#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADRA2B	151	genome.wustl.edu	37	2	96781252	96781253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr2:96781252_96781253insC	ENST00000409345.3	-	1	731_732	c.636_637insG	c.(634-639)gggcctfs	p.P213fs		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	213					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCCTGCCCAGGCCCCCCCTTGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.637dupG	2.37:g.96781259_96781259dupC	ENSP00000387281:p.Pro213fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TUH9|Q53RF2|Q9BZK0	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.P212fs	ENST00000409345.3	37	c.637_636	CCDS56129.1	2																																																																																			ADRA2B	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000222040		0.619	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	22	0.00	0	-			96781252	96781253	-1	no_errors	ENST00000409345	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.000:0.000	C
AGBL2	79841	genome.wustl.edu	37	11	47688436	47688436	+	Intron	SNP	T	T	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr11:47688436T>A	ENST00000525123.1	-	17	2734				AGBL2_ENST00000528244.1_Missense_Mutation_p.Q802H|AGBL2_ENST00000357610.3_Intron|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000298861.4_Intron	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATTTGTCACATTGTGGGAGAG	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2448+71A>T	11.37:g.47688436T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.Q802H	ENST00000525123.1	37	c.2406	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073408	0.20147	.	.	ENSG00000165923	ENST00000528244	T	0.10477	2.87	3.62	-1.67	0.08238	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	P	0.40794	0.729	B	0.41946	0.371	T	0.22661	-1.0210	8	0.66056	D	0.02	.	8.0753	0.30712	0.0:0.5655:0.0:0.4345	.	802	F6U0I4	.	H	802	ENSP00000436630:Q802H	ENSP00000436630:Q802H	Q	-	3	2	AGBL2	47645012	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.455000	0.02379	-0.313000	0.08728	-1.738000	0.00688	CAA	AGBL2	-	NULL	ENSG00000165923		0.398	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	25	0.00	0	T	NM_024783		47688436	47688436	-1	no_errors	ENST00000528244	ensembl	human	putative	69_37n	missense	29	21.62	8	SNP	0.000	A
ARHGAP15	55843	genome.wustl.edu	37	2	144245061	144245061	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr2:144245061A>G	ENST00000295095.6	+	9	990	c.823A>G	c.(823-825)Aaa>Gaa	p.K275E	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	275					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGGACTTATTAAAGGTACAGG	0.333																																						dbGAP											0													73.0	79.0	77.0					2																	144245061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.823A>G	2.37:g.144245061A>G	ENSP00000295095:p.Lys275Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.K275E	ENST00000295095.6	37	c.823	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580434	0.86645	.	.	ENSG00000075884	ENST00000295095	T	0.09817	2.94	5.19	5.19	0.71726	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.80616	2.505	0.58432	D	0.999992	D	0.76494	0.999	P	0.62813	0.907	T	0.11421	-1.0588	10	0.87932	D	0	.	13.6205	0.62134	1.0:0.0:0.0:0.0	.	275	Q53QZ3	RHG15_HUMAN	E	275	ENSP00000295095:K275E	ENSP00000295095:K275E	K	+	1	0	ARHGAP15	143961531	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.350000	0.90069	1.954000	0.56735	0.533000	0.62120	AAA	ARHGAP15	-	NULL	ENSG00000075884		0.333	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	420	0.00	0	A	NM_018460		144245061	144245061	+1	no_errors	ENST00000295095	ensembl	human	known	69_37n	missense	295	24.49	96	SNP	1.000	G
CADPS	8618	genome.wustl.edu	37	3	62499312	62499312	+	Intron	SNP	C	C	T	rs557590790		TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr3:62499312C>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGTACTCACGAATGGTTAA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18230	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													124.0	98.0	107.0					3																	62499312		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-869G>A	3.37:g.62499312C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	-	e17+1	ENST00000383710.4	37	c.2650+1	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016081	0.54468	.	.	ENSG00000163618	ENST00000283269	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62474352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.825000	0.97269	0.655000	0.94253	.	CADPS	-	-	ENSG00000163618		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	27	0.00	0	C	NM_003716, NM_183393, NM_183394		62499312	62499312	-1	no_errors	ENST00000283269	ensembl	human	known	69_37n	splice_site	22	24.14	7	SNP	1.000	T
CBLC	23624	genome.wustl.edu	37	19	45287592	45287593	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr19:45287592_45287593delTC	ENST00000270279.3	+	5	914_915	c.851_852delTC	c.(850-852)atcfs	p.I284fs	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	284	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GATGGCAGCATCCTGCAGACCA	0.604			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.851_852delTC	19.37:g.45287592_45287593delTC	ENSP00000270279:p.Ile284fs	Somatic	930	WXS	Illumina GAIIx	Phase_IV	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Frame_Shift_Del	DEL	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.I284fs	ENST00000270279.3	37	c.851_852	CCDS12643.1	19																																																																																			CBLC	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000142273		0.604	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	38	0.00	0	TC	NM_012116		45287592	45287593	+1	no_errors	ENST00000270279	ensembl	human	known	69_37n	frame_shift_del	62	43.64	48	DEL	1.000:1.000	-
CD5	921	genome.wustl.edu	37	11	60886752	60886752	+	Silent	SNP	T	T	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr11:60886752T>C	ENST00000347785.3	+	5	676	c.510T>C	c.(508-510)tgT>tgC	p.C170C		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	170	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCAGCACTGTGCCGGCGTGG	0.652																																						dbGAP											0													40.0	46.0	44.0					11																	60886752		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.510T>C	11.37:g.60886752T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P4|A8K9I3	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.C170	ENST00000347785.3	37	c.510	CCDS8000.1	11																																																																																			CD5	-	superfamily_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000110448		0.652	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	15	0.00	0	T	NM_014207		60886752	60886752	+1	no_errors	ENST00000347785	ensembl	human	known	69_37n	silent	9	50.00	9	SNP	0.323	C
CDC42BPA	8476	genome.wustl.edu	37	1	227327350	227327350	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr1:227327350T>G	ENST00000366769.3	-	10	2608	c.1317A>C	c.(1315-1317)ttA>ttC	p.L439F	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L439F|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L439F|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L439F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L439F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L439F|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L439F	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTCAGTTGCTAAGTTGTTGT	0.368																																						dbGAP											0													60.0	61.0	61.0					1																	227327350		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1317A>C	1.37:g.227327350T>G	ENSP00000355731:p.Leu439Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L439F	ENST00000366769.3	37	c.1317	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471776	0.84533	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68331	-0.29;-0.3;-0.31;-0.32;-0.32;-0.31;-0.31	5.85	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.66939	2.045	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;0.995;1.0;0.958	D;P;D;P	0.87578	0.998;0.828;0.997;0.755	T	0.78758	-0.2079	10	0.56958	D	0.05	.	11.1775	0.48607	0.0:0.0745:0.0:0.9255	.	439;439;439;439	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	F	439	ENSP00000355731:L439F;ENSP00000355729:L439F;ENSP00000335341:L439F;ENSP00000355728:L439F;ENSP00000355726:L439F;ENSP00000443275:L439F;ENSP00000355727:L439F	ENSP00000335341:L439F	L	-	3	2	CDC42BPA	225393973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.794000	0.47853	1.026000	0.39733	0.467000	0.42956	TTA	CDC42BPA	-	NULL	ENSG00000143776		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	122	0.00	0	T	NM_014826		227327350	227327350	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	142	34.86	76	SNP	1.000	G
CNGA2	1260	genome.wustl.edu	37	X	150912604	150912604	+	Silent	SNP	G	G	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chrX:150912604G>A	ENST00000329903.4	+	6	1662	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	543					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCAGCCTGGGCTACTCAG	0.502																																						dbGAP											0													144.0	127.0	132.0					X																	150912604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1629G>A	X.37:g.150912604G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD0	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L543	ENST00000329903.4	37	c.1629	CCDS14701.1	X																																																																																			CNGA2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000183862		0.502	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	324	0.00	0	G	NM_005140		150912604	150912604	+1	no_errors	ENST00000329903	ensembl	human	known	69_37n	silent	149	37.66	90	SNP	0.999	A
DBH	1621	genome.wustl.edu	37	9	136513070	136513071	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr9:136513070_136513071insAT	ENST00000393056.2	+	6	1139_1140	c.1127_1128insAT	c.(1126-1131)gccattfs	p.I377fs		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	377					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCAGTGATGGCCATTCCACCAC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	Exception_encountered	9.37:g.136513070_136513071insAT	ENSP00000376776:p.Ile377fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T381|Q96AG2	Frame_Shift_Ins	INS	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.I377fs	ENST00000393056.2	37	c.1127_1128	CCDS6977.2	9																																																																																			DBH	-	superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase	ENSG00000123454		0.634	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	14	0.00	0	-	NM_000787		136513070	136513071	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	frame_shift_ins	25	43.18	19	INS	1.000:0.994	AT
DENND5A	23258	genome.wustl.edu	37	11	9200591	9200591	+	Silent	SNP	A	A	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr11:9200591A>G	ENST00000328194.3	-	7	1805	c.1485T>C	c.(1483-1485)aaT>aaC	p.N495N	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_Silent_p.N495N	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	495					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGATCCTTATTGCTGCTGG	0.393																																						dbGAP											0													138.0	122.0	128.0					11																	9200591		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1485T>C	11.37:g.9200591A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.N495	ENST00000328194.3	37	c.1485	CCDS31423.1	11																																																																																			DENND5A	-	NULL	ENSG00000184014		0.393	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	192	0.52	1	A	NM_015213		9200591	9200591	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	silent	35	84.38	189	SNP	0.994	G
DIP2B	57609	genome.wustl.edu	37	12	51138497	51138497	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr12:51138497G>C	ENST00000301180.5	+	38	4640	c.4606G>C	c.(4606-4608)Gtc>Ctc	p.V1536L	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1536	Poly-Val.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCGTTGGCGTCGTGGTTGT	0.552																																						dbGAP											0													166.0	126.0	139.0					12																	51138497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4606G>C	12.37:g.51138497G>C	ENSP00000301180:p.Val1536Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1536L	ENST00000301180.5	37	c.4606	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128351	0.77549	.	.	ENSG00000066084	ENST00000301180	T	0.10477	2.87	5.55	4.66	0.58398	.	0.057622	0.64402	D	0.000002	T	0.32102	0.0818	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05852	-1.0860	10	0.62326	D	0.03	-17.7907	14.4159	0.67151	0.0703:0.0:0.9297:0.0	.	1536	Q9P265	DIP2B_HUMAN	L	1536	ENSP00000301180:V1536L	ENSP00000301180:V1536L	V	+	1	0	DIP2B	49424764	1.000000	0.71417	0.737000	0.30932	0.981000	0.71138	9.601000	0.98297	1.575000	0.49775	0.591000	0.81541	GTC	DIP2B	-	NULL	ENSG00000066084		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	49	0.00	0	G	NM_173602		51138497	51138497	+1	no_errors	ENST00000301180	ensembl	human	known	69_37n	missense	60	42.86	45	SNP	1.000	C
FHDC1	85462	genome.wustl.edu	37	4	153897755	153897755	+	Silent	SNP	T	T	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr4:153897755T>G	ENST00000511601.1	+	12	3500	c.3312T>G	c.(3310-3312)ggT>ggG	p.G1104G	FHDC1_ENST00000260008.3_Silent_p.G1104G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1104									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGCGGAGGGTCCCAGTGCCA	0.677																																						dbGAP											0													14.0	18.0	17.0					4																	153897755		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3312T>G	4.37:g.153897755T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.G1104	ENST00000511601.1	37	c.3312	CCDS34081.1	4																																																																																			FHDC1	-	NULL	ENSG00000137460		0.677	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	14	0.00	0	T	NM_033393		153897755	153897755	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	0.000	G
LILRA6	79168	genome.wustl.edu	37	19	54742958	54742958	+	Silent	SNP	G	G	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr19:54742958G>A	ENST00000396365.2	-	8	1356	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	LILRA6_ENST00000245621.5_Silent_p.H422H|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	439					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCCTTGGCGTGTGAGGCTG	0.597																																						dbGAP											0													108.0	97.0	101.0					19																	54742958		2180	4298	6478	-	-	-	SO:0001819	synonymous_variant	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1317C>T	19.37:g.54742958G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.H422	ENST00000396365.2	37	c.1266	CCDS42610.1	19																																																																																			LILRA6	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000244482		0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	99	0.00	0	G	NM_024318		54742958	54742958	-1	no_errors	ENST00000245621	ensembl	human	known	69_37n	silent	80	31.36	37	SNP	0.000	A
MAML2	84441	genome.wustl.edu	37	11	95826166	95826166	+	Silent	SNP	G	G	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr11:95826166G>A	ENST00000524717.1	-	2	2313	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	343					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCTGACCCAAGTCAATGTTAA	0.483			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													129.0	123.0	125.0					11																	95826166		2031	4183	6214	-	-	-	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1029C>T	11.37:g.95826166G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.D343	ENST00000524717.1	37	c.1029	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.483	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	171	0.00	0	G			95826166	95826166	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	silent	209	17.72	45	SNP	1.000	A
MUC7	4589	genome.wustl.edu	37	4	71347001	71347001	+	Silent	SNP	A	A	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr4:71347001A>C	ENST00000304887.5	+	3	730	c.540A>C	c.(538-540)ccA>ccC	p.P180P	MUC7_ENST00000413702.1_Silent_p.P180P|MUC7_ENST00000456088.1_Silent_p.P180P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	180	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAGCTCCACCATCTTCCTCAG	0.562																																						dbGAP											0													344.0	281.0	302.0					4																	71347001		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.540A>C	4.37:g.71347001A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCD7|Q9UCD8	Silent	SNP	NULL	p.P180	ENST00000304887.5	37	c.540	CCDS3541.1	4																																																																																			MUC7	-	NULL	ENSG00000171195		0.562	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	615	0.16	1	A	NM_152291		71347001	71347001	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	silent	280	38.01	176	SNP	0.000	C
MYO5B	4645	genome.wustl.edu	37	18	47363248	47363248	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr18:47363248T>C	ENST00000285039.7	-	38	5445	c.5146A>G	c.(5146-5148)Ata>Gta	p.I1716V	MYO5B_ENST00000592688.1_Missense_Mutation_p.I286V|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.I831V|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.I39V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1716	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGACTTATATTGTACCTT	0.512																																						dbGAP											0													42.0	39.0	40.0					18																	47363248		1940	4137	6077	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5146A>G	18.37:g.47363248T>C	ENSP00000285039:p.Ile1716Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1716V	ENST00000285039.7	37	c.5146	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	3.755	-0.050745	0.07407	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86097	-2.07;2.56	4.84	3.69	0.42338	Dilute (1);Dil domain (1);	0.144580	0.44097	D	0.000495	T	0.74627	0.3741	N	0.13327	0.33	0.42414	D	0.992612	B;P	0.41232	0.005;0.743	B;P	0.44623	0.015;0.455	T	0.68973	-0.5268	10	0.19147	T	0.46	.	10.0365	0.42131	0.0:0.0799:0.0:0.9201	.	1716;831	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	V	1716;831	ENSP00000285039:I1716V;ENSP00000315531:I831V	ENSP00000285039:I1716V	I	-	1	0	MYO5B	45617246	0.997000	0.39634	0.978000	0.43139	0.952000	0.60782	1.753000	0.38359	0.990000	0.38787	0.533000	0.62120	ATA	MYO5B	-	pfam_Dil_domain,pfscan_Dilute	ENSG00000167306		0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	39	0.00	0	T			47363248	47363248	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.999	C
NEFH	4744	genome.wustl.edu	37	22	29879499	29879500	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr22:29879499_29879500insGG	ENST00000310624.6	+	2	1052_1053	c.1019_1020insGG	c.(1018-1023)gactcafs	p.DS340fs		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	340	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCACCAAGGACTCACTGGAGA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29879499_29879500insGG	ENSP00000311997:p.Asp340fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Frame_Shift_Ins	INS	pfam_F,pfam_DUF1388	p.D340fs	ENST00000310624.6	37	c.1019_1020	CCDS13858.1	22																																																																																			NEFH	-	pfam_F	ENSG00000100285		0.609	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	47	0.00	0	-	NM_021076		29879499	29879500	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	frame_shift_ins	28	12.50	4	INS	1.000:0.996	GG
OR11G2	390439	genome.wustl.edu	37	14	20665887	20665887	+	Silent	SNP	G	G	A	rs4981823	byFrequency	TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr14:20665887G>A	ENST00000357366.3	+	1	393	c.393G>A	c.(391-393)tcG>tcA	p.S131S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCATCTCGTTCTCTGGCT	0.483																																						dbGAP											0													69.0	62.0	65.0					14																	20665887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.393G>A	14.37:g.20665887G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF09|Q96R33	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S131	ENST00000357366.3	37	c.393	CCDS32032.1	14																																																																																			OR11G2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196832		0.483	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR11G2	HGNC	protein_coding	OTTHUMT00000395722.1	77	0.00	0	G			20665887	20665887	+1	no_errors	ENST00000357366	ensembl	human	known	69_37n	silent	14	42.51	142	SNP	0.992	A
PDE4D	5144	genome.wustl.edu	37	5	58511603	58511603	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr5:58511603A>G	ENST00000340635.6	-	2	822	c.647T>C	c.(646-648)aTa>aCa	p.I216T	PDE4D_ENST00000405755.2_Splice_Site_p.I94T|PDE4D_ENST00000502484.2_Splice_Site_p.I155T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Splice_Site_p.I152T|PDE4D_ENST00000360047.5_Splice_Site_p.I80T|PDE4D_ENST00000546160.1_Splice_Site_p.I155T|PDE4D_ENST00000503258.1_Splice_Site_p.I86T|PDE4D_ENST00000507116.1_Splice_Site_p.I152T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	216					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGTACTTACATATCACTGGC	0.433																																						dbGAP											0													91.0	86.0	88.0					5																	58511603		1853	4101	5954	-	-	-	SO:0001630	splice_region_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.647+1T>C	5.37:g.58511603A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.I216T	ENST00000340635.6	37	c.647	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	A	9.961	1.222776	0.22457	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;T	0.80480	-0.15;-0.15;-0.16;-0.15;-0.15;-0.16;-0.16;-1.38	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	N	0.08118	0	0.52099	D	0.999945	P;D;D;P;D;B;B;D	0.58970	0.936;0.984;0.96;0.932;0.96;0.336;0.336;0.978	P;P;D;P;D;B;B;P	0.64237	0.654;0.839;0.923;0.84;0.923;0.275;0.275;0.702	T	0.71520	-0.4568	10	0.10377	T	0.69	.	14.4182	0.67165	1.0:0.0:0.0:0.0	.	96;152;155;216;152;79;94;86	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	T	216;85;80;152;86;94;155;155;152	ENSP00000345502:I216T;ENSP00000353152:I80T;ENSP00000424852:I152T;ENSP00000425605:I86T;ENSP00000384806:I94T;ENSP00000423094:I155T;ENSP00000442734:I155T;ENSP00000425917:I152T	ENSP00000308485:I152T	I	-	2	0	PDE4D	58547360	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.306000	0.72810	1.863000	0.54032	0.482000	0.46254	ATA	PDE4D	-	NULL	ENSG00000113448		0.433	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	162	0.00	0	A		Missense_Mutation	58511603	58511603	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	126	60.13	190	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	212	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	137	64.18	249	SNP	1.000	G
PLXNC1	10154	genome.wustl.edu	37	12	94641830	94641830	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr12:94641830C>T	ENST00000258526.4	+	13	2789	c.2540C>T	c.(2539-2541)aCg>aTg	p.T847M		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	847					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.T847M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCAGATTCACGGGGTATCGG	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											85.0	78.0	80.0					12																	94641830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2540C>T	12.37:g.94641830C>T	ENSP00000258526:p.Thr847Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T847M	ENST00000258526.4	37	c.2540	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515265	0.44763	.	.	ENSG00000136040	ENST00000258526	T	0.07444	3.19	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (1);	0.236624	0.43747	D	0.000535	T	0.14743	0.0356	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.50231	0.635	T	0.00468	-1.1721	10	0.34782	T	0.22	.	10.9882	0.47534	0.0:0.913:0.0:0.087	.	847	O60486	PLXC1_HUMAN	M	847	ENSP00000258526:T847M	ENSP00000258526:T847M	T	+	2	0	PLXNC1	93165961	1.000000	0.71417	0.983000	0.44433	0.076000	0.17211	2.057000	0.41365	2.937000	0.99478	0.650000	0.86243	ACG	PLXNC1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000136040		0.498	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	109	0.00	0	C			94641830	94641830	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	missense	116	47.79	108	SNP	0.997	T
RFC1	5981	genome.wustl.edu	37	4	39308263	39308263	+	Silent	SNP	C	C	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr4:39308263C>G	ENST00000381897.1	-	14	2080	c.1947G>C	c.(1945-1947)ctG>ctC	p.L649L	RFC1_ENST00000349703.2_Silent_p.L648L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	649					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGGGCCTGACAGCAACGCTG	0.488																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													89.0	82.0	85.0					4																	39308263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1947G>C	4.37:g.39308263C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.L649	ENST00000381897.1	37	c.1947	CCDS56329.1	4																																																																																			RFC1	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.488	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	83	0.00	0	C	NM_002913		39308263	39308263	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	silent	49	41.67	35	SNP	0.979	G
SEC31B	25956	genome.wustl.edu	37	10	102250551	102250551	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr10:102250551C>A	ENST00000370345.3	-	20	2659	c.2562G>T	c.(2560-2562)caG>caT	p.Q854H		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	854	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TCCTGGGACCCTGATAAGGGC	0.567																																						dbGAP											0													59.0	54.0	55.0					10																	102250551		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2562G>T	10.37:g.102250551C>A	ENSP00000359370:p.Gln854His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q854H	ENST00000370345.3	37	c.2562	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364158	0.24684	.	.	ENSG00000075826	ENST00000370345	T	0.54479	0.57	4.92	0.438	0.16560	.	0.539978	0.21823	N	0.068595	T	0.53400	0.1794	M	0.66939	2.045	0.09310	N	1	D;D	0.61080	0.989;0.958	P;P	0.55785	0.784;0.635	T	0.43015	-0.9417	10	0.25106	T	0.35	0.1915	3.4106	0.07357	0.1775:0.5077:0.0:0.3148	.	853;854	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	H	854	ENSP00000359370:Q854H	ENSP00000359370:Q854H	Q	-	3	2	SEC31B	102240541	0.006000	0.16342	0.015000	0.15790	0.199000	0.23934	0.359000	0.20233	0.109000	0.17891	0.555000	0.69702	CAG	SEC31B	-	NULL	ENSG00000075826		0.567	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	59	0.00	0	C	NM_015490		102250551	102250551	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	missense	119	24.84	40	SNP	0.012	A
SEC31B	25956	genome.wustl.edu	37	10	102258465	102258465	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr10:102258465T>C	ENST00000370345.3	-	14	1778	c.1681A>G	c.(1681-1683)Aaa>Gaa	p.K561E	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	561					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGGTACCTTTTGTGATGGGG	0.547																																						dbGAP											0													133.0	124.0	127.0					10																	102258465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1681A>G	10.37:g.102258465T>C	ENSP00000359370:p.Lys561Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K561E	ENST00000370345.3	37	c.1681	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	T	6.564	0.472422	0.12461	.	.	ENSG00000075826	ENST00000370345	T	0.49139	0.79	5.42	4.51	0.55191	.	0.516189	0.21647	N	0.071248	T	0.11623	0.0283	N	0.00116	-2.08	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13308	-1.0514	10	0.09084	T	0.74	.	10.3933	0.44185	0.0:0.9067:0.0:0.0933	.	560;561	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	E	561	ENSP00000359370:K561E	ENSP00000359370:K561E	K	-	1	0	SEC31B	102248455	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.940000	0.28992	1.276000	0.44395	-0.366000	0.07423	AAA	SEC31B	-	NULL	ENSG00000075826		0.547	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	128	0.00	0	T	NM_015490		102258465	102258465	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	missense	197	20.56	51	SNP	1.000	C
TMEM51	55092	genome.wustl.edu	37	1	15541743	15541743	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr1:15541743G>A	ENST00000428417.1	+	2	606	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	TMEM51_ENST00000400796.3_Missense_Mutation_p.G54S|TMEM51_ENST00000376014.3_Missense_Mutation_p.G54S|TMEM51_ENST00000376008.2_Missense_Mutation_p.G54S|TMEM51_ENST00000434578.2_Missense_Mutation_p.G54S	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	54						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GACCGAGGTGGGTGGCGGCAT	0.612																																						dbGAP											0													150.0	148.0	148.0					1																	15541743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.160G>A	1.37:g.15541743G>A	ENSP00000394899:p.Gly54Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K819	Missense_Mutation	SNP	NULL	p.G54S	ENST00000428417.1	37	c.160	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913543	0.33815	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.43	3.54	0.40534	.	0.113524	0.64402	D	0.000014	T	0.28830	0.0715	L	0.57536	1.79	0.09310	N	0.999998	B;B	0.20052	0.041;0.027	B;B	0.19391	0.016;0.025	T	0.24870	-1.0148	10	0.56958	D	0.05	-1.1255	8.8506	0.35196	0.2321:0.0:0.7679:0.0	.	54;54	Q9BSA0;Q9NW97	.;TMM51_HUMAN	S	54	ENSP00000394899:G54S;ENSP00000365182:G54S;ENSP00000412298:G54S;ENSP00000409665:G54S;ENSP00000383600:G54S;ENSP00000365176:G54S	ENSP00000303666:G54S	G	+	1	0	TMEM51	15414330	0.988000	0.35896	0.118000	0.21660	0.599000	0.36880	3.417000	0.52714	1.309000	0.44985	0.655000	0.94253	GGT	TMEM51	-	NULL	ENSG00000171729		0.612	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	36	0.00	0	G	NM_018022		15541743	15541743	+1	no_errors	ENST00000303840	ensembl	human	known	69_37n	missense	89	38.62	56	SNP	0.110	A
SELP	6403	genome.wustl.edu	37	1	169578883	169578883	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr1:169578883C>A	ENST00000263686.6	-	8	1229	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	SELP_ENST00000367788.2_Missense_Mutation_p.D336Y|SELP_ENST00000367793.2_Missense_Mutation_p.D336Y|SELP_ENST00000367792.2_Missense_Mutation_p.D336Y|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.D336Y|SELP_ENST00000367786.2_Missense_Mutation_p.D336Y|SELP_ENST00000458599.2_Missense_Mutation_p.D336Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	398	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGAGAGCAATCCATGCTTCCG	0.507																																						dbGAP											0													102.0	86.0	91.0					1																	169578883		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1192G>T	1.37:g.169578883C>A	ENSP00000263686:p.Asp398Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.D398Y	ENST00000263686.6	37	c.1192	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.23|12.23	1.876037|1.876037	0.33162|0.33162	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	5.74|5.74	2.37|2.37	0.29283|0.29283	Complement control module (2);Sushi/SCR/CCP (3);|.	0.306471|.	0.27961|.	N|.	0.017148|.	T|T	0.20292|0.20292	0.0488|0.0488	L|L	0.56124|0.56124	1.755|1.755	0.09310|0.09310	N|N	0.999994|0.999994	D;D;D|.	0.69078|.	0.997;0.987;0.995|.	D;D;D|.	0.71414|.	0.973;0.949;0.939|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.56958|.	D|.	0.05|.	-7.7338|-7.7338	2.8896|2.8896	0.05673|0.05673	0.1478:0.5338:0.1439:0.1745|0.1478:0.5338:0.1439:0.1745	.|.	398;398;398|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	Y|V	398;397;336;398;398;336;336;336;336;336;321|335	ENSP00000263686:D398Y;ENSP00000356767:D336Y;ENSP00000356768:D336Y;ENSP00000356766:D336Y;ENSP00000356762:D336Y;ENSP00000356760:D336Y|.	ENSP00000263686:D398Y|.	D|G	-|-	1|2	0|0	SELP|SELP	167845507|167845507	0.036000|0.036000	0.19791|0.19791	0.120000|0.120000	0.21714|0.21714	0.457000|0.457000	0.32468|0.32468	0.729000|0.729000	0.26028|0.26028	0.757000|0.757000	0.33036|0.33036	-0.142000|-0.142000	0.14014|0.14014	GAT|GGA	SELP	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.507	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	179	0.00	0	C	NM_003005		169578883	169578883	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	80	73.68	224	SNP	0.001	A
VCAN	1462	genome.wustl.edu	37	5	82835164	82835164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr5:82835164delA	ENST00000265077.3	+	8	6907	c.6342delA	c.(6340-6342)acafs	p.T2115fs	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Frame_Shift_Del_p.T1128fs|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2115	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGTGAAACAACATCAGAGG	0.378																																						dbGAP											0													69.0	71.0	71.0					5																	82835164		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6342delA	5.37:g.82835164delA	ENSP00000265077:p.Thr2115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Frame_Shift_Del	DEL	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.T2115fs	ENST00000265077.3	37	c.6342	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	330	0.00	0	A	NM_004385		82835164	82835164	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	frame_shift_del	267	32.07	127	DEL	0.000	-
ZNF415	55786	genome.wustl.edu	37	19	53612815	53612815	+	Silent	SNP	T	T	C			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr19:53612815T>C	ENST00000500065.4	-	4	816	c.483A>G	c.(481-483)gaA>gaG	p.E161E	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.E173E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E148E|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Silent_p.E209E|ZNF415_ENST00000243643.4_Silent_p.E161E|ZNF415_ENST00000448501.1_Silent_p.E209E|ZNF415_ENST00000597748.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	209					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)		CATGGTTACATTCATAAATTT	0.383																																						dbGAP											0													119.0	114.0	115.0					19																	53612815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.483A>G	19.37:g.53612815T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E209	ENST00000500065.4	37	c.627	CCDS54313.1	19																																																																																			ZNF415	-	NULL	ENSG00000170954		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	199	0.00	0	T	NM_018355		53612815	53612815	-1	no_errors	ENST00000448501	ensembl	human	known	69_37n	silent	111	61.77	181	SNP	0.005	C
ZNF460	10794	genome.wustl.edu	37	19	57802916	57802916	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr19:57802916T>G	ENST00000360338.3	+	3	1329	c.1007T>G	c.(1006-1008)tTt>tGt	p.F336C	ZNF460_ENST00000537645.1_Missense_Mutation_p.F295C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGGCCCTTTAAGTGCCTT	0.488																																						dbGAP											0													85.0	77.0	80.0					19																	57802916		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1007T>G	19.37:g.57802916T>G	ENSP00000353491:p.Phe336Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.F336C	ENST00000360338.3	37	c.1007	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740488	0.30865	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.24908	1.83;1.83	1.83	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29882	0.0747	M	0.88241	2.94	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.42649	-0.9439	9	0.87932	D	0	.	4.0786	0.09916	0.3285:0.0:0.1207:0.5508	.	336	Q14592	ZN460_HUMAN	C	295;336	ENSP00000446167:F295C;ENSP00000353491:F336C	ENSP00000353491:F336C	F	+	2	0	ZNF460	62494728	0.000000	0.05858	0.009000	0.14445	0.880000	0.50808	-0.566000	0.05922	-1.032000	0.03304	-0.451000	0.05528	TTT	ZNF460	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197714		0.488	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	138	0.00	0	T	NM_006635		57802916	57802916	+1	no_errors	ENST00000360338	ensembl	human	known	69_37n	missense	118	21.85	33	SNP	0.006	G
ZNF511	118472	genome.wustl.edu	37	10	135125257	135125257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09C-01A-11W-A019-09	TCGA-A8-A09C-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b56cf2cb-bb2a-46b6-b3b4-84dd8b364984	ca018838-491c-495f-bdd9-098feb0f24f3	g.chr10:135125257delC	ENST00000359035.3	+	5	595	c.592delC	c.(592-594)cggfs	p.R198fs	ZNF511_ENST00000361518.5_Frame_Shift_Del_p.R198fs|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000368554.4_Frame_Shift_Del_p.R133fs|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CAGTGGAGAGCGGTCAGAAGG	0.632																																						dbGAP											0													65.0	66.0	65.0					10																	135125257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.592delC	10.37:g.135125257delC	ENSP00000351929:p.Arg198fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8L5|Q8WUP1|Q96BV2	Frame_Shift_Del	DEL	smart_Znf_C2H2-like	p.R133fs	ENST00000359035.3	37	c.397		10																																																																																			ZNF511	-	NULL	ENSG00000198546		0.632	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	19	0.00	0	C	NM_145806		135125257	135125257	+1	no_errors	ENST00000368554	ensembl	human	known	69_37n	frame_shift_del	11	52.17	12	DEL	0.024	-
