	0.07:0.1327:0.6594:0.1378	.	80	Q07075	AMPE_HUMAN	T	80	ENSP00000265162:A80T	ENSP00000265162:A80T	A	+	1	0	ENPEP	111617257	0.039000	0.19947	0.611000	0.29010	0.065000	0.16274	0.674000	0.25218	1.368000	0.46115	0.491000	0.48974	GCC	ENPEP	-	NULL		0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	G			111397808	+1	no_errors	ENST00000265162	ensembl	human	known	70_37	missense	SNP	0.083	A
RP11-80F22.10	0	genome.wustl.edu	37	16	34682280	34682280	+	RNA	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:34682280C>T	ENST00000568619.1	-	0	199																											TGCCATGTGTCCTTGAAGATG	0.373																																																	0																																												0																															16.37:g.34682280C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568619.1	37	NULL		16																																																																																			RP11-80F22.10	-	-		0.373	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	Clone_based_vega_gene	pseudogene	OTTHUMT00000431371.1	C			34682280	-1	no_errors	ENST00000568619	ensembl	human	known	70_37	rna	SNP	0.985	T
RP11-782C8.2	0	genome.wustl.edu	37	1	143211647	143211647	+	lincRNA	DEL	T	T	-			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:143211647delT	ENST00000412204.2	-	0	0				RP11-782C8.1_ENST00000438000.1_lincRNA																							TTCTTCTCTATTTTTTTGTAC	0.284																																																	0																																												0																															1.37:g.143211647delT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.5	-	-		0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000225278	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	T			143211647	-1	no_errors	ENST00000437865	ensembl	human	known	70_37	rna	DEL	0.128	-
RP11-353N4.5	0	genome.wustl.edu	37	1	149649800	149649800	+	lincRNA	SNP	C	C	A	rs148711404		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:149649800C>A	ENST00000608683.1	-	0	378																											CAGTAAACATCCAGTATTGGG	0.353																																																	0																																												0																															1.37:g.149649800C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000608683.1	37	NULL		1																																																																																			RP11-277L2.2	-	-		0.353	RP11-353N4.5-006	KNOWN	basic	lincRNA	ENSG00000232151	Clone_based_vega_gene	lincRNA	OTTHUMT00000472690.1	C			149649800	+1	no_errors	ENST00000445225	ensembl	human	known	70_37	rna	SNP	0.981	A
ZNRF1	84937	genome.wustl.edu	37	16	75142719	75142719	+	3'UTR	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:75142719C>T	ENST00000335325.4	+	0	2447				RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GGCTGCTACTCGGGGCTCCAG	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.*1121C>T	16.37:g.75142719C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUJ9|Q9H083	RNA	SNP	-	NULL	ENST00000335325.4	37	NULL	CCDS10912.1	16																																																																																			RP11-252E2.1	-	-		0.522	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000247033	Clone_based_vega_gene	protein_coding	OTTHUMT00000269020.2	C			75142719	-1	no_errors	ENST00000499110	ensembl	human	known	70_37	rna	SNP	0.000	T
CAPN1	823	genome.wustl.edu	37	11	64948463	64948463	+	5'Flank	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:64948463C>T	ENST00000527323.1	+	0	0				CAPN1_ENST00000524773.1_5'Flank|CAPN1_ENST00000533129.1_5'Flank|AP003068.23_ENST00000526623.1_Missense_Mutation_p.A179T|CAPN1_ENST00000533820.1_5'Flank|CAPN1_ENST00000279247.6_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGAGAGGGGGCTGCCGTCCTG	0.687																																																	0																																										SO:0001631	upstream_gene_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64948463C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	NULL	p.A179T	ENST00000527323.1	37	c.535	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150589	0.37923	.	.	ENSG00000254614	ENST00000526623	T	0.32023	1.47	2.89	1.96	0.26148	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.19300	N	0.999974	B	0.26195	0.144	B	0.19391	0.025	T	0.21518	-1.0243	8	0.87932	D	0	.	5.7864	0.18336	0.0:0.8485:0.0:0.1515	.	179	E9PK70	.	T	179	ENSP00000435481:A179T	ENSP00000435481:A179T	A	-	1	0	AP003068.23	64705039	0.027000	0.19231	0.002000	0.10522	0.002000	0.02628	3.083000	0.50136	0.763000	0.33175	0.561000	0.74099	GCC	AP003068.23	-	NULL		0.687	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000254614	Clone_based_vega_gene	protein_coding	OTTHUMT00000385325.1	C			64948463	-1	no_errors	ENST00000526623	ensembl	human	putative	70_37	missense	SNP	0.002	T
EP300	2033	genome.wustl.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T
ERVW-1	30816	genome.wustl.edu	37	7	92099233	92099233	+	Missense_Mutation	SNP	G	G	A	rs199552228		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr7:92099233G>A	ENST00000493463.2	-	1	1386	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.H155Y	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	155					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						agggtttcatgtagttttgag	0.478																																																	0													39.0	44.0	42.0					7																	92099233		2203	4298	6501	SO:0001583	missense	30816			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.463C>T	7.37:g.92099233G>A	ENSP00000419945:p.His155Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.H155Y	ENST00000493463.2	37	c.463	CCDS5626.1	7	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063783	0.20067	.	.	ENSG00000242950	ENST00000493463	T	0.17370	2.28	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.12475	0.0303	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.31392	-0.9945	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	155	ENSP00000419945:H155Y	ENSP00000419945:H155Y	H	-	1	0	ERVW-1	91937169	0.358000	0.24947	0.328000	0.25416	0.329000	0.28539	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	CAT	ERVW-1	-	pfam_TLV/ENV_coat_polyprotein		0.478	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVW-1	HGNC	protein_coding	OTTHUMT00000254009.2	G	NM_014590		92099233	-1	no_errors	ENST00000493463	ensembl	human	known	70_37	missense	SNP	0.356	A
FANCD2	2177	genome.wustl.edu	37	3	10107104	10107104	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:10107104C>T	ENST00000419585.1	+	24	2356	c.2195C>T	c.(2194-2196)cCg>cTg	p.P732L	FANCD2_ENST00000383806.1_Missense_Mutation_p.P732L|FANCD2_ENST00000287647.3_Missense_Mutation_p.P732L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P732L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	732					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCTGGCTCCGTATTTCCGG	0.443			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													167.0	164.0	165.0					3																	10107104		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2195C>T	3.37:g.10107104C>T	ENSP00000398754:p.Pro732Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P732L	ENST00000419585.1	37	c.2195	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023383	0.93462	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.53	5.53	0.82687	.	0.151447	0.64402	D	0.000010	T	0.70307	0.3209	M	0.79805	2.47	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.74343	-0.3696	10	0.87932	D	0	.	17.0107	0.86405	0.0:1.0:0.0:0.0	.	732;732	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	732	ENSP00000287647:P732L;ENSP00000373318:P732L;ENSP00000373317:P732L;ENSP00000398754:P732L	ENSP00000287647:P732L	P	+	2	0	FANCD2	10082104	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.263000	0.78421	2.618000	0.88619	0.585000	0.79938	CCG	FANCD2	-	NULL		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	C			10107104	+1	no_errors	ENST00000287647	ensembl	human	known	70_37	missense	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187527264	187527264	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:187527264G>A	ENST00000441802.2	-	17	10519	c.10310C>T	c.(10309-10311)gCg>gTg	p.A3437V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3437	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAAGACGGGCGCGTTGTCATT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													142.0	139.0	140.0					4																	187527264		1995	4180	6175	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10310C>T	4.37:g.187527264G>A	ENSP00000406229:p.Ala3437Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3437V	ENST00000441802.2	37	c.10310	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174078	0.57692	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03181	4.02	5.56	5.56	0.83823	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.231220	0.44285	D	0.000476	T	0.06416	0.0165	M	0.64676	1.99	0.48632	D	0.999687	P	0.40875	0.731	B	0.32289	0.143	T	0.19811	-1.0294	10	0.52906	T	0.07	.	19.5318	0.95232	0.0:0.0:1.0:0.0	.	3437	Q14517	FAT1_HUMAN	V	3437;3439	ENSP00000406229:A3437V	ENSP00000260147:A3439V	A	-	2	0	FAT1	187764258	1.000000	0.71417	0.007000	0.13788	0.012000	0.07955	9.624000	0.98398	2.620000	0.88729	0.462000	0.41574	GCG	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527264	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	0.891	A
FBXO31	79791	genome.wustl.edu	37	16	87376497	87376497	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:87376497C>A	ENST00000311635.7	-	5	730	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	240					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGCCTCCCGCCGGACATCCTG	0.557																																																	0													85.0	66.0	72.0					16																	87376497		2198	4298	6496	SO:0001583	missense	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.718G>T	16.37:g.87376497C>A	ENSP00000310841:p.Gly240Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G240C	ENST00000311635.7	37	c.718	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419143	0.83559	.	.	ENSG00000103264	ENST00000311635	T	0.68765	-0.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76737	-0.2849	10	0.59425	D	0.04	-29.2314	18.518	0.90942	0.0:1.0:0.0:0.0	.	240;132	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	C	240	ENSP00000310841:G240C	ENSP00000310841:G240C	G	-	1	0	FBXO31	85933998	1.000000	0.71417	0.371000	0.25978	0.985000	0.73830	7.617000	0.83032	2.379000	0.81126	0.655000	0.94253	GGC	FBXO31	-	NULL		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	C	NM_024735		87376497	-1	no_errors	ENST00000311635	ensembl	human	known	70_37	missense	SNP	1.000	A
FOXK2	3607	genome.wustl.edu	37	17	80543821	80543821	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:80543821C>T	ENST00000335255.5	+	7	1495	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	441					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACCGTCCAGCGGCAGCTACC	0.562																																																	0													69.0	58.0	62.0					17																	80543821		2197	4288	6485	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1321C>T	17.37:g.80543821C>T	ENSP00000335677:p.Arg441Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.R441W	ENST00000335255.5	37	c.1321	CCDS11813.1	17	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903977	0.72754	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.94046	-3.34	5.19	4.21	0.49690	.	0.057254	0.64402	D	0.000001	D	0.94447	0.8213	L	0.46157	1.445	0.44531	D	0.997487	D;D	0.89917	1.0;0.999	D;D	0.67548	0.952;0.944	D	0.94059	0.7325	10	0.49607	T	0.09	.	12.8223	0.57700	0.417:0.583:0.0:0.0	.	441;441	Q01167;Q01167-2	FOXK2_HUMAN;.	W	437;441	ENSP00000335677:R441W	ENSP00000335677:R441W	R	+	1	2	FOXK2	78137110	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.265000	0.51561	1.402000	0.46780	0.655000	0.94253	CGG	FOXK2	-	NULL		0.562	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	C	NM_181430		80543821	+1	no_errors	ENST00000335255	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXRED2	80020	genome.wustl.edu	37	22	36886250	36886250	+	Silent	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:36886250C>G	ENST00000397224.4	-	9	1953	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	FOXRED2_ENST00000397223.4_Silent_p.L620L|FOXRED2_ENST00000366463.3_Silent_p.L172L|FOXRED2_ENST00000216187.6_Silent_p.L620L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	620					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTGCATCCTCAGGTACCCCT	0.597																																																	0													113.0	116.0	115.0					22																	36886250		2203	4300	6503	SO:0001819	synonymous_variant	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1860G>C	22.37:g.36886250C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.L620	ENST00000397224.4	37	c.1860	CCDS13929.1	22																																																																																			FOXRED2	-	NULL		0.597	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36886250	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	silent	SNP	0.642	G
FSTL5	56884	genome.wustl.edu	37	4	162376269	162376269	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:162376269C>T	ENST00000306100.5	-	15	2164	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	FSTL5_ENST00000379164.4_Silent_p.L575L|FSTL5_ENST00000427802.2_Silent_p.L566L|FSTL5_ENST00000536695.1_Silent_p.L575L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCCACTGGCCAGGGTAATTA	0.398																																																	0													128.0	101.0	110.0					4																	162376269		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1728G>A	4.37:g.162376269C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.L576	ENST00000306100.5	37	c.1728	CCDS3802.1	4																																																																																			FSTL5	-	NULL		0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162376269	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	silent	SNP	1.000	T
GART	2618	genome.wustl.edu	37	21	34878376	34878376	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr21:34878376C>G	ENST00000381831.3	-	19	2751	c.2488G>C	c.(2488-2490)Gaa>Caa	p.E830Q	GART_ENST00000381815.4_Missense_Mutation_p.E830Q|GART_ENST00000381839.3_Missense_Mutation_p.E830Q|GART_ENST00000543717.1_Missense_Mutation_p.E382Q	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	830	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTATTTGGTTCCCGAGTACTG	0.423																																																	0													118.0	108.0	111.0					21																	34878376		2203	4300	6503	SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2488G>C	21.37:g.34878376C>G	ENSP00000371253:p.Glu830Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.E830Q	ENST00000381831.3	37	c.2488	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	C	8.251	0.809015	0.16537	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	6.17	5.28	0.74379	Formyl transferase, N-terminal (3);	0.615715	0.18920	N	0.127519	T	0.58595	0.2133	L	0.28458	0.855	0.19300	N	0.99998	B	0.10296	0.003	B	0.12837	0.008	T	0.46693	-0.9173	10	0.37606	T	0.19	-9.7432	3.988	0.09524	0.1642:0.5796:0.1587:0.0976	.	830	P22102	PUR2_HUMAN	Q	94;830;830;830;382	ENSP00000371236:E830Q;ENSP00000371253:E830Q;ENSP00000371261:E830Q;ENSP00000443579:E382Q	ENSP00000371236:E830Q	E	-	1	0	GART	33800246	0.048000	0.20356	0.012000	0.15200	0.089000	0.18198	0.965000	0.29319	1.586000	0.49944	0.655000	0.94253	GAA	GART	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans		0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	C	NM_000819		34878376	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	missense	SNP	0.004	G
HAS1	3036	genome.wustl.edu	37	19	52217408	52217408	+	Intron	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:52217408C>A	ENST00000222115.1	-	5	1096				HAS1_ENST00000540069.2_Intron|HAS1_ENST00000594621.1_Missense_Mutation_p.C166F|HAS1_ENST00000601714.1_Intron	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGGCCTGGGCAGGATTCTGG	0.597																																					NSCLC(132;636 2450 45807 47979)												0																																										SO:0001627	intron_variant	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1062-53G>T	19.37:g.52217408C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.C166F	ENST00000222115.1	37	c.497	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	c	10.15	1.271053	0.23221	.	.	ENSG00000105509	ENST00000376738	.	.	.	1.9	0.733	0.18289	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36986	-0.9725	5	0.87932	D	0	.	5.9257	0.19110	0.0:0.6662:0.3338:0.0	.	.	.	.	F	166	.	ENSP00000365928:C166F	C	-	2	0	HAS1	56909220	0.000000	0.05858	0.005000	0.12908	0.329000	0.28539	-1.655000	0.01982	0.308000	0.22923	0.174000	0.16983	TGC	HAS1	-	NULL		0.597	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	C	NM_001523		52217408	-1	no_errors	ENST00000594621	ensembl	human	putative	70_37	missense	SNP	0.091	A
HELZ	9931	genome.wustl.edu	37	17	65132235	65132235	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:65132235C>G	ENST00000358691.5	-	23	3199	c.3033G>C	c.(3031-3033)aaG>aaC	p.K1011N	HELZ_ENST00000580168.1_Missense_Mutation_p.K1012N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1011						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTTGCTCTTTCTTTTTAATTG	0.348																																																	0													100.0	100.0	100.0					17																	65132235		1828	4081	5909	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3033G>C	17.37:g.65132235C>G	ENSP00000351524:p.Lys1011Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K1011N	ENST00000358691.5	37	c.3033	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468057	0.26335	.	.	ENSG00000198265	ENST00000358691	D	0.83163	-1.69	4.94	4.94	0.65067	.	0.047589	0.85682	D	0.000000	T	0.75398	0.3844	N	0.20986	0.625	0.41002	D	0.984933	P;B	0.48589	0.912;0.022	B;B	0.41135	0.348;0.018	T	0.79191	-0.1905	10	0.46703	T	0.11	-17.7335	18.5448	0.91042	0.0:1.0:0.0:0.0	.	1012;1011	B7ZLW2;P42694	.;HELZ_HUMAN	N	1011	ENSP00000351524:K1011N	ENSP00000351524:K1011N	K	-	3	2	HELZ	62562697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.828000	0.39111	2.447000	0.82792	0.591000	0.81541	AAG	HELZ	-	NULL		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	C	NM_014877		65132235	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	G
HEXDC	284004	genome.wustl.edu	37	17	80393586	80393586	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:80393586G>A	ENST00000327949.9	+	5	480	c.469G>A	c.(469-471)Gag>Aag	p.E157K	HEXDC_ENST00000577944.1_Missense_Mutation_p.E157K|HEXDC_ENST00000337014.6_Missense_Mutation_p.E157K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	157					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGAGAGGGGGAGGCCTCGCG	0.687																																																	0													45.0	54.0	51.0					17																	80393586		1981	4151	6132	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.469G>A	17.37:g.80393586G>A	ENSP00000332634:p.Glu157Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.E157K	ENST00000327949.9	37	c.469		17	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597613	0.28445	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.95656	-3.77;-3.77	5.72	5.72	0.89469	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.160994	0.56097	D	0.000030	D	0.91606	0.7348	L	0.41573	1.285	0.38931	D	0.957942	P;B	0.45240	0.854;0.113	B;B	0.42112	0.376;0.113	D	0.89566	0.3810	10	0.10111	T	0.7	-43.3631	12.2155	0.54404	0.0772:0.0:0.9228:0.0	.	157;157	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	K	157	ENSP00000337854:E157K;ENSP00000332634:E157K	ENSP00000332634:E157K	E	+	1	0	HEXDC	77986875	1.000000	0.71417	0.841000	0.33234	0.118000	0.20060	3.692000	0.54727	2.684000	0.91462	0.563000	0.77884	GAG	HEXDC	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.687	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	G	NM_173620		80393586	+1	no_errors	ENST00000337014	ensembl	human	known	70_37	missense	SNP	0.918	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424293	22424293	+	RNA	SNP	C	C	G	rs141464414	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:22424293C>G	ENST00000451497.1	+	0	858									high mobility group box 1 pseudogene 5																		GCAGCTTATACGAAATAATTG	0.333																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424293C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	C	NG_000897		22424293	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	0.996	G
HSPE1	3336	genome.wustl.edu	37	2	198365389	198365389	+	Intron	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:198365389C>G	ENST00000233893.5	+	1	446				HSPE1_ENST00000409468.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000544407.1_5'Flank|HSPE1_ENST00000409729.1_Intron|HSPD1_ENST00000388968.3_5'Flank|HSPD1_ENST00000345042.2_5'Flank|HSPE1-MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			GGCGAGAACCCGGGCGCACGC	0.632																																																	0																																										SO:0001627	intron_variant	3336			AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.3+226C>G	2.37:g.198365389C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95421|Q04984|Q53X54|Q9UDH0	RNA	SNP	-	NULL	ENST00000233893.5	37	NULL	CCDS2320.1	2																																																																																			HSPE1	-	-		0.632	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPE1	HGNC	protein_coding	OTTHUMT00000256112.1	C	NM_002157		198365389	+1	no_errors	ENST00000465573	ensembl	human	known	70_37	rna	SNP	0.000	G
KIAA1462	57608	genome.wustl.edu	37	10	30316447	30316447	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:30316447T>C	ENST00000375377.1	-	3	2731	c.2630A>G	c.(2629-2631)gAg>gGg	p.E877G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	877					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCCACATCCTCCTGTCTGCA	0.617																																																	0													65.0	70.0	68.0					10																	30316447		2130	4257	6387	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2630A>G	10.37:g.30316447T>C	ENSP00000364526:p.Glu877Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E877G	ENST00000375377.1	37	c.2630	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676296	0.29783	.	.	ENSG00000165757	ENST00000375377	T	0.12465	2.68	5.44	-4.2	0.03823	.	2.144660	0.01841	N	0.035352	T	0.04679	0.0127	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36286	-0.9754	10	0.27785	T	0.31	-8.0E-4	9.0066	0.36115	0.0:0.5093:0.2511:0.2397	.	877	Q9P266	K1462_HUMAN	G	877	ENSP00000364526:E877G	ENSP00000364526:E877G	E	-	2	0	KIAA1462	30356453	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.143000	0.10296	-0.828000	0.04273	-0.363000	0.07495	GAG	KIAA1462	-	NULL		0.617	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	T	NM_020848		30316447	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	C
HTRA1	5654	genome.wustl.edu	37	10	124266386	124266386	+	Silent	SNP	C	C	T	rs373287445		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:124266386C>T	ENST00000368984.3	+	4	1085	c.957C>T	c.(955-957)acC>acT	p.T319T		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	319	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACATCCAGACCGACGCCATCA	0.592																																																	0								C		0,4406		0,0,2203	77.0	54.0	62.0		957	-10.5	0.1	10		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HTRA1	NM_002775.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		319/481	124266386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5654			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.957C>T	10.37:g.124266386C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRE4|Q9UNS5	Silent	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ	p.T319	ENST00000368984.3	37	c.957	CCDS7630.1	10																																																																																			HTRA1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,prints_Peptidase_S1C		0.592	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	C	NM_002775		124266386	+1	no_errors	ENST00000368984	ensembl	human	known	70_37	silent	SNP	0.003	T
L1CAM	3897	genome.wustl.edu	37	X	153132162	153132162	+	Silent	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:153132162G>T	ENST00000370060.1	-	19	2562	c.2373C>A	c.(2371-2373)gtC>gtA	p.V791V	L1CAM_ENST00000361699.4_Silent_p.V791V|L1CAM_ENST00000361981.3_Silent_p.V786V|L1CAM_ENST00000538883.1_Silent_p.V793V|L1CAM_ENST00000543994.1_Silent_p.V793V|L1CAM_ENST00000370055.1_Silent_p.V786V|L1CAM_ENST00000370057.3_Silent_p.V791V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	791	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					CCTGGCTGTTGACGGCCTGGA	0.632																																																	0													121.0	96.0	104.0					X																	153132162		2203	4300	6503	SO:0001819	synonymous_variant	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.2373C>A	X.37:g.153132162G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	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.V793	ENST00000370060.1	37	c.2379	CCDS14733.1	X																																																																																			L1CAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153132162	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	silent	SNP	1.000	T
LAMA4	3910	genome.wustl.edu	37	6	112575244	112575244	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:112575244C>T	ENST00000230538.7	-	2	506	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000587816.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000431543.2_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E37K|LAMA4_ENST00000453937.2_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000585504.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	37					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGCTCCCTTCAATGTCAAAA	0.677																																																	0													15.0	15.0	15.0					6																	112575244		2198	4296	6494	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.109G>A	6.37:g.112575244C>T	ENSP00000230538:p.Glu37Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E37K	ENST00000230538.7	37	c.109	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186310	0.78789	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543;ENST00000243219;ENST00000521690;ENST00000368638;ENST00000453937;ENST00000455073	T;T;T;T;T;T;T	0.57907	2.59;2.57;2.57;2.57;1.61;0.76;0.37	4.43	4.43	0.53597	.	0.000000	0.38897	N	0.001521	T	0.47395	0.1443	N	0.19112	0.55	0.33262	D	0.559867	D;D;D;D	0.89917	1.0;1.0;0.993;0.996	D;D;D;D	0.91635	0.999;0.996;0.956;0.981	T	0.51849	-0.8653	10	0.40728	T	0.16	.	15.6098	0.76707	0.0:1.0:0.0:0.0	.	37;37;37;37	Q16363-3;Q6LET9;Q16363;Q16363-2	.;.;LAMA4_HUMAN;.	K	37	ENSP00000230538:E37K;ENSP00000429488:E37K;ENSP00000374114:E37K;ENSP00000416470:E37K;ENSP00000430336:E37K;ENSP00000428583:E37K;ENSP00000412136:E37K	ENSP00000230538:E37K	E	-	1	0	LAMA4	112681937	1.000000	0.71417	0.969000	0.41365	0.396000	0.30629	4.549000	0.60726	2.192000	0.70111	0.313000	0.20887	GAA	LAMA4	-	NULL		0.677	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112575244	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	missense	SNP	1.000	T
LAMA2	3908	genome.wustl.edu	37	6	129762061	129762061	+	Silent	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:129762061C>G	ENST00000421865.2	+	43	6235	c.6186C>G	c.(6184-6186)ctC>ctG	p.L2062L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2062	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2062L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCAGAACCTCGATGGCCTGA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											115.0	102.0	106.0					6																	129762061		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6186C>G	6.37:g.129762061C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2062	ENST00000421865.2	37	c.6186	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_II		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129762061	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.000	G
LARP1	23367	genome.wustl.edu	37	5	154181657	154181657	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:154181657G>C	ENST00000336314.4	+	11	1600	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	603					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATGAGCAAGAGGAACTGGA	0.502																																																	0													133.0	127.0	129.0					5																	154181657		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1576G>C	5.37:g.154181657G>C	ENSP00000336721:p.Glu526Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E526Q	ENST00000336314.4	37	c.1576	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.162140	0.94727	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.41400	1.56;1.0;1.04	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71852	-0.4467	10	0.54805	T	0.06	-19.996	20.5211	0.99222	0.0:0.0:1.0:0.0	.	603;526	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	526;603;398	ENSP00000336721:E526Q;ENSP00000428589:E603Q;ENSP00000429904:E398Q	ENSP00000336721:E526Q	E	+	1	0	LARP1	154161850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.861000	0.98227	0.650000	0.86243	GAG	LARP1	-	NULL		0.502	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154181657	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C
LMBR1L	55716	genome.wustl.edu	37	12	49504417	49504417	+	5'UTR	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:49504417C>A	ENST00000267102.8	-	0	264				LMBR1L_ENST00000547382.1_5'UTR|LMBR1L_ENST00000553204.1_5'UTR	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like						endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCCGCCAAGCACCCAGACCC	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.-79G>T	12.37:g.49504417C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	RNA	SNP	-	NULL	ENST00000267102.8	37	NULL	CCDS8780.2	12																																																																																			LMBR1L	-	-		0.657	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	C	NM_018113		49504417	-1	no_errors	ENST00000548983	ensembl	human	known	70_37	rna	SNP	0.787	A
LMTK3	114783	genome.wustl.edu	37	19	49000803	49000803	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:49000803C>T	ENST00000600059.1	-	11	3750	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1204K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1175	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCTCTCCCTCGGGGGCCACC	0.776																																																	0													7.0	9.0	8.0					19																	49000803		1794	3963	5757	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3523G>A	19.37:g.49000803C>T	ENSP00000472020:p.Glu1175Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1204K	ENST00000600059.1	37	c.3610		19	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755032	0.31046	.	.	ENSG00000142235	ENST00000270238	T	0.78481	-1.18	3.67	3.67	0.42095	.	0.200508	0.30060	N	0.010520	T	0.53626	0.1808	N	0.19112	0.55	0.25218	N	0.989925	P	0.44195	0.828	B	0.25140	0.058	T	0.54248	-0.8322	10	0.40728	T	0.16	.	9.345	0.38102	0.0:0.7799:0.22:0.0	.	1175	Q96Q04	LMTK3_HUMAN	K	1204	ENSP00000270238:E1204K	ENSP00000270238:E1204K	E	-	1	0	LMTK3	53692615	0.903000	0.30736	0.982000	0.44146	0.065000	0.16274	0.769000	0.26604	2.063000	0.61619	0.462000	0.41574	GAG	LMTK3	-	smart_Ser/Thr_dual-sp_kinase_dom		0.776	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	C	NM_052895		49000803	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	0.993	T
MOCS2	4338	genome.wustl.edu	37	5	52405689	52405689	+	Intron	SNP	C	C	T	rs34067702		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:52405689C>T	ENST00000527216.1	-	1	79				MOCS2_ENST00000450852.3_5'Flank|MOCS2_ENST00000582677.1_5'Flank|MOCS2_ENST00000361377.4_5'Flank|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000508922.1_5'Flank|MOCS2_ENST00000510818.2_5'Flank|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000584946.1_5'Flank|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000396954.3_5'Flank					molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CAACCAGCTCCGCCCCGCGCC	0.687																																																	0																																										SO:0001627	intron_variant	257396			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000527216.1:c.3+125G>A	5.37:g.52405689C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527216.1	37	NULL		5																																																																																			CTD-2366F13.1	-	-		0.687	MOCS2-008	PUTATIVE	alternative_5_UTR|NMD_exception|basic	protein_coding	LOC257396	Clone_based_vega_gene	protein_coding	OTTHUMT00000387259.2	C	NM_183418		52405689	+1	no_errors	ENST00000502171	ensembl	human	known	70_37	rna	SNP	0.021	T
AC011718.2	0	genome.wustl.edu	37	22	20640623	20640623	+	lincRNA	SNP	C	C	T	rs569018769		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:20640623C>T	ENST00000577456.1	-	0	937																											GTGCCTTGTACGGTGTCATTA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		25370	0.0		0.001	False		,,,				2504	0.0																0																																												729461																															22.37:g.20640623C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-		0.488	AC011718.2-004	KNOWN	basic	lincRNA	LOC729461	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	C			20640623	-1	no_errors	ENST00000577456	ensembl	human	known	70_37	rna	SNP	0.997	T
LPHN3	23284	genome.wustl.edu	37	4	62598964	62598964	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:62598964G>A	ENST00000514591.1	+	7	1216	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	LPHN3_ENST00000512091.2_Missense_Mutation_p.R296Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R364Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	296	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACACCCTACGGATCGAAGGA	0.388																																																	0													105.0	92.0	96.0					4																	62598964		1900	4130	6030	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.887G>A	4.37:g.62598964G>A	ENSP00000422533:p.Arg296Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R364Q	ENST00000514591.1	37	c.1091	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992061	0.74703	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	L	0.37750	1.13	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.80764	0.994;0.994;0.964	D	0.92891	0.6331	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	296;364;296	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Q	296;296;364;364;296;296;296;296;296;364;364;364;296;296;296;364;364;296	ENSP00000423388:R296Q;ENSP00000422533:R296Q;ENSP00000423787:R364Q;ENSP00000425033:R364Q;ENSP00000424120:R296Q;ENSP00000439831:R296Q;ENSP00000421476:R364Q;ENSP00000424030:R364Q;ENSP00000421372:R364Q;ENSP00000425201:R296Q;ENSP00000423434:R296Q;ENSP00000421627:R296Q;ENSP00000420931:R364Q;ENSP00000425884:R364Q;ENSP00000424258:R296Q	ENSP00000280009:R296Q	R	+	2	0	LPHN3	62281559	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.062000	0.89475	2.471000	0.83476	0.557000	0.71058	CGG	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62598964	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC37A6P	387646	genome.wustl.edu	37	10	27538702	27538702	+	lincRNA	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:27538702T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCCTGCATGGTTGGAGAAAGT	0.473																																																	0													96.0	85.0	88.0					10																	27538702		692	1591	2283			387646																															10.37:g.27538702T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.473	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	T			27538702	-1	no_errors	ENST00000284414	ensembl	human	known	70_37	rna	SNP	0.003	C
MAPKAP1	79109	genome.wustl.edu	37	9	128327727	128327728	+	Intron	INS	-	-	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:128327727_128327728insT	ENST00000373498.1	-	5	740				MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000265960.3_Intron|RP11-12A16.3_ENST00000437097.1_RNA|MAPKAP1_ENST00000394060.3_Intron|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000373497.5_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AATGCTTATTGTTTTTTTTTTA	0.292																																																	0																																										SO:0001627	intron_variant	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.672-5639->A	9.37:g.128327737_128327737dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	RNA	INS	-	NULL	ENST00000373498.1	37	NULL	CCDS35140.1	9																																																																																			MAPKAP1	-	-		0.292	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	-			128327728	-1	no_errors	ENST00000448439	ensembl	human	known	70_37	rna	INS	0.000:0.003	T
MGA	23269	genome.wustl.edu	37	15	42058491	42058491	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:42058491G>C	ENST00000570161.1	+	23	8211	c.8211G>C	c.(8209-8211)caG>caC	p.Q2737H	MGA_ENST00000389936.4_Missense_Mutation_p.Q2698H|MGA_ENST00000566586.1_Missense_Mutation_p.Q2528H|MGA_ENST00000545763.1_Missense_Mutation_p.Q2528H|MGA_ENST00000219905.7_Missense_Mutation_p.Q2737H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAATATGCAGAAAGCACAAG	0.413																																																	0													48.0	45.0	46.0					15																	42058491		1840	4094	5934	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8211G>C	15.37:g.42058491G>C	ENSP00000457035:p.Gln2737His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.Q2737H	ENST00000570161.1	37	c.8211	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231066	0.58777	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85629	-1.98;-2.01;-2.01	5.37	1.16	0.20824	.	2.116450	0.02186	N	0.060899	D	0.82701	0.5094	N	0.19112	0.55	0.22675	N	0.998865	P;P	0.48016	0.904;0.845	P;P	0.51135	0.66;0.459	T	0.70270	-0.4918	10	0.87932	D	0	.	7.2958	0.26393	0.3888:0.0:0.6112:0.0	.	2528;2737	F5H7K2;E7ENI0	.;.	H	2737;2698;2528	ENSP00000219905:Q2737H;ENSP00000374586:Q2698H;ENSP00000442467:Q2528H	ENSP00000219905:Q2737H	Q	+	3	2	MGA	39845783	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	1.162000	0.31786	0.037000	0.15575	0.650000	0.86243	CAG	MGA	-	NULL		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058491	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.985	C
MGRN1	23295	genome.wustl.edu	37	16	4700414	4700414	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:4700414C>A	ENST00000399577.5	+	2	230	c.137C>A	c.(136-138)aCc>aAc	p.T46N	MGRN1_ENST00000586183.1_Missense_Mutation_p.T46N|MGRN1_ENST00000262370.7_Missense_Mutation_p.T46N|MGRN1_ENST00000588994.1_Missense_Mutation_p.T46N|MGRN1_ENST00000415496.1_Missense_Mutation_p.T46N	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AAATTCGACACCCCCCACCCT	0.468																																																	0													91.0	96.0	94.0					16																	4700414		1877	4115	5992	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.137C>A	16.37:g.4700414C>A	ENSP00000382487:p.Thr46Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.T46N	ENST00000399577.5	37	c.137	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694347	0.88830	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.01	5.01	0.66863	.	0.047511	0.85682	D	0.000000	T	0.56187	0.1968	M	0.73598	2.24	0.80722	D	1	D;D;P;P;D;D	0.76494	0.999;0.968;0.615;0.945;0.991;0.999	D;P;B;P;D;D	0.91635	0.999;0.889;0.266;0.778;0.948;0.997	T	0.59150	-0.7508	10	0.54805	T	0.06	-45.1821	15.8117	0.78571	0.0:1.0:0.0:0.0	.	46;46;46;46;46;46	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	N	46	ENSP00000262370:T46N;ENSP00000382487:T46N;ENSP00000393311:T46N;ENSP00000443810:T46N	ENSP00000262370:T46N	T	+	2	0	MGRN1	4640415	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.754000	0.85163	2.323000	0.78572	0.555000	0.69702	ACC	MGRN1	-	NULL		0.468	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4700414	+1	no_errors	ENST00000262370	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXW7	55294	genome.wustl.edu	37	4	153410533	153410533	+	Intron	SNP	A	A	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:153410533A>G	ENST00000281708.4	-	1	1161				FBXW7_ENST00000603548.1_Intron|MIR3140_ENST00000583685.1_RNA|FBXW7_ENST00000604872.1_Intron	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTTCAGAATACATAAAGCTT	0.358			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0																																										SO:0001627	intron_variant	100422896			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.68+45559T>C	4.37:g.153410533A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	RNA	SNP	-	NULL	ENST00000281708.4	37	NULL	CCDS3777.1	4																																																																																			MIR3140	-	-		0.358	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3140	HGNC	protein_coding	OTTHUMT00000469956.1	A			153410533	-1	no_errors	ENST00000583685	ensembl	human	known	70_37	rna	SNP	0.000	G
MKL1	57591	genome.wustl.edu	37	22	40915231	40915231	+	Intron	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:40915231G>A	ENST00000355630.3	-	3	532				MKL1_ENST00000396617.3_Intron|RP4-591N18.2_ENST00000417123.1_RNA|MKL1_ENST00000466278.1_5'Flank|MKL1_ENST00000402042.1_Intron	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AACTACCCCTGAGTTTAGGCT	0.408			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0																																										SO:0001627	intron_variant	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.58+32878C>T	22.37:g.40915231G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	RNA	SNP	-	NULL	ENST00000355630.3	37	NULL	CCDS14003.1	22																																																																																			MKL1	-	-		0.408	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	G	NM_020831		40915231	-1	no_errors	ENST00000463769	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2A	4297	genome.wustl.edu	37	11	118342900	118342900	+	Silent	SNP	A	A	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:118342900A>G	ENST00000389506.5	+	3	1026	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	KMT2A_ENST00000534358.1_Silent_p.K342K|KMT2A_ENST00000354520.4_Silent_p.K342K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	342					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CACTTACAAAAGAAGATAAGA	0.433																																																	0													67.0	72.0	71.0					11																	118342900		2198	4296	6494	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1026A>G	11.37:g.118342900A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.K342	ENST00000389506.5	37	c.1026	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	A	NM_005933		118342900	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	silent	SNP	0.912	G
MMP20	9313	genome.wustl.edu	37	11	102447981	102447981	+	3'UTR	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:102447981C>A	ENST00000260228.2	-	0	1540					NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20						hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CTCCTACATTCTGCTTTAGTC	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.*76G>T	11.37:g.102447981C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUA8|Q9H3Q0	RNA	SNP	-	NULL	ENST00000260228.2	37	NULL	CCDS8318.1	11																																																																																			MMP20	-	-		0.353	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	C			102447981	-1	no_errors	ENST00000542305	ensembl	human	known	70_37	rna	SNP	0.001	A
KMT2A	4297	genome.wustl.edu	37	11	118376933	118376933	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:118376933C>T	ENST00000389506.5	+	27	10317	c.10317C>T	c.(10315-10317)gcC>gcT	p.A3439A	KMT2A_ENST00000534358.1_Silent_p.A3442A|KMT2A_ENST00000354520.4_Silent_p.A3401A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3439					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCATAACAGCCGCTTCACCTT	0.532																																																	0													96.0	84.0	88.0					11																	118376933		2200	4295	6495	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10317C>T	11.37:g.118376933C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A3439	ENST00000389506.5	37	c.10317	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.532	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118376933	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	silent	SNP	0.029	T
MUC16	94025	genome.wustl.edu	37	19	9043453	9043453	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:9043453G>T	ENST00000397910.4	-	6	36279	c.36076C>A	c.(36076-36078)Cat>Aat	p.H12026N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12028	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGACCGATGGTTATAACCT	0.512																																																	0													65.0	66.0	66.0					19																	9043453		1948	4122	6070	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36076C>A	19.37:g.9043453G>T	ENSP00000381008:p.His12026Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H12026N	ENST00000397910.4	37	c.36076	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.825	-0.747423	0.03065	.	.	ENSG00000181143	ENST00000397910	T	0.01963	4.53	2.98	0.743	0.18347	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	.	.	.	D	0.54964	0.969	P	0.52758	0.708	T	0.48822	-0.9001	8	0.87932	D	0	.	5.4881	0.16761	0.2714:0.0:0.7286:0.0	.	12026	B5ME49	.	N	12026	ENSP00000381008:H12026N	ENSP00000381008:H12026N	H	-	1	0	MUC16	8904453	0.491000	0.26019	0.752000	0.31206	0.068000	0.16541	0.236000	0.17967	0.317000	0.23160	0.389000	0.25775	CAT	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9043453	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.782	T
MUC2	4583	genome.wustl.edu	37	11	1092219	1092219	+	Silent	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:1092219C>G	ENST00000441003.2	+	30	4065	c.4038C>G	c.(4036-4038)ctC>ctG	p.L1346L	MUC2_ENST00000359061.5_Silent_p.L1347L|MUC2_ENST00000361558.6_Silent_p.L12L|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1346					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATCCCCACCTCAGCTTGGAGC	0.552																																																	0													123.0	132.0	129.0					11																	1092219		2151	4242	6393	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4038C>G	11.37:g.1092219C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L1346	ENST00000441003.2	37	c.4038		11																																																																																			MUC2	-	NULL		0.552	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	C	NM_002457		1092219	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.000	G
NETO1	81832	genome.wustl.edu	37	18	70461384	70461384	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:70461384T>C	ENST00000327305.6	-	6	1264	c.607A>G	c.(607-609)Aag>Gag	p.K203E	NETO1_ENST00000583169.1_Missense_Mutation_p.K203E|NETO1_ENST00000299430.2_Missense_Mutation_p.K202E	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	203	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTACCACTTGCAATCAACA	0.463																																																	0													211.0	180.0	190.0					18																	70461384		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.607A>G	18.37:g.70461384T>C	ENSP00000313088:p.Lys203Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.K203E	ENST00000327305.6	37	c.607	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685801	0.68157	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.30714	1.52;1.52	5.29	5.29	0.74685	CUB (5);	0.000000	0.64402	D	0.000006	T	0.47002	0.1422	L	0.40543	1.245	0.80722	D	1	D;B	0.67145	0.996;0.272	D;B	0.76071	0.987;0.143	T	0.44081	-0.9351	10	0.56958	D	0.05	-12.2207	15.2261	0.73352	0.0:0.0:0.0:1.0	.	202;203	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	E	203;202	ENSP00000313088:K203E;ENSP00000299430:K202E	ENSP00000299430:K202E	K	-	1	0	NETO1	68612364	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.698000	0.84413	1.993000	0.58246	0.533000	0.62120	AAG	NETO1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	T	NM_138999		70461384	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	C
NFE2L2	4780	genome.wustl.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:178098944C>T	ENST00000397062.3	-	2	655	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	12	Substitution - Missense(12)	lung(12)											77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>A	2.37:g.178098944C>T	ENSP00000380252:p.Arg34Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R34Q	ENST00000397062.3	37	c.101	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869837	0.91587	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.997;0.998	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	18;34;18;18;18;18;18	ENSP00000380253:R18Q;ENSP00000380252:R34Q;ENSP00000411575:R18Q;ENSP00000391590:R18Q;ENSP00000400073:R18Q;ENSP00000412191:R18Q;ENSP00000410015:R18Q	ENSP00000380252:R34Q	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA	NFE2L2	-	NULL		0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098944	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	T
NPTXR	23467	genome.wustl.edu	37	22	39219171	39219171	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:39219171C>T	ENST00000333039.2	-	4	1318	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	399	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGCTCCCCGTCCTGGTAG	0.627																																					Pancreas(139;2521 3281 36965)												0													90.0	75.0	80.0					22																	39219171		2203	4300	6503	SO:0001583	missense	23467			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1195G>A	22.37:g.39219171C>T	ENSP00000327545:p.Gly399Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G399R	ENST00000333039.2	37	c.1195	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773699	0.90108	.	.	ENSG00000221890	ENST00000333039	T	0.79845	-1.31	4.16	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.059834	0.64402	D	0.000003	D	0.90752	0.7097	M	0.86420	2.815	0.36941	D	0.892371	D	0.89917	1.0	D	0.97110	1.0	D	0.92748	0.6213	9	0.87932	D	0	-38.0557	17.0244	0.86441	0.0:1.0:0.0:0.0	.	399	O95502	NPTXR_HUMAN	R	399	ENSP00000327545:G399R	ENSP00000327545:G399R	G	-	1	0	NPTXR	37549117	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.642000	0.83385	2.307000	0.77673	0.558000	0.71614	GGG	NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.627	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	C	NM_014293		39219171	-1	no_errors	ENST00000333039	ensembl	human	known	70_37	missense	SNP	1.000	T
OR8K3	219473	genome.wustl.edu	37	11	56086680	56086681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:56086680_56086681insA	ENST00000312711.1	+	1	898_899	c.898_899insA	c.(898-900)ctafs	p.L300fs		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AAAATATGCCCTACGAAGGACA	0.327																																																	0																																										SO:0001589	frameshift_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	Exception_encountered	11.37:g.56086680_56086681insA	ENSP00000323555:p.Leu300fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFC4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L300fs	ENST00000312711.1	37	c.898_899	CCDS31527.1	11																																																																																			OR8K3	-	NULL		0.327	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	NM_001005202		56086681	+1	no_errors	ENST00000312711	ensembl	human	known	70_37	frame_shift_ins	INS	0.004:0.022	A
OR10W1	81341	genome.wustl.edu	37	11	58034737	58034737	+	Silent	SNP	A	A	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:58034737A>G	ENST00000395079.2	-	1	995	c.594T>C	c.(592-594)atT>atC	p.I198I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAGGCACAGCAATGGCTAGTA	0.537																																																	0													104.0	86.0	92.0					11																	58034737		2201	4295	6496	SO:0001819	synonymous_variant	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.594T>C	11.37:g.58034737A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I198	ENST00000395079.2	37	c.594	CCDS7968.1	11																																																																																			OR10W1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	HGNC	protein_coding	OTTHUMT00000394704.1	A	NM_207374		58034737	-1	no_errors	ENST00000395079	ensembl	human	known	70_37	silent	SNP	0.001	G
PALM3	342979	genome.wustl.edu	37	19	14167476	14167476	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:14167476G>C	ENST00000340790.4	-	3	266	c.267C>G	c.(265-267)ttC>ttG	p.F89L		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	89					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						CCACTCACGTGAACAAACTGT	0.617																																																	0													83.0	90.0	88.0					19																	14167476		692	1591	2283	SO:0001583	missense	342979				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.267C>G	19.37:g.14167476G>C	ENSP00000344996:p.Phe89Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.F89L	ENST00000340790.4	37	c.267	CCDS46001.1	19	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763445	0.69763	.	.	ENSG00000187867	ENST00000340790	T	0.31510	1.49	4.59	3.54	0.40534	.	.	.	.	.	T	0.42268	0.1195	L	0.43152	1.355	0.26880	N	0.967552	D	0.76494	0.999	D	0.80764	0.994	T	0.15350	-1.0440	9	0.30078	T	0.28	.	7.8574	0.29491	0.1213:0.0:0.8787:0.0	.	89	A6NDB9	PALM3_HUMAN	L	89	ENSP00000344996:F89L	ENSP00000344996:F89L	F	-	3	2	PALM3	14028476	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.495000	0.53280	0.886000	0.36113	0.561000	0.74099	TTC	PALM3	-	NULL		0.617	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM3	HGNC	protein_coding	OTTHUMT00000458540.1	G	NM_001145028		14167476	-1	no_errors	ENST00000340790	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHA1	56147	genome.wustl.edu	37	5	140166014	140166014	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140166014C>T	ENST00000504120.2	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R47C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R47C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTTGGCCGCGTTGCTCA	0.627																																																	0													50.0	56.0	54.0					5																	140166014		2203	4300	6503	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.139C>T	5.37:g.140166014C>T	ENSP00000420840:p.Arg47Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R47C	ENST00000504120.2	37	c.139	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812274	0.50527	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.28069	1.63;1.63;1.63	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43110	U	0.000605	T	0.59851	0.2224	M	0.88979	2.995	0.37954	D	0.932752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.982	T	0.70988	-0.4722	10	0.87932	D	0	.	12.0541	0.53524	0.2913:0.7087:0.0:0.0	.	47;47;47	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	C	47	ENSP00000420840:R47C;ENSP00000378129:R47C;ENSP00000367373:R47C	ENSP00000367373:R47C	R	+	1	0	PCDHA1	140146198	0.005000	0.15991	1.000000	0.80357	0.500000	0.33767	1.061000	0.30542	2.246000	0.74042	0.650000	0.86243	CGC	PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140166014	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHGA2	56113	genome.wustl.edu	37	5	140720771	140720771	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140720771G>A	ENST00000394576.2	+	1	2233	c.2233G>A	c.(2233-2235)Ggg>Agg	p.G745R	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	745					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTGGACGGGGTTCGGGC	0.637																																																	0													73.0	77.0	75.0					5																	140720771		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2233G>A	5.37:g.140720771G>A	ENSP00000378077:p.Gly745Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G745R	ENST00000394576.2	37	c.2233	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072478	0.55646	.	.	ENSG00000081853	ENST00000394576	T	0.54675	0.56	5.39	5.39	0.77823	.	0.000000	0.41712	U	0.000830	T	0.71929	0.3398	M	0.94063	3.49	0.33089	D	0.537739	D;P	0.54601	0.967;0.875	P;B	0.52793	0.709;0.308	D	0.84699	0.0727	10	0.72032	D	0.01	.	12.1649	0.54125	0.0792:0.0:0.9208:0.0	.	745;745	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	R	745	ENSP00000378077:G745R	ENSP00000378077:G745R	G	+	1	0	PCDHGA2	140700955	1.000000	0.71417	0.959000	0.39883	0.009000	0.06853	3.229000	0.51278	2.536000	0.85505	0.491000	0.48974	GGG	PCDHGA2	-	NULL		0.637	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720771	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.987	A
PCDHGB7	56099	genome.wustl.edu	37	5	140797447	140797447	+	Silent	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140797447G>A	ENST00000398594.2	+	1	21	c.21G>A	c.(19-21)caG>caA	p.Q7Q	PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCGCGCAGAggcgccggg	0.627											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12.0	14.0	14.0					5																	140797447		1791	3974	5765	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.21G>A	5.37:g.140797447G>A		Somatic	1659	WXS	Illumina HiSeq	Phase_IV	Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q7	ENST00000398594.2	37	c.21	CCDS47293.1	5																																																																																			PCDHGB7	-	NULL		0.627	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	G	NM_018927		140797447	+1	no_errors	ENST00000398594	ensembl	human	known	70_37	silent	SNP	0.735	A
PFDN4	5203	genome.wustl.edu	37	20	52835609	52835609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr20:52835609C>T	ENST00000371419.2	+	4	579	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	109					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GGAATCAATTCAGCGAGTGTT	0.299																																																	0													42.0	42.0	42.0					20																	52835609		2199	4299	6498	SO:0001587	stop_gained	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.325C>T	20.37:g.52835609C>T	ENSP00000360473:p.Gln109*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TD11|Q92779	Nonsense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4	p.Q109*	ENST00000371419.2	37	c.325	CCDS13445.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018430	0.75275	.	.	ENSG00000101132	ENST00000371419	.	.	.	5.58	5.58	0.84498	.	0.054000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.7836	18.9044	0.92454	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000360473:Q109X	Q	+	1	0	PFDN4	52269016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.328000	0.59253	2.786000	0.95864	0.655000	0.94253	CAG	PFDN4	-	pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4		0.299	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN4	HGNC	protein_coding	OTTHUMT00000079771.2	C	NM_002623		52835609	+1	no_errors	ENST00000441080	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PGK1	5230	genome.wustl.edu	37	X	77381488	77381488	+	3'UTR	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:77381488C>T	ENST00000373316.4	+	0	1582				PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_3'UTR|PGK1_ENST00000442431.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CATCTCAGCTCATCTTCACTG	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.*161C>T	X.37:g.77381488C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	RNA	SNP	-	NULL	ENST00000373316.4	37	NULL	CCDS14438.1	X																																																																																			PGK1	-	-		0.408	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	C			77381488	+1	no_errors	ENST00000476531	ensembl	human	known	70_37	rna	SNP	0.984	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
POM121L12	285877	genome.wustl.edu	37	7	53103693	53103693	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr7:53103693G>A	ENST00000408890.4	+	1	345	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	110										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTCTGGGGCGAGACCTCTCC	0.716																																																	0													24.0	28.0	27.0					7																	53103693		1976	4131	6107	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.329G>A	7.37:g.53103693G>A	ENSP00000386133:p.Arg110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDI9	Missense_Mutation	SNP	NULL	p.R110Q	ENST00000408890.4	37	c.329	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324188	0.10900	.	.	ENSG00000221900	ENST00000408890	T	0.22539	1.95	1.55	-2.22	0.06952	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	B	0.37943	0.261	T	0.29852	-0.9998	9	0.18710	T	0.47	.	4.0799	0.09921	0.0:0.2747:0.5148:0.2105	.	110	Q8N7R1	P1L12_HUMAN	Q	110	ENSP00000386133:R110Q	ENSP00000386133:R110Q	R	+	2	0	POM121L12	53071187	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.729000	0.04920	-0.722000	0.04922	-0.502000	0.04539	CGA	POM121L12	-	NULL		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	G	NM_182595		53103693	+1	no_errors	ENST00000408890	ensembl	human	known	70_37	missense	SNP	0.000	A
PRH2	5555	genome.wustl.edu	37	12	11083355	11083355	+	Missense_Mutation	SNP	G	G	C	rs112809344		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:11083355G>C	ENST00000396400.3	+	3	233	c.195G>C	c.(193-195)caG>caC	p.Q65H	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.Q65H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	65						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						ATGGGAACCAGAATGATGGCC	0.577																																																	0													133.0	129.0	130.0					12																	11083355		2189	4282	6471	SO:0001583	missense	5555				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.195G>C	12.37:g.11083355G>C	ENSP00000379682:p.Gln65His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	NULL	p.Q65H	ENST00000396400.3	37	c.195	CCDS8636.1	12	.	.	.	.	.	.	.	.	.	.	G	4.942	0.175013	0.09391	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.17370	2.28;2.28	0.736	-0.897	0.10553	.	.	.	.	.	T	0.12689	0.0308	L	0.39898	1.24	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.15549	-1.0433	9	0.49607	T	0.09	.	2.8941	0.05685	0.6245:0.0:0.3755:0.0	.	65	P02810	PRPC_HUMAN	H	65	ENSP00000371271:Q65H;ENSP00000379682:Q65H	ENSP00000371271:Q65H	Q	+	3	2	PRH2	10974622	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.313000	0.08103	-0.234000	0.09782	-0.498000	0.04607	CAG	PRH2	-	NULL		0.577	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRH2	HGNC	protein_coding	OTTHUMT00000400231.1	G	NM_001110213		11083355	+1	no_errors	ENST00000381847	ensembl	human	known	70_37	missense	SNP	0.000	C
PSTPIP1	9051	genome.wustl.edu	37	15	77317846	77317846	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:77317846G>C	ENST00000558012.1	+	5	744	c.255G>C	c.(253-255)gaG>gaC	p.E85D	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E85D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E85D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E84D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	85					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CAGAAATGGAGAATGTGGGCA	0.617																																																	0													26.0	29.0	28.0					15																	77317846		2045	4148	6193	SO:0001583	missense	9051			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.255G>C	15.37:g.77317846G>C	ENSP00000452746:p.Glu85Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	p.E150D	ENST00000558012.1	37	c.450	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884188	0.51908	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.20598	2.06;2.06	5.11	4.2	0.49525	Fps/Fes/Fer/CIP4 homology (2);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.53561	1.675	0.48185	D	0.999605	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.97110	0.992;1.0;0.994;0.988	T	0.08932	-1.0698	10	0.25106	T	0.35	-15.1282	7.1557	0.25637	0.264:0.0:0.736:0.0	.	85;84;85;85	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	85;84	ENSP00000368914:E85D;ENSP00000267939:E84D	ENSP00000267939:E84D	E	+	3	2	PSTPIP1	75104901	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.158000	0.50723	1.158000	0.42547	0.561000	0.74099	GAG	PSTPIP1	-	pfam_FCH,superfamily_Prismane-like,smart_FCH		0.617	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	G	NM_003978		77317846	+1	no_errors	ENST00000559785	ensembl	human	known	70_37	missense	SNP	1.000	C
PTCD1	26024	genome.wustl.edu	37	7	99032527	99032527	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr7:99032527C>T	ENST00000292478.4	-	2	589	c.339G>A	c.(337-339)cgG>cgA	p.R113R	PTCD1_ENST00000555673.1_Silent_p.R162R|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.R162R	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	113					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCCCCAAACCGCAGGTTAT	0.537																																																	0													144.0	153.0	150.0					7																	99032527		2203	4300	6503	SO:0001819	synonymous_variant	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.339G>A	7.37:g.99032527C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.R162	ENST00000292478.4	37	c.486	CCDS34691.1	7																																																																																			PTCD1	-	NULL		0.537	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	C	NM_015545		99032527	-1	no_errors	ENST00000555673	ensembl	human	known	70_37	silent	SNP	0.003	T
RAPGEF1	2889	genome.wustl.edu	37	9	134465279	134465279	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:134465279T>C	ENST00000372189.3	-	16	2426	c.2303A>G	c.(2302-2304)gAg>gGg	p.E768G	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E786G|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E785G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	768	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCACCAGAGCTCATCCACCAC	0.582																																																	0													94.0	103.0	100.0					9																	134465279		2069	4202	6271	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2303A>G	9.37:g.134465279T>C	ENSP00000361263:p.Glu768Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E786G	ENST00000372189.3	37	c.2357	CCDS48047.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.9|26.9	4.783934|4.783934	0.90282|0.90282	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686|ENST00000414781	T;T;T|.	0.35236|.	1.32;1.32;1.32|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71074|.	0.3297|.	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|.	0.70303|.	-0.4909|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.8975|14.8975	0.70654|0.70654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	768;786|.	Q13905;Q13905-3|.	RPGF1_HUMAN;.|.	G|W	768;785;714;768;786;748;746;213;785|195	ENSP00000361269:E785G;ENSP00000361263:E768G;ENSP00000361264:E786G|.	ENSP00000266110:E768G|.	E|X	-|-	2|3	0|0	RAPGEF1|RAPGEF1	133455100|133455100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.694000|7.694000	0.84235|0.84235	2.102000|2.102000	0.63906|0.63906	0.459000|0.459000	0.35465|0.35465	GAG|TGA	RAPGEF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.582	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	T	NM_005312		134465279	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48942685	48942685	+	Nonsense_Mutation	SNP	C	C	T	rs121913301		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr13:48942685C>T	ENST00000267163.4	+	11	1210	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	358			R -> G (in RB). {ECO:0000269|PubMed:8776589}.|R -> Q (in RB).		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.R358*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGAACACCACGAAAAAGTAA	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(5)	bone(11)|eye(6)|breast(5)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM951105|CM961226	RB1	M	rs121913301						103.0	97.0	99.0					13																	48942685		2203	4299	6502	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1072C>T	13.37:g.48942685C>T	ENSP00000267163:p.Arg358*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R358*	ENST00000267163.4	37	c.1072	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484616	0.84854	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	4.0	0.46444	.	0.191868	0.43416	D	0.000572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8601	0.70376	0.2717:0.7283:0.0:0.0	.	.	.	.	X	337;358	.	ENSP00000267163:R358X	R	+	1	2	RB1	47840686	0.042000	0.20092	0.842000	0.33263	0.141000	0.21300	0.255000	0.18333	1.485000	0.48380	0.655000	0.94253	CGA	RB1	-	NULL		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48942685	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	0.738	T
RC3H2	54542	genome.wustl.edu	37	9	125616293	125616293	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:125616293C>A	ENST00000373670.1	-	17	3655	c.3055G>T	c.(3055-3057)Gat>Tat	p.D1019Y	RC3H2_ENST00000423239.2_Missense_Mutation_p.D1019Y|RC3H2_ENST00000357244.2_Missense_Mutation_p.D1019Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1019					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGGCCTTCATCCAGGGAATTC	0.413																																																	0													108.0	98.0	101.0					9																	125616293		1876	4111	5987	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3055G>T	9.37:g.125616293C>A	ENSP00000362774:p.Asp1019Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D1019Y	ENST00000373670.1	37	c.3055	CCDS43874.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673109|3.673109	0.67928|0.67928	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239|ENST00000454740	T;T;T|.	0.46819|.	0.86;0.86;0.88|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.243530|.	0.42294|.	D|.	0.000737|.	T|T	0.46268|0.46268	0.1384|0.1384	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.38950|0.38950	-0.9637|-0.9637	10|5	0.59425|.	D|.	0.04|.	-22.8885|-22.8885	17.7375|17.7375	0.88397|0.88397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1019;1019|.	Q9HBD1;Q9HBD1-4|.	RC3H2_HUMAN;.|.	Y|C	1019;1019;890;1019|77	ENSP00000362774:D1019Y;ENSP00000349783:D1019Y;ENSP00000411767:D1019Y|.	ENSP00000349783:D1019Y|.	D|W	-|-	1|3	0|0	RC3H2|RC3H2	124656114|124656114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.692000|4.692000	0.61746|0.61746	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|TGG	RC3H2	-	NULL		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125616293	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	A
REL	5966	genome.wustl.edu	37	2	61147541	61147541	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:61147541G>A	ENST00000295025.8	+	9	1266	c.946G>A	c.(946-948)Gac>Aac	p.D316N	REL_ENST00000394479.3_Intron	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	316					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			tcgccatgttgaccaggatgg	0.537			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													2.0	2.0	2.0					2																	61147541		335	456	791	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.946G>A	2.37:g.61147541G>A	ENSP00000295025:p.Asp316Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D316N	ENST00000295025.8	37	c.946	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790881	0.02884	.	.	ENSG00000162924	ENST00000295025	T	0.02158	4.42	0.654	-1.1	0.09872	Immunoglobulin E-set (1);	0.675969	0.10034	U	0.724344	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.49214	-0.8963	9	0.16420	T	0.52	.	.	.	.	.	316	Q04864	REL_HUMAN	N	316	ENSP00000295025:D316N	ENSP00000295025:D316N	D	+	1	0	REL	61001045	0.007000	0.16637	0.005000	0.12908	0.021000	0.10359	-0.281000	0.08456	-0.423000	0.07394	0.305000	0.20034	GAC	REL	-	superfamily_Ig_E-set		0.537	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61147541	+1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	0.006	A
RIOK3	8780	genome.wustl.edu	37	18	21046196	21046196	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:21046196C>T	ENST00000339486.3	+	6	1260	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RIOK3_ENST00000581585.1_Missense_Mutation_p.R199C|RIOK3_ENST00000577501.1_Missense_Mutation_p.R215C	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	215					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCAGAAGAACGTCGAAGTGC	0.343																																																	0													83.0	81.0	82.0					18																	21046196		2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.643C>T	18.37:g.21046196C>T	ENSP00000341874:p.Arg215Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXN9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.R215C	ENST00000339486.3	37	c.643	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792640	0.50102	.	.	ENSG00000101782	ENST00000339486	T	0.08720	3.06	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.964;0.978;0.925	T	0.00247	-1.1881	10	0.87932	D	0	-0.0033	20.2508	0.98407	0.0:1.0:0.0:0.0	.	199;215;215	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	C	215	ENSP00000341874:R215C	ENSP00000341874:R215C	R	+	1	0	RIOK3	19300194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.698000	0.61789	2.788000	0.95919	0.585000	0.79938	CGT	RIOK3	-	pirsf_Ser/Thr_kinase_Rio3		0.343	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	C	NM_003831		21046196	+1	no_errors	ENST00000339486	ensembl	human	known	70_37	missense	SNP	1.000	T
RNMTL1	55178	genome.wustl.edu	37	17	695084	695084	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:695084G>T	ENST00000304478.4	+	4	1144	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACTCGGACTGGACAGAGGCGC	0.572																																																	0													59.0	62.0	61.0					17																	695084		2203	4300	6503	SO:0001583	missense	55178			AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1038G>T	17.37:g.695084G>T	ENSP00000306080:p.Trp346Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.W346C	ENST00000304478.4	37	c.1038	CCDS10997.1	17	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802922	0.70682	.	.	ENSG00000171861	ENST00000304478	T	0.22945	1.93	5.81	5.81	0.92471	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.67829	-0.5569	10	0.54805	T	0.06	-17.5	19.0439	0.93012	0.0:0.0:1.0:0.0	.	346	Q9HC36	RMTL1_HUMAN	C	346	ENSP00000306080:W346C	ENSP00000306080:W346C	W	+	3	0	RNMTL1	641834	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	9.230000	0.95299	2.741000	0.93983	0.591000	0.81541	TGG	RNMTL1	-	pfam_SpoU_MeTrfase		0.572	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000206611.1	G	NM_018146		695084	+1	no_errors	ENST00000304478	ensembl	human	known	70_37	missense	SNP	1.000	T
RNPEP	6051	genome.wustl.edu	37	1	201966484	201966484	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:201966484G>C	ENST00000295640.4	+	5	935	c.892G>C	c.(892-894)Gga>Cga	p.G298R	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.G259R|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	298	Substrate binding. {ECO:0000250}.				leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTTTCCATTTGGAGGAATGGA	0.582																																					GBM(19;39 479 7473 13131 19462)												0													120.0	115.0	117.0					1																	201966484		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.892G>C	1.37:g.201966484G>C	ENSP00000295640:p.Gly298Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.G298R	ENST00000295640.4	37	c.892	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828826	0.90955	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.42765	0.1217	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60581	-0.7235	10	0.72032	D	0.01	-11.5689	17.2948	0.87168	0.0:0.0:1.0:0.0	.	306;298	Q7RU04;Q9H4A4	.;AMPB_HUMAN	R	298;259;167;44	ENSP00000295640:G298R;ENSP00000356255:G259R;ENSP00000389602:G167R;ENSP00000407614:G44R	ENSP00000295640:G298R	G	+	1	0	RNPEP	200233107	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	7.546000	0.82137	2.361000	0.80049	0.643000	0.83706	GGA	RNPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N		0.582	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	G	NM_020216		201966484	+1	no_errors	ENST00000295640	ensembl	human	known	70_37	missense	SNP	1.000	C
SEMA4G	57715	genome.wustl.edu	37	10	102740026	102740026	+	Missense_Mutation	SNP	C	C	A	rs150071842		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:102740026C>A	ENST00000370250.4	+	10	1649	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	SEMA4G_ENST00000210633.3_Missense_Mutation_p.R426S|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R426S	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	426	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCGCAACATACGCTACACACA	0.582																																																	0													115.0	98.0	103.0					10																	102740026		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1276C>A	10.37:g.102740026C>A	ENSP00000359270:p.Arg426Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R426S	ENST00000370250.4	37	c.1276		10	.	.	.	.	.	.	.	.	.	.	C	4.834	0.155046	0.09236	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.09	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.230650	0.42548	D	0.000686	T	0.09905	0.0243	L	0.41356	1.27	0.27819	N	0.941855	B;B;B	0.33964	0.168;0.434;0.016	B;B;B	0.34038	0.139;0.174;0.047	T	0.15723	-1.0427	10	0.11794	T	0.64	.	8.5267	0.33309	0.286:0.5719:0.1421:0.0	.	426;426;426	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	S	426	ENSP00000428896:R426S;ENSP00000359270:R426S;ENSP00000430175:R426S;ENSP00000210633:R426S	ENSP00000210633:R426S	R	+	1	0	SEMA4G	102730016	0.914000	0.31030	1.000000	0.80357	0.232000	0.25224	1.437000	0.34991	2.370000	0.80446	0.484000	0.47621	CGC	SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.582	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	C			102740026	+1	no_errors	ENST00000210633	ensembl	human	known	70_37	missense	SNP	0.959	A
SIGLEC8	27181	genome.wustl.edu	37	19	51961226	51961226	+	Nonsense_Mutation	SNP	A	A	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:51961226A>T	ENST00000321424.3	-	1	482	c.416T>A	c.(415-417)tTg>tAg	p.L139*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.L139*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.L139*|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	139					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGTAATTCAACTGTGATTT	0.512																																																	0													116.0	119.0	118.0					19																	51961226		2203	4300	6503	SO:0001587	stop_gained	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.416T>A	19.37:g.51961226A>T	ENSP00000321077:p.Leu139*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z728	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L139*	ENST00000321424.3	37	c.416	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425027	0.43020	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	1.22	-2.44	0.06502	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.1209	0.03725	0.3741:0.3372:0.2887:0.0	.	.	.	.	X	139	.	ENSP00000321077:L139X	L	-	2	0	SIGLEC8	56653038	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.867000	0.04241	-0.287000	0.09064	0.327000	0.21459	TTG	SIGLEC8	-	smart_Ig_sub		0.512	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	A	NM_014442		51961226	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	nonsense	SNP	0.001	T
SKAP1	8631	genome.wustl.edu	37	17	46262164	46262164	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:46262164C>T	ENST00000336915.6	-	7	557	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Missense_Mutation_p.R163Q	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGGCCATCCGTACACCGTA	0.542																																																	0													128.0	109.0	116.0					17																	46262164		2203	4300	6503	SO:0001583	missense	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.488G>A	17.37:g.46262164C>T	ENSP00000338171:p.Arg163Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTV1|O15268	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R163Q	ENST00000336915.6	37	c.488	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814469	0.32053	.	.	ENSG00000141293	ENST00000336915	T	0.75938	-0.98	5.37	4.19	0.49359	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211232	0.41194	D	0.000939	T	0.49389	0.1554	N	0.11064	0.09	0.37059	D	0.897995	B;B	0.28208	0.078;0.203	B;B	0.12156	0.007;0.007	T	0.52830	-0.8523	10	0.18710	T	0.47	-53.9291	9.4124	0.38500	0.0:0.7783:0.0:0.2217	.	163;163	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	Q	163	ENSP00000338171:R163Q	ENSP00000338171:R163Q	R	-	2	0	SKAP1	43617163	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.573000	0.36472	2.509000	0.84616	0.557000	0.71058	CGG	SKAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46262164	-1	no_errors	ENST00000336915	ensembl	human	known	70_37	missense	SNP	0.998	T
SLC27A5	10998	genome.wustl.edu	37	19	59021339	59021339	+	Missense_Mutation	SNP	C	C	T	rs371102258		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:59021339C>T	ENST00000263093.2	-	3	1041	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R227Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	311					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGCAGTACCCGCTCATGCGT	0.582																																																	0													156.0	106.0	123.0					19																	59021339		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.932G>A	19.37:g.59021339C>T	ENSP00000263093:p.Arg311Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R311Q	ENST00000263093.2	37	c.932	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	5.681	0.310176	0.10733	.	.	ENSG00000083807	ENST00000263093	T	0.48522	0.81	4.71	-2.58	0.06228	AMP-dependent synthetase/ligase (1);	1.147830	0.06728	N	0.776179	T	0.50837	0.1639	M	0.68952	2.095	0.09310	N	1	D	0.54397	0.966	P	0.49953	0.627	T	0.52660	-0.8546	10	0.32370	T	0.25	-8.8258	8.7394	0.34547	0.0:0.3454:0.0:0.6546	.	311	Q9Y2P5	S27A5_HUMAN	Q	311	ENSP00000263093:R311Q	ENSP00000263093:R311Q	R	-	2	0	SLC27A5	63713151	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	0.044000	0.13992	-0.218000	0.10018	-0.350000	0.07774	CGG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.582	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59021339	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC9A8	23315	genome.wustl.edu	37	20	48467300	48467301	+	Intron	INS	-	-	T	rs564652819		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr20:48467300_48467301insT	ENST00000361573.2	+	7	576				SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000417961.1_Splice_Site_p.GF179fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTTCTCCAGGGTTTTTTTTTTG	0.337																																																	0																																										SO:0001627	intron_variant	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-46->T	20.37:g.48467310_48467310dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F183fs	ENST00000361573.2	37	c.536_537	CCDS13421.1	20																																																																																			SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.337	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	-	XM_030524		48467301	+1	no_errors	ENST00000417961	ensembl	human	known	70_37	frame_shift_ins	INS	0.284:0.189	T
SNX27	81609	genome.wustl.edu	37	1	151611373	151611373	+	Silent	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:151611373G>C	ENST00000458013.2	+	2	441	c.321G>C	c.(319-321)gtG>gtC	p.V107V	SNX27_ENST00000368843.3_Silent_p.V107V|SNX27_ENST00000368838.1_Silent_p.V14V			Q96L92	SNX27_HUMAN	sorting nexin family member 27	107	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCACGTGAATGTTGAGG	0.507																																					Colon(46;291 966 40145 41237 41888)												0													104.0	90.0	95.0					1																	151611373		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.321G>C	1.37:g.151611373G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	NULL	p.E64Q	ENST00000458013.2	37	c.190		1																																																																																			SNX27	-	NULL		0.507	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	G	NM_030918		151611373	+1	no_errors	ENST00000368841	ensembl	human	known	70_37	missense	SNP	1.000	C
SNX27	81609	genome.wustl.edu	37	1	151611518	151611518	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:151611518G>A	ENST00000458013.2	+	2	586	c.466G>A	c.(466-468)Gat>Aat	p.D156N	SNX27_ENST00000368843.3_Missense_Mutation_p.D156N|SNX27_ENST00000368838.1_Missense_Mutation_p.D63N			Q96L92	SNX27_HUMAN	sorting nexin family member 27	156					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATTTTATGATTACACAGA	0.468																																					Colon(46;291 966 40145 41237 41888)												0													114.0	104.0	107.0					1																	151611518		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.466G>A	1.37:g.151611518G>A	ENSP00000400333:p.Asp156Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.D156N	ENST00000458013.2	37	c.466		1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900398	0.92035	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.28895	1.59;1.59;1.59	4.66	4.66	0.58398	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.76838	2.35	0.80722	D	1	P;D	0.69078	0.952;0.997	P;P	0.61874	0.614;0.895	T	0.48758	-0.9007	10	0.52906	T	0.07	.	16.2632	0.82562	0.0:0.0:1.0:0.0	.	156;156	Q96L92;Q96L92-3	SNX27_HUMAN;.	N	156;156;63	ENSP00000400333:D156N;ENSP00000357836:D156N;ENSP00000357831:D63N	ENSP00000357831:D63N	D	+	1	0	SNX27	149878142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.235000	0.95353	2.414000	0.81942	0.591000	0.81541	GAT	SNX27	-	superfamily_Phox,smart_Phox		0.468	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	G	NM_030918		151611518	+1	no_errors	ENST00000368843	ensembl	human	known	70_37	missense	SNP	1.000	A
SPACA3	124912	genome.wustl.edu	37	17	31322636	31322636	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:31322636C>A	ENST00000269053.3	+	2	314	c.244C>A	c.(244-246)Cta>Ata	p.L82I	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000580599.1_Missense_Mutation_p.L13I|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	82					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGCTGCCTGCTACCCTCCAG	0.617																																																	0													105.0	71.0	83.0					17																	31322636		2203	4300	6503	SO:0001583	missense	124912			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.244C>A	17.37:g.31322636C>A	ENSP00000269053:p.Leu82Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4Y5	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.L82I	ENST00000269053.3	37	c.244	CCDS11275.1	17	.	.	.	.	.	.	.	.	.	.	c	7.360	0.624581	0.14193	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.68903	-0.36	3.67	1.67	0.24075	.	0.391273	0.22581	N	0.058220	T	0.46112	0.1376	L	0.29908	0.895	0.09310	N	1	P	0.40970	0.734	B	0.35114	0.196	T	0.33240	-0.9876	10	0.42905	T	0.14	-8.199	5.9335	0.19152	0.0:0.7595:0.0:0.2405	.	82	Q8IXA5	SACA3_HUMAN	I	82;83	ENSP00000269053:L82I	ENSP00000269053:L82I	L	+	1	2	SPACA3	28346749	0.648000	0.27313	0.041000	0.18516	0.431000	0.31685	0.880000	0.28159	0.258000	0.21686	0.364000	0.22116	CTA	SPACA3	-	NULL		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA3	HGNC	protein_coding	OTTHUMT00000256380.1	C	NM_173847		31322636	+1	no_errors	ENST00000269053	ensembl	human	known	70_37	missense	SNP	0.042	A
SPDEF	25803	genome.wustl.edu	37	6	34512080	34512080	+	Silent	SNP	G	G	A	rs576498823		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:34512080G>A	ENST00000374037.3	-	2	567	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SPDEF_ENST00000544425.1_Silent_p.P51P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	51					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GGCCCTGCTCGGGCGTGGCGG	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14756	0.0		0.0	False		,,,				2504	0.0																0													34.0	39.0	37.0					6																	34512080		2203	4300	6503	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.153C>T	6.37:g.34512080G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWH8|F5H778	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.P51	ENST00000374037.3	37	c.153	CCDS4794.1	6																																																																																			SPDEF	-	NULL		0.687	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	G	NM_012391		34512080	-1	no_errors	ENST00000374037	ensembl	human	known	70_37	silent	SNP	0.916	A
SPOCK3	50859	genome.wustl.edu	37	4	167656176	167656176	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:167656176C>T	ENST00000357154.3	-	12	1344	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	SPOCK3_ENST00000541637.1_Missense_Mutation_p.D305N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D271N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D283N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D360N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D352N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D305N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D400N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D307N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	403	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcatcatcctcatcatca	0.348																																																	0													188.0	174.0	179.0					4																	167656176		2203	4300	6503	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1207G>A	4.37:g.167656176C>T	ENSP00000349677:p.Asp403Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.D403N	ENST00000357154.3	37	c.1207	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345463	0.24426	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.14	4.3	0.51218	.	0.308092	0.32935	N	0.005462	T	0.68412	0.2998	L	0.27053	0.805	0.41061	D	0.985372	B;B;B;B;B;B;B	0.29301	0.048;0.241;0.079;0.023;0.155;0.241;0.155	B;B;B;B;B;B;B	0.32583	0.043;0.148;0.032;0.023;0.071;0.148;0.071	T	0.69379	-0.5161	10	0.62326	D	0.03	-21.0779	13.5363	0.61648	0.0:0.923:0.0:0.077	.	305;307;352;412;360;400;403	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	403;400;400;403;403;403;360;283;305;400;271;352;305;307	ENSP00000349677:D403N;ENSP00000350153:D400N;ENSP00000425570:D400N;ENSP00000420920:D403N;ENSP00000423421:D403N;ENSP00000423606:D403N;ENSP00000426716:D360N;ENSP00000444789:D283N;ENSP00000426318:D305N;ENSP00000425502:D400N;ENSP00000441396:D271N;ENSP00000411344:D352N;ENSP00000445430:D305N;ENSP00000438142:D307N	ENSP00000349677:D403N	D	-	1	0	SPOCK3	167892751	1.000000	0.71417	0.110000	0.21437	0.025000	0.11179	5.206000	0.65192	1.297000	0.44761	0.637000	0.83480	GAT	SPOCK3	-	NULL		0.348	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	C			167656176	-1	no_errors	ENST00000357154	ensembl	human	known	70_37	missense	SNP	0.999	T
SREK1	140890	genome.wustl.edu	37	5	65475515	65475515	+	IGR	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:65475515G>T	ENST00000380918.3	+	0	2433				SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GCTGTAGGTGGCAAAGGTGCC	0.383																																					GBM(10;31 347 27684 38976 41583)												0																																										SO:0001628	intergenic_variant	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809		5.37:g.65475515G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTW3|Q2M1J0|Q86X37	RNA	SNP	-	NULL	ENST00000380918.3	37	NULL	CCDS3991.1	5																																																																																			SREK1	-	-		0.383	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	G	NM_001077199		65475515	+1	no_errors	ENST00000284041	ensembl	human	known	70_37	rna	SNP	1.000	T
SRPRB	58477	genome.wustl.edu	37	3	133525541	133525541	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:133525541T>A	ENST00000466490.2	+	3	528	c.243T>A	c.(241-243)ttT>ttA	p.F81L		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	81					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CGTTGCTCTTTGTCAGGGTAA	0.403																																																	0													167.0	155.0	159.0					3																	133525541		2203	4300	6503	SO:0001583	missense	58477			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.243T>A	3.37:g.133525541T>A	ENSP00000418401:p.Phe81Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P595|Q8N2D8	Missense_Mutation	SNP	pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA	p.F81L	ENST00000466490.2	37	c.243	CCDS3081.1	3	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647232	0.87958	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.69806	2.51;-0.43	5.33	0.159	0.14968	.	0.071085	0.53938	N	0.000052	T	0.68081	0.2962	L	0.42581	1.335	0.58432	D	0.999991	D	0.71674	0.998	P	0.60012	0.867	T	0.64118	-0.6482	10	0.45353	T	0.12	-12.8606	10.4583	0.44563	0.0:0.4505:0.0:0.5495	.	81	Q9Y5M8	SRPRB_HUMAN	L	81	ENSP00000418401:F81L;ENSP00000417096:F81L	ENSP00000418401:F81L	F	+	3	2	SRPRB	135008231	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	0.522000	0.22909	-0.196000	0.10366	-0.256000	0.11100	TTT	SRPRB	-	pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA		0.403	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPRB	HGNC	protein_coding	OTTHUMT00000357170.2	T			133525541	+1	no_errors	ENST00000466490	ensembl	human	known	70_37	missense	SNP	0.999	A
TCN1	6947	genome.wustl.edu	37	11	59626606	59626606	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:59626606C>G	ENST00000257264.3	-	5	795	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	231	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTTTTTCTCAGACAGAATC	0.403																																																	0													170.0	161.0	164.0					11																	59626606		2201	4295	6496	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.691G>C	11.37:g.59626606C>G	ENSP00000257264:p.Glu231Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.E231Q	ENST00000257264.3	37	c.691	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	3.543	-0.093303	0.07053	.	.	ENSG00000134827	ENST00000257264	T	0.36340	1.26	4.92	-0.931	0.10438	.	0.577881	0.14636	N	0.307534	T	0.18841	0.0452	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.24394	0.053	T	0.23511	-1.0186	10	0.11794	T	0.64	.	1.6198	0.02711	0.1517:0.3304:0.3263:0.1916	.	231	P20061	TCO1_HUMAN	Q	231	ENSP00000257264:E231Q	ENSP00000257264:E231Q	E	-	1	0	TCN1	59383182	0.000000	0.05858	0.022000	0.16811	0.039000	0.13416	-0.260000	0.08708	-0.049000	0.13379	-0.143000	0.13931	GAG	TCN1	-	pfam_Cbl-bd_transpt_euk		0.403	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	C	NM_001062		59626606	-1	no_errors	ENST00000257264	ensembl	human	known	70_37	missense	SNP	0.003	G
TENM1	10178	genome.wustl.edu	37	X	123699264	123699264	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:123699264C>G	ENST00000371130.3	-	12	2287	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	TENM1_ENST00000422452.2_Missense_Mutation_p.E742Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	742	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCTACACTCACATTTTCCA	0.458																																																	0													172.0	120.0	137.0					X																	123699264		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2224G>C	X.37:g.123699264C>G	ENSP00000360171:p.Glu742Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.E742Q	ENST00000371130.3	37	c.2224	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181403	0.57800	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03242	4.0;4.0	5.75	5.75	0.90469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.135581	0.51477	D	0.000087	T	0.09949	0.0244	L	0.46885	1.475	0.47341	D	0.999398	D;D;B	0.54964	0.969;0.969;0.129	P;P;B	0.55545	0.666;0.778;0.24	T	0.42716	-0.9435	10	0.13470	T	0.59	.	19.1633	0.93543	0.0:1.0:0.0:0.0	.	741;742;742	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	742	ENSP00000360171:E742Q;ENSP00000403954:E742Q	ENSP00000360171:E742Q	E	-	1	0	ODZ1	123526945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.821000	0.62679	2.562000	0.86427	0.600000	0.82982	GAG	TENM1	-	pfam_EGF_extracell,smart_EG-like_dom		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123699264	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G
TICRR	90381	genome.wustl.edu	37	15	90164700	90164700	+	Silent	SNP	C	C	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:90164700C>A	ENST00000268138.7	+	19	3336	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.I1076I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1077					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTGAGATGATCAGCCCCTCAG	0.428																																																	0													70.0	66.0	67.0					15																	90164700		1822	4085	5907	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3231C>A	15.37:g.90164700C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.I1077	ENST00000268138.7	37	c.3231	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.428	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90164700	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.118	A
TMEM132D	121256	genome.wustl.edu	37	12	130015619	130015619	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:130015619G>A	ENST00000422113.2	-	3	1426	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	367					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCTGAGCCAGCTGCTTTCTT	0.473																																																	0													82.0	76.0	78.0					12																	130015619		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1100C>T	12.37:g.130015619G>A	ENSP00000408581:p.Ala367Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A367V	ENST00000422113.2	37	c.1100	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596419	0.28445	.	.	ENSG00000151952	ENST00000422113	T	0.13901	2.55	4.97	4.08	0.47627	.	0.800527	0.10944	N	0.616953	T	0.16342	0.0393	L	0.59436	1.845	0.09310	N	1	B	0.26809	0.16	B	0.24701	0.055	T	0.17018	-1.0383	9	.	.	.	-1.3602	11.7171	0.51659	0.0823:0.0:0.9177:0.0	.	367	Q14C87	T132D_HUMAN	V	367	ENSP00000408581:A367V	.	A	-	2	0	TMEM132D	128581572	0.050000	0.20438	0.001000	0.08648	0.666000	0.39218	2.560000	0.45896	1.093000	0.41377	0.655000	0.94253	GCT	TMEM132D	-	NULL		0.473	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		130015619	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	0.006	A
TNFAIP6	7130	genome.wustl.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0													20.0	21.0	21.0					2																	152236046		2160	4277	6437	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.*278fs	ENST00000243347.3	37	c.833	CCDS2193.1	2																																																																																			TNFAIP6	-	NULL		0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	A	NM_007115		152236046	+1	no_errors	ENST00000243347	ensembl	human	known	70_37	frame_shift_del	DEL	0.961	-
TRAPPC2L	51693	genome.wustl.edu	37	16	88923573	88923573	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:88923573C>G	ENST00000301021.3	+	1	80	c.15C>G	c.(13-15)atC>atG	p.I5M	GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.I5M|GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.I5M|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.I5M|GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000567895.1_5'UTR|TRAPPC2L_ENST00000564365.1_Intron|GALNS_ENST00000569433.1_5'Flank|TRAPPC2L_ENST00000561840.1_5'Flank			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	5					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I5I(1)		lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGTGTGCATCGCGGTGATTG	0.682																																																	1	Substitution - coding silent(1)	lung(1)											18.0	23.0	21.0					16																	88923573		2188	4290	6478	SO:0001583	missense	51693			BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.15C>G	16.37:g.88923573C>G	ENSP00000301021:p.Ile5Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.I5M	ENST00000301021.3	37	c.15	CCDS10971.1	16	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803227	0.50315	.	.	ENSG00000167515	ENST00000301021	D	0.84070	-1.8	3.79	-0.512	0.11966	Longin-like (1);	0.185171	0.44688	D	0.000426	T	0.80869	0.4706	M	0.72118	2.19	0.80722	D	1	P;P	0.40107	0.703;0.466	P;B	0.48524	0.58;0.443	T	0.74393	-0.3680	10	0.62326	D	0.03	-38.6589	0.5426	0.00648	0.223:0.1865:0.1731:0.4174	.	5;5	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	M	5	ENSP00000301021:I5M	ENSP00000301021:I5M	I	+	3	3	TRAPPC2L	87451074	0.894000	0.30519	0.997000	0.53966	0.557000	0.35523	-0.098000	0.11024	0.064000	0.16427	0.313000	0.20887	ATC	TRAPPC2L	-	superfamily_Longin-like_dom		0.682	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC2L	HGNC	protein_coding	OTTHUMT00000269542.1	C	NM_016209		88923573	+1	no_errors	ENST00000301021	ensembl	human	known	70_37	missense	SNP	0.996	G
TRPM1	4308	genome.wustl.edu	37	15	31295133	31295133	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:31295133G>A	ENST00000256552.6	-	28	3917	c.3770C>T	c.(3769-3771)gCg>gTg	p.A1257V	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.A1274V|TRPM1_ENST00000397795.2_Missense_Mutation_p.A1235V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCGATTCCCGCAAGATTTTC	0.468																																																	0													106.0	103.0	104.0					15																	31295133		1980	4160	6140	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3770C>T	15.37:g.31295133G>A	ENSP00000256552:p.Ala1257Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.A1274V	ENST00000256552.6	37	c.3821	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336285	0.24253	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.58506	0.33;0.33;0.33	5.2	2.29	0.28610	.	0.215502	0.47852	N	0.000217	T	0.47948	0.1473	L	0.43701	1.375	0.35049	D	0.760494	B;B	0.20671	0.047;0.012	B;B	0.15870	0.014;0.004	T	0.54873	-0.8228	10	0.42905	T	0.14	-9.8125	13.2333	0.59955	0.1475:0.0:0.8525:0.0	.	1229;1235	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	1235;1274;1257;1235	ENSP00000380897:A1235V;ENSP00000437849:A1274V;ENSP00000256552:A1257V	ENSP00000256552:A1257V	A	-	2	0	TRPM1	29082425	1.000000	0.71417	0.007000	0.13788	0.238000	0.25445	3.846000	0.55888	0.575000	0.29434	-1.069000	0.02264	GCG	TRPM1	-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295133	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.772	A
TTN	7273	genome.wustl.edu	37	2	179594472	179594472	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:179594472C>T	ENST00000591111.1	-	61	17781	c.17557G>A	c.(17557-17559)Gta>Ata	p.V5853I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V6170I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V4926I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12652	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATTTTCTACCCTGGCACCA	0.443																																																	0													123.0	118.0	120.0					2																	179594472		1908	4136	6044	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17557G>A	2.37:g.179594472C>T	ENSP00000465570:p.Val5853Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V4926I	ENST00000591111.1	37	c.14776		2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480787	0.26598	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.17	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50718	0.1632	N	0.25094	0.71	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49781	-0.8903	9	0.87932	D	0	.	9.9041	0.41366	0.0:0.636:0.0:0.364	.	5853	Q8WZ42	TITIN_HUMAN	I	4926	ENSP00000343764:V4926I	ENSP00000343764:V4926I	V	-	1	0	TTN	179302717	0.029000	0.19370	1.000000	0.80357	0.850000	0.48378	0.158000	0.16422	0.872000	0.35775	-0.345000	0.07892	GTA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179594472	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.992	T
UBE2O	63893	genome.wustl.edu	37	17	74394636	74394636	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:74394636C>T	ENST00000319380.7	-	11	1877	c.1813G>A	c.(1813-1815)Ggt>Agt	p.G605S	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	605					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGTACCACACCGTAGACAGCA	0.592											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102.0	85.0	91.0					17																	74394636		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1813G>A	17.37:g.74394636C>T	ENSP00000323687:p.Gly605Ser	Somatic	1152	WXS	Illumina HiSeq	Phase_IV	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G605S	ENST00000319380.7	37	c.1813	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417965	0.83449	.	.	ENSG00000175931	ENST00000319380	D	0.92647	-3.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96359	0.9264	10	0.72032	D	0.01	-22.4308	19.2162	0.93780	0.0:1.0:0.0:0.0	.	605	Q9C0C9	UBE2O_HUMAN	S	605	ENSP00000323687:G605S	ENSP00000323687:G605S	G	-	1	0	UBE2O	71906231	1.000000	0.71417	0.528000	0.27938	0.185000	0.23345	7.763000	0.85283	2.551000	0.86045	0.563000	0.77884	GGT	UBE2O	-	NULL		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	C	NM_022066		74394636	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT1A5	54579	genome.wustl.edu	37	2	234622208	234622208	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:234622208T>C	ENST00000373414.3	+	1	571	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.S191P|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TCCAAACCCTTCCTCCTATAT	0.478																																																	0													192.0	182.0	185.0					2																	234622208		2203	4300	6503	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.571T>C	2.37:g.234622208T>C	ENSP00000362513:p.Ser191Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B8K294	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S191P	ENST00000373414.3	37	c.571	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	T	1.613	-0.523524	0.04141	.	.	ENSG00000240224	ENST00000373414	T	0.59224	0.28	4.88	1.09	0.20402	.	0.602426	0.18029	N	0.153961	T	0.17746	0.0426	N	0.00783	-1.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.33777	-0.9855	10	0.02654	T	1	.	4.6696	0.12682	0.0:0.3647:0.1672:0.468	.	191;191	Q5DSZ9;P35504	.;UD15_HUMAN	P	191	ENSP00000362513:S191P	ENSP00000362513:S191P	S	+	1	0	UGT1A5	234286947	0.000000	0.05858	0.002000	0.10522	0.271000	0.26615	-0.355000	0.07671	0.238000	0.21222	0.459000	0.35465	TCC	UGT1A5	-	pfam_UDP_glucos_trans		0.478	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	T	NM_019078		234622208	+1	no_errors	ENST00000373414	ensembl	human	known	70_37	missense	SNP	0.001	C
USP6	9098	genome.wustl.edu	37	17	5037191	5037191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:5037191G>T	ENST00000574788.1	+	15	2624	c.394G>T	c.(394-396)Gag>Tag	p.E132*	USP6_ENST00000250066.6_Nonsense_Mutation_p.E132*|USP6_ENST00000332776.4_Nonsense_Mutation_p.E132*|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	132	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATCATGAAGGAGAGGGGCAA	0.552			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													174.0	158.0	164.0					17																	5037191		2203	4300	6503	SO:0001587	stop_gained	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.394G>T	17.37:g.5037191G>T	ENSP00000460380:p.Glu132*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.E132*	ENST00000574788.1	37	c.394	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	48	13.986997	0.99774	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	.	.	.	0.862	0.862	0.19056	.	0.050717	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000250066:E132X	E	+	1	0	USP6	4977915	0.798000	0.28890	0.100000	0.21137	0.101000	0.19017	0.546000	0.23284	0.132000	0.18615	0.134000	0.15878	GAG	USP6	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5037191	+1	no_errors	ENST00000250066	ensembl	human	known	70_37	nonsense	SNP	0.941	T
USP32	84669	genome.wustl.edu	37	17	58303537	58303537	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:58303537G>A	ENST00000300896.4	-	13	1489	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	USP32_ENST00000592339.1_Missense_Mutation_p.S102L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	432	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTTCCAAATGAGTATTTTCC	0.393																																																	0													112.0	104.0	107.0					17																	58303537		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1295C>T	17.37:g.58303537G>A	ENSP00000300896:p.Ser432Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.S432L	ENST00000300896.4	37	c.1295	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023756	0.19433	.	.	ENSG00000170832	ENST00000300896	T	0.48522	0.81	5.43	3.42	0.39159	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.455403	0.23380	N	0.048809	T	0.24160	0.0585	N	0.08118	0	0.19300	N	0.999975	B	0.06786	0.001	B	0.08055	0.003	T	0.13522	-1.0506	10	0.31617	T	0.26	.	7.0909	0.25283	0.1512:0.1412:0.7076:0.0	.	432	Q8NFA0	UBP32_HUMAN	L	432	ENSP00000300896:S432L	ENSP00000300896:S432L	S	-	2	0	USP32	55658319	0.587000	0.26791	0.616000	0.29078	0.079000	0.17450	3.369000	0.52365	0.650000	0.30769	0.561000	0.74099	TCA	USP32	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.393	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	G	NM_032582		58303537	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.016	A
USP9X	8239	genome.wustl.edu	37	X	41043695	41043695	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:41043695G>A	ENST00000324545.8	+	23	3958	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1109N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1109					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCTGGCTGATGATTCCTCTGA	0.413																																					Ovarian(172;1807 2695 35459 49286)												0													134.0	120.0	125.0					X																	41043695		2125	4255	6380	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3325G>A	X.37:g.41043695G>A	ENSP00000316357:p.Asp1109Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1109N	ENST00000324545.8	37	c.3325	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959109	0.74016	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.15718	2.4;2.4	5.8	5.8	0.92144	.	0.088669	0.85682	D	0.000000	T	0.15003	0.0362	N	0.22421	0.69	0.80722	D	1	B;B	0.20988	0.05;0.029	B;B	0.20384	0.029;0.021	T	0.05852	-1.0860	10	0.32370	T	0.25	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	1109;1109	Q93008-1;Q93008	.;USP9X_HUMAN	N	1109	ENSP00000367558:D1109N;ENSP00000316357:D1109N	ENSP00000316357:D1109N	D	+	1	0	USP9X	40928639	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.750000	0.98875	2.431000	0.82371	0.513000	0.50165	GAT	USP9X	-	NULL		0.413	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41043695	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS16	64601	genome.wustl.edu	37	20	2845015	2845015	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr20:2845015C>T	ENST00000380445.3	+	18	1797	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	VPS16_ENST00000380443.3_Silent_p.F261F|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Silent_p.F431F	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	575					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTGCAGTGTTCACGGTGTTGC	0.587																																																	0													78.0	73.0	75.0					20																	2845015		2203	4300	6503	SO:0001819	synonymous_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1725C>T	20.37:g.2845015C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.F575	ENST00000380445.3	37	c.1725	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_C,pirsf_VPS16		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2845015	+1	no_errors	ENST00000380445	ensembl	human	known	70_37	silent	SNP	1.000	T
WDR45	11152	genome.wustl.edu	37	X	48935159	48935159	+	Intron	SNP	G	G	C			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:48935159G>C	ENST00000376372.3	-	4	417				WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000322995.8_Intron|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Intron|WDR45_ENST00000376368.2_Intron|WDR45_ENST00000356463.3_Intron|AF196779.12_ENST00000376358.3_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45						autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAAGCTATAAGATCCATGACT	0.493																																																	0																																										SO:0001627	intron_variant	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.235+142C>G	X.37:g.48935159G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	RNA	SNP	-	NULL	ENST00000376372.3	37	NULL	CCDS35250.1	X																																																																																			WDR45	-	-		0.493	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	G	NM_007075		48935159	-1	no_errors	ENST00000465431	ensembl	human	known	70_37	rna	SNP	0.031	C
WDR7	23335	genome.wustl.edu	37	18	54694411	54694411	+	Silent	SNP	C	C	T	rs142769689	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:54694411C>T	ENST00000254442.3	+	28	4657	c.4446C>T	c.(4444-4446)gaC>gaT	p.D1482D	WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000589935.1_Silent_p.D59D|WDR7_ENST00000357574.3_Silent_p.D1449D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1482					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGCCCATGACGGGAAGGAGC	0.597																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	34.0	28.0	30.0		4446,4347	-1.3	1.0	18	dbSNP_134	30	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	WDR7	NM_015285.2,NM_052834.2	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	1482/1491,1449/1458	54694411	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4446C>T	18.37:g.54694411C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1482	ENST00000254442.3	37	c.4446	CCDS11962.1	18																																																																																			WDR7	-	NULL		0.597	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	C			54694411	+1	no_errors	ENST00000254442	ensembl	human	known	70_37	silent	SNP	0.987	T
WNK1	65125	genome.wustl.edu	37	12	970493	970493	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:970493C>T	ENST00000315939.6	+	7	2578	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	WNK1_ENST00000535572.1_Silent_p.P645P|WNK1_ENST00000530271.2_Silent_p.P645P|WNK1_ENST00000537687.1_Silent_p.P645P|WNK1_ENST00000340908.4_Silent_p.P238P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	645					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCAGCAACCCAGTATATCTG	0.403																																					Colon(19;451 567 6672 12618 28860)												0													105.0	97.0	99.0					12																	970493		2203	4300	6503	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1935C>T	12.37:g.970493C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P645	ENST00000315939.6	37	c.1935	CCDS8506.1	12																																																																																			WNK1	-	NULL		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		970493	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	silent	SNP	0.896	T
ZAP70	7535	genome.wustl.edu	37	2	98351725	98351725	+	Silent	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:98351725C>T	ENST00000264972.5	+	10	1310	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	ZAP70_ENST00000451498.2_Silent_p.D58D|ZAP70_ENST00000442208.1_Silent_p.D239D|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCAGATCGACGTGGCCATCA	0.667																																																	0													104.0	80.0	88.0					2																	98351725		2203	4300	6503	SO:0001819	synonymous_variant	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1095C>T	2.37:g.98351725C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D365	ENST00000264972.5	37	c.1095	CCDS33254.1	2																																																																																			ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom		0.667	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	C			98351725	+1	no_errors	ENST00000264972	ensembl	human	known	70_37	silent	SNP	0.720	T
ZC3H12A	80149	genome.wustl.edu	37	1	37947261	37947261	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:37947261C>T	ENST00000373087.6	+	4	759	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCATCACGACGCGTGGGTGG	0.582																																																	0													255.0	226.0	236.0					1																	37947261		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.643C>T	1.37:g.37947261C>T	ENSP00000362179:p.Arg215Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R215C	ENST00000373087.6	37	c.643	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471375	0.84533	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44083	0.93	5.65	4.74	0.60224	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74222	-0.3735	10	0.72032	D	0.01	-19.3379	16.0235	0.80516	0.1354:0.8646:0.0:0.0	.	215	Q5D1E8	ZC12A_HUMAN	C	215	ENSP00000362179:R215C	ENSP00000362174:R215C	R	+	1	0	ZC3H12A	37719848	1.000000	0.71417	0.503000	0.27626	0.825000	0.46686	2.645000	0.46621	1.358000	0.45922	0.655000	0.94253	CGC	ZC3H12A	-	pfam_RNase_Zc3h12		0.582	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37947261	+1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	1.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	825288	825288	+	Silent	SNP	C	C	T	rs267600724		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:825288C>T	ENST00000283441.8	-	8	1397	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.S338S	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	338						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGTGCCGTCGAATCCCCAT	0.552																																																	0													175.0	127.0	143.0					5																	825288		2203	4296	6499	SO:0001819	synonymous_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1014G>A	5.37:g.825288C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S338	ENST00000283441.8	37	c.1014	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL		0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	C	NM_024786		825288	-1	no_errors	ENST00000283441	ensembl	human	known	70_37	silent	SNP	0.001	T
ZFP2	80108	genome.wustl.edu	37	5	178358817	178358817	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:178358817G>T	ENST00000361362.2	+	5	1033	c.503G>T	c.(502-504)aGt>aTt	p.S168I	ZFP2_ENST00000523286.1_Missense_Mutation_p.S168I|ZFP2_ENST00000503510.2_Missense_Mutation_p.S168I|ZFP2_ENST00000520301.1_Missense_Mutation_p.S168I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AAAGCCTTTAGTCAGAGCATG	0.408																																																	0													53.0	53.0	53.0					5																	178358817		2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.503G>T	5.37:g.178358817G>T	ENSP00000354453:p.Ser168Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S168I	ENST00000361362.2	37	c.503	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413277	0.42817	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.7	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002010	T	0.06917	0.0176	L	0.33624	1.015	0.29608	N	0.847181	B	0.29481	0.245	B	0.23150	0.044	T	0.10132	-1.0643	10	0.44086	T	0.13	-14.6318	11.0802	0.48055	0.0:0.365:0.635:0.0	.	168	Q6ZN57	ZFP2_HUMAN	I	168	ENSP00000354453:S168I;ENSP00000430980:S168I;ENSP00000430531:S168I;ENSP00000438114:S168I	ENSP00000354453:S168I	S	+	2	0	ZFP2	178291423	0.000000	0.05858	1.000000	0.80357	0.875000	0.50365	-0.084000	0.11268	1.132000	0.42129	0.585000	0.79938	AGT	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	G	NM_030613		178358817	+1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.958	T
ZFR2	23217	genome.wustl.edu	37	19	3822092	3822092	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:3822092C>T	ENST00000262961.4	-	9	1488	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	493							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTACTGCAGCCGGTGCCGCCG	0.692																																																	0													19.0	22.0	21.0					19																	3822092		1971	4135	6106	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1478G>A	19.37:g.3822092C>T	ENSP00000262961:p.Arg493Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R493Q	ENST00000262961.4	37	c.1478	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.150783	0.94645	.	.	ENSG00000105278	ENST00000262961	T	0.44881	0.91	3.54	3.54	0.40534	Zinc finger, U1-type (1);	0.000000	0.64402	U	0.000017	T	0.66896	0.2836	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74169	-0.3752	10	0.87932	D	0	-33.0285	12.6452	0.56731	0.0:1.0:0.0:0.0	.	493	Q9UPR6	ZFR2_HUMAN	Q	493	ENSP00000262961:R493Q	ENSP00000262961:R493Q	R	-	2	0	ZFR2	3773092	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.234000	0.65343	1.809000	0.52856	0.462000	0.41574	CGG	ZFR2	-	smart_Znf_U1		0.692	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3822092	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF19	7567	genome.wustl.edu	37	16	71509103	71509103	+	Silent	SNP	G	G	T	rs143589546	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:71509103G>T	ENST00000288177.5	-	6	1602	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L	ZNF19_ENST00000565637.1_Silent_p.L407L|ZNF19_ENST00000564230.1_Silent_p.L449L|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Silent_p.L379L	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		aaaattctgggaggccaaaac	0.473																																																	0																																										SO:0001819	synonymous_variant	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1347C>A	16.37:g.71509103G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L449	ENST00000288177.5	37	c.1347	CCDS10901.1	16																																																																																			ZNF19	-	NULL		0.473	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	HGNC	protein_coding	OTTHUMT00000268993.2	G	NM_006961		71509103	-1	no_errors	ENST00000288177	ensembl	human	known	70_37	silent	SNP	0.140	T
ZNF366	167465	genome.wustl.edu	37	5	71756680	71756680	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:71756680C>T	ENST00000318442.5	-	2	1134	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	215					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCGGCTTTCCGGGGCAGCAG	0.657																																																	0													64.0	68.0	66.0					5																	71756680		2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.644G>A	5.37:g.71756680C>T	ENSP00000313158:p.Arg215Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R215Q	ENST00000318442.5	37	c.644	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433196	0.25813	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.64	3.77	0.43336	.	0.099798	0.41001	D	0.000980	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	1	B	0.25312	0.123	B	0.11329	0.006	T	0.31586	-0.9938	10	0.40728	T	0.16	-49.2794	6.7037	0.23238	0.0:0.6573:0.1322:0.2105	.	215	Q8N895	ZN366_HUMAN	Q	215	ENSP00000313158:R215Q	ENSP00000313158:R215Q	R	-	2	0	ZNF366	71792436	0.000000	0.05858	0.069000	0.20011	0.971000	0.66376	0.236000	0.17967	1.534000	0.49203	0.561000	0.74099	CGG	ZNF366	-	NULL		0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	C			71756680	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	missense	SNP	0.007	T
ZNF415	55786	genome.wustl.edu	37	19	53612316	53612316	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:53612316A>G	ENST00000500065.4	-	4	1315	c.982T>C	c.(982-984)Tac>Cac	p.Y328H	ZNF415_ENST00000448501.1_Missense_Mutation_p.Y376H|ZNF415_ENST00000243643.4_Missense_Mutation_p.Y328H|ZNF415_ENST00000455735.2_Missense_Mutation_p.Y376H|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Y340H|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.Y315H|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Y98H|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTACATGTGTAAGGTTTCTCT	0.398																																																	0													83.0	76.0	78.0					19																	53612316		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.982T>C	19.37:g.53612316A>G	ENSP00000439435:p.Tyr328His	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.Y376H	ENST00000500065.4	37	c.1126	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544100	0.45280	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	2.78	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	N	0.25957	0.775	0.09310	N	1	B;D;B;D;B;D	0.71674	0.115;0.998;0.084;0.989;0.115;0.993	B;D;B;D;B;D	0.85130	0.119;0.997;0.095;0.935;0.119;0.993	T	0.09378	-1.0677	9	0.87932	D	0	.	6.9546	0.24563	0.879:0.0:0.121:0.0	.	328;376;376;328;315;340	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	H	328;328;376;340;376;315	ENSP00000243643:Y328H;ENSP00000439435:Y328H;ENSP00000396492:Y376H;ENSP00000395055:Y340H;ENSP00000388787:Y376H;ENSP00000414601:Y315H	ENSP00000243643:Y328H	Y	-	1	0	ZNF415	58304128	0.001000	0.12720	0.004000	0.12327	0.317000	0.28152	1.600000	0.36762	0.309000	0.22966	0.402000	0.26972	TAC	ZNF415	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	A	NM_018355		53612316	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	missense	SNP	0.008	G
ZNF638	27332	genome.wustl.edu	37	2	71653849	71653849	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:71653849C>G	ENST00000409544.1	+	24	5480	c.4850C>G	c.(4849-4851)gCt>gGt	p.A1617G	ZNF638_ENST00000409407.1_Missense_Mutation_p.A557G|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1617G|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1617					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTAGCACAAGCTCTAGTCACT	0.378																																																	0													89.0	85.0	86.0					2																	71653849		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4850C>G	2.37:g.71653849C>G	ENSP00000386433:p.Ala1617Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.A1617G	ENST00000409544.1	37	c.4850	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711163	0.68730	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.38560	1.13;1.13;1.5	5.69	4.79	0.61399	.	0.258207	0.27572	N	0.018775	T	0.31918	0.0812	N	0.19112	0.55	0.80722	D	1	P;P	0.38827	0.649;0.518	B;B	0.41510	0.359;0.197	T	0.06023	-1.0850	10	0.26408	T	0.33	-3.1361	13.5644	0.61807	0.1567:0.8433:0.0:0.0	.	1617;1617	Q14966-3;Q14966	.;ZN638_HUMAN	G	1617;1617;557;557	ENSP00000264447:A1617G;ENSP00000386433:A1617G;ENSP00000386813:A557G	ENSP00000264447:A1617G	A	+	2	0	ZNF638	71507357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.251000	0.51453	1.345000	0.45676	0.650000	0.86243	GCT	ZNF638	-	NULL		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71653849	+1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF799	90576	genome.wustl.edu	37	19	12502496	12502496	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:12502496G>T	ENST00000430385.3	-	4	916	c.716C>A	c.(715-717)tCc>tAc	p.S239Y	ZNF799_ENST00000419318.1_Missense_Mutation_p.S207Y|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTTAGATAGGAACTGTAAAA	0.368																																																	0													70.0	80.0	76.0					19																	12502496		2201	4295	6496	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.716C>A	19.37:g.12502496G>T	ENSP00000411084:p.Ser239Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		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.S239Y	ENST00000430385.3	37	c.716	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517340	0.27123	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.16073	2.37;2.37	1.14	-0.03	0.13916	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.39397	1.21	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.16988	-1.0384	9	0.29301	T	0.29	.	5.0043	0.14280	0.0:0.3856:0.6144:0.0	.	239	Q96GE5	ZN799_HUMAN	Y	207;239	ENSP00000415278:S207Y;ENSP00000411084:S239Y	ENSP00000415278:S207Y	S	-	2	0	ZNF799	12363496	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-3.035000	0.00635	0.036000	0.15547	0.195000	0.17529	TCC	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502496	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF91	7644	genome.wustl.edu	37	19	23544220	23544220	+	Missense_Mutation	SNP	C	C	T	rs12976753		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:23544220C>T	ENST00000300619.7	-	4	1766	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E489K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	521			E -> K (in dbSNP:rs12976753).		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCAAATTTGTAG	0.353																																																	0													40.0	43.0	42.0					19																	23544220		2067	4235	6302	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1561G>A	19.37:g.23544220C>T	ENSP00000300619:p.Glu521Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	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.E521K	ENST00000300619.7	37	c.1561	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.141096	0.00332	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16597	2.33;2.33	1.71	-3.43	0.04810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.03930	-0.32	0.09310	N	1	P;B	0.36048	0.534;0.011	B;B	0.29353	0.101;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	1.0515	0.01581	0.1555:0.1481:0.3116:0.3848	rs12976753;rs12976753	489;521	Q05481-2;Q05481	.;ZNF91_HUMAN	K	521;489	ENSP00000300619:E521K;ENSP00000380272:E489K	ENSP00000300619:E521K	E	-	1	0	ZNF91	23336060	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.330000	0.01110	-1.684000	0.01443	-1.088000	0.02184	GAA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23544220	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.004	T
ZXDB	158586	genome.wustl.edu	37	X	57619632	57619632	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:57619632G>A	ENST00000374888.1	+	1	1364	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	384	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCCCACCAGCGCAGCCACTTC	0.567																																																	0													92.0	81.0	85.0					X																	57619632		2203	4300	6503	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1151G>A	X.37:g.57619632G>A	ENSP00000364023:p.Arg384His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R384H	ENST00000374888.1	37	c.1151	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	20.9	4.064798	0.76187	.	.	ENSG00000198455	ENST00000374888	T	0.58506	0.33	3.44	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77040	-0.2735	10	0.87932	D	0	.	11.9171	0.52771	0.0:0.0:1.0:0.0	.	384	P98169	ZXDB_HUMAN	H	384	ENSP00000364023:R384H	ENSP00000364023:R384H	R	+	2	0	ZXDB	57636357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.114000	0.77103	1.737000	0.51674	0.483000	0.47432	CGC	ZXDB	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.567	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	G	NM_007157		57619632	+1	no_errors	ENST00000374888	ensembl	human	known	70_37	missense	SNP	1.000	A
