#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
AP1G2	8906	genome.wustl.edu	37	14	24028968	24028968	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr14:24028968G>A	ENST00000308724.5	-	21	3103	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.S783L|THTPA_ENST00000288014.6_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	783					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TTACTGCCACGATTCCACAGG	0.572											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													70.0	54.0	59.0					14																	24028968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.2348C>T	14.37:g.24028968G>A	ENSP00000312442:p.Ser783Leu	Somatic	768	WXS	Illumina GAIIx	Phase_IV	D3DS51|O75504	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.S783L	ENST00000308724.5	37	c.2348	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350413	0.61183	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.17528	2.27;2.27	5.32	5.32	0.75619	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.430031	0.22936	N	0.053843	T	0.07324	0.0185	N	0.03608	-0.345	0.30151	N	0.80305	B;P	0.39352	0.443;0.669	B;B	0.30646	0.074;0.118	T	0.08554	-1.0716	10	0.33141	T	0.24	-3.8073	14.4991	0.67709	0.0:0.0:1.0:0.0	.	783;638	O75843;Q86V28	AP1G2_HUMAN;.	L	783;783;552;638	ENSP00000312442:S783L;ENSP00000380309:S783L	ENSP00000312442:S783L	S	-	2	0	AP1G2	23098808	1.000000	0.71417	0.936000	0.37596	0.985000	0.73830	6.951000	0.75983	2.492000	0.84095	0.655000	0.94253	TCG	AP1G2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP1_complex_gsu	ENSG00000213983		0.572	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	44	0.00	0	G	NM_003917		24028968	24028968	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.997	A
CACNA1F	778	genome.wustl.edu	37	X	49083475	49083475	+	Silent	SNP	G	G	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chrX:49083475G>A	ENST00000376265.2	-	9	1294	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	CACNA1F_ENST00000323022.5_Silent_p.A411A|CACNA1F_ENST00000376251.1_Silent_p.A346A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	411	Binding to the beta subunit. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGCTCTTCGGCTTGAGTGA	0.602																																						dbGAP											0													67.0	46.0	53.0					X																	49083475		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1233C>T	X.37:g.49083475G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A411	ENST00000376265.2	37	c.1233	CCDS35253.1	X																																																																																			CACNA1F	-	NULL	ENSG00000102001		0.602	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	28	0.00	0	G	NM_005183		49083475	49083475	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	silent	25	32.43	12	SNP	0.362	A
BRWD3	254065	genome.wustl.edu	37	X	79979248	79979248	+	Splice_Site	SNP	T	T	C			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chrX:79979248T>C	ENST00000373275.4	-	16	1865	c.1649A>G	c.(1648-1650)aAg>aGg	p.K550R	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	550					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						tatgctaacctttTCGTAGTA	0.338																																						dbGAP											0													71.0	65.0	67.0					X																	79979248		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1650+1A>G	X.37:g.79979248T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.K550R	ENST00000373275.4	37	c.1649	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880400	0.33255	.	.	ENSG00000165288	ENST00000373275	T	0.41400	1.0	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.74881	2.28	0.38419	D	0.946126	B	0.24043	0.096	B	0.25614	0.062	T	0.39035	-0.9633	9	.	.	.	-12.497	7.2796	0.26304	0.0:0.101:0.0:0.899	.	550	Q6RI45	BRWD3_HUMAN	R	550	ENSP00000362372:K550R	.	K	-	2	0	BRWD3	79865904	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.806000	0.69150	1.661000	0.50771	0.350000	0.21858	AAG	BRWD3	-	NULL	ENSG00000165288		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	69	0.00	0	T	NM_153252	Missense_Mutation	79979248	79979248	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	64	20.99	17	SNP	1.000	C
CDC14A	8556	genome.wustl.edu	37	1	100960455	100960455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr1:100960455C>T	ENST00000336454.3	+	12	1574	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.Q349*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.Q407*|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.Q407*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	407					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAGTCAGAGACAGCCACGTAC	0.373																																						dbGAP											0													121.0	110.0	114.0					1																	100960455		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1219C>T	1.37:g.100960455C>T	ENSP00000336739:p.Gln407*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Q407*	ENST00000336454.3	37	c.1219	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.129954	0.98667	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	.	.	.	5.9	4.98	0.66077	.	0.358237	0.33553	N	0.004797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.42	16.3265	0.82983	0.1334:0.8666:0.0:0.0	.	.	.	.	X	349;407;407;407	.	ENSP00000336739:Q407X	Q	+	1	0	CDC14A	100733043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.727000	0.54984	1.476000	0.48215	0.650000	0.86243	CAG	CDC14A	-	NULL	ENSG00000079335		0.373	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	84	0.00	0	C	NM_033312		100960455	100960455	+1	no_errors	ENST00000361544	ensembl	human	known	69_37n	nonsense	40	43.66	31	SNP	1.000	T
CNBD1	168975	genome.wustl.edu	37	8	88365983	88365983	+	Silent	SNP	G	G	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr8:88365983G>A	ENST00000518476.1	+	10	1323	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	424								p.E424E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGAAGTTGAGATGGCAATCA	0.318																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											87.0	85.0	85.0					8																	88365983		1840	4083	5923	-	-	-	SO:0001819	synonymous_variant	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1272G>A	8.37:g.88365983G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R61K	ENST00000518476.1	37	c.182	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348264	0.01266	.	.	ENSG00000176571	ENST00000523299;ENST00000521593	.	.	.	4.98	0.207	0.15214	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.37203	D	0.904456	.	.	.	.	.	.	T	0.44329	-0.9335	4	.	.	.	-21.5028	6.4362	0.21825	0.5859:0.0:0.4141:0.0	.	.	.	.	K	116;61	.	.	R	+	2	0	CNBD1	88435099	0.432000	0.25554	0.455000	0.27031	0.012000	0.07955	0.211000	0.17474	0.117000	0.18138	-0.377000	0.06932	AGA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	87	0.00	0	G	NM_173538		88365983	88365983	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521593	ensembl	human	putative	69_37n	missense	54	48.08	50	SNP	0.558	A
DHRS7C	201140	genome.wustl.edu	37	17	9674897	9674897	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr17:9674897C>A	ENST00000330255.5	-	6	859	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.A282S	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	283					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACGTACACGGCGGCCTTGGGG	0.617																																						dbGAP											0													53.0	61.0	58.0					17																	9674897		2061	4197	6258	-	-	-	SO:0001583	missense	0				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.847G>T	17.37:g.9674897C>A	ENSP00000327975:p.Ala283Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZW74|B9EJH3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A283S	ENST00000330255.5	37	c.847	CCDS56020.1	17	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043291	0.55003	.	.	ENSG00000184544	ENST00000330255	T	0.51817	0.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.69584	-0.5106	10	0.72032	D	0.01	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	283;279	A6NNS2;B9EJH3	DRS7C_HUMAN;.	S	283	ENSP00000327975:A283S	ENSP00000327975:A283S	A	-	1	0	DHRS7C	9615622	1.000000	0.71417	0.231000	0.23993	0.861000	0.49209	7.056000	0.76662	2.850000	0.98022	0.650000	0.86243	GCC	DHRS7C	-	NULL	ENSG00000184544		0.617	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	HGNC	protein_coding	OTTHUMT00000439863.1	44	0.00	0	C	XM_113912		9674897	9674897	-1	no_errors	ENST00000330255	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.997	A
GK2	2712	genome.wustl.edu	37	4	80327715	80327715	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr4:80327715C>G	ENST00000358842.3	-	1	1657	c.1640G>C	c.(1639-1641)aGa>aCa	p.R547T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CGAGATATATCTTGCTCCAAT	0.383																																						dbGAP											0													78.0	77.0	78.0					4																	80327715		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1640G>C	4.37:g.80327715C>G	ENSP00000351706:p.Arg547Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.R547T	ENST00000358842.3	37	c.1640	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971044	0.34754	.	.	ENSG00000196475	ENST00000358842	T	0.14893	2.47	4.11	4.11	0.48088	.	0.050880	0.85682	D	0.000000	T	0.09949	0.0244	N	0.08118	0	0.29999	N	0.816185	P	0.35527	0.507	B	0.39771	0.309	T	0.03641	-1.1017	10	0.72032	D	0.01	-18.6772	7.9907	0.30239	0.0:0.8919:0.0:0.1081	.	547	Q14410	GLPK2_HUMAN	T	547	ENSP00000351706:R547T	ENSP00000351706:R547T	R	-	2	0	GK2	80546739	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	4.455000	0.60075	2.584000	0.87258	0.585000	0.79938	AGA	GK2	-	NULL	ENSG00000196475		0.383	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	65	0.00	0	C	NM_033214		80327715	80327715	-1	no_errors	ENST00000358842	ensembl	human	known	69_37n	missense	46	50.00	46	SNP	1.000	G
INTS6	26512	genome.wustl.edu	37	13	51961567	51961567	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr13:51961567C>A	ENST00000311234.4	-	7	1321	c.849G>T	c.(847-849)tgG>tgT	p.W283C	INTS6_ENST00000463928.1_Missense_Mutation_p.W283C|INTS6_ENST00000398119.2_Missense_Mutation_p.W270C|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.W105C|INTS6_ENST00000490542.1_5'Flank	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	283					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTGGAACAGGCCAATGACCTA	0.413																																						dbGAP											0													97.0	89.0	92.0					13																	51961567		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.849G>T	13.37:g.51961567C>A	ENSP00000310260:p.Trp283Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.W283C	ENST00000311234.4	37	c.849	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205087	0.79127	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	T;T;T	0.57752	0.38;0.38;0.38	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85212	0.1021	10	0.87932	D	0	-4.7342	17.2129	0.86935	0.0:1.0:0.0:0.0	.	283	Q9UL03	INT6_HUMAN	C	283;270;105	ENSP00000310260:W283C;ENSP00000381187:W270C;ENSP00000419871:W105C	ENSP00000310260:W283C	W	-	3	0	INTS6	50859568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.356000	0.79943	0.561000	0.74099	TGG	INTS6	-	NULL	ENSG00000102786		0.413	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	81	0.00	0	C	NM_012141		51961567	51961567	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	35	36.36	20	SNP	1.000	A
ITIH6	347365	genome.wustl.edu	37	X	54784950	54784950	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chrX:54784950G>C	ENST00000218436.6	-	8	1586	c.1557C>G	c.(1555-1557)caC>caG	p.H519Q		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	519					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGCTGCCAGGTGGATGCCCA	0.627																																						dbGAP											0													24.0	22.0	23.0					X																	54784950		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1557C>G	X.37:g.54784950G>C	ENSP00000218436:p.His519Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.H519Q	ENST00000218436.6	37	c.1557	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745477	0.03065	.	.	ENSG00000102313	ENST00000218436	T	0.10288	2.89	3.3	1.27	0.21489	.	0.606401	0.16235	U	0.223408	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.42965	-0.9420	10	0.12766	T	0.61	.	2.3145	0.04195	0.1221:0.1836:0.5055:0.1889	.	519	Q6UXX5	ITH5L_HUMAN	Q	519	ENSP00000218436:H519Q	ENSP00000218436:H519Q	H	-	3	2	ITIH5L	54801675	0.000000	0.05858	0.967000	0.41034	0.608000	0.37181	-0.173000	0.09854	0.258000	0.21686	-0.195000	0.12781	CAC	ITIH6	-	NULL	ENSG00000102313		0.627	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	14	0.00	0	G	NM_198510		54784950	54784950	-1	no_errors	ENST00000218436	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.181	C
KCNA4	3739	genome.wustl.edu	37	11	30033317	30033317	+	Silent	SNP	G	G	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr11:30033317G>T	ENST00000328224.6	-	2	2142	c.909C>A	c.(907-909)tcC>tcA	p.S303S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	303					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTGCAGGACTGGAGCTCTCTG	0.507																																						dbGAP											0													72.0	67.0	69.0					11																	30033317		1950	4156	6106	-	-	-	SO:0001819	synonymous_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.909C>A	11.37:g.30033317G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S303	ENST00000328224.6	37	c.909	CCDS41629.1	11																																																																																			KCNA4	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000182255		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	30	0.00	0	G	NM_002233		30033317	30033317	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	silent	8	75.76	25	SNP	0.999	T
KIAA0408	9729	genome.wustl.edu	37	6	127767979	127767979	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr6:127767979C>A	ENST00000483725.3	-	5	1821	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	495										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CATTGGTTTTCCAAATACCGG	0.463																																						dbGAP											0													147.0	137.0	140.0					6																	127767979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1485G>T	6.37:g.127767979C>A	ENSP00000435150:p.Trp495Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.W495C	ENST00000483725.3	37	c.1485	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900581	0.33535	.	.	ENSG00000189367	ENST00000483725	T	0.27890	1.64	4.55	4.55	0.56014	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.37377	D	0.911865	P	0.51791	0.948	P	0.47162	0.54	T	0.04294	-1.0962	9	0.56958	D	0.05	0.2713	11.4937	0.50396	0.0:0.9052:0.0:0.0948	.	495	Q6ZU52	K0408_HUMAN	C	495	ENSP00000435150:W495C	ENSP00000435150:W495C	W	-	3	0	KIAA0408	127809672	0.905000	0.30787	0.978000	0.43139	0.822000	0.46500	1.544000	0.36158	2.362000	0.80069	0.655000	0.94253	TGG	KIAA0408	-	NULL	ENSG00000189367		0.463	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	90	0.00	0	C	NM_014702		127767979	127767979	-1	no_errors	ENST00000483725	ensembl	human	novel	69_37n	missense	66	25.84	23	SNP	0.984	A
KIAA1731	85459	genome.wustl.edu	37	11	93463081	93463081	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr11:93463081C>T	ENST00000325212.6	+	28	7775	c.7613C>T	c.(7612-7614)tCt>tTt	p.S2538F	SNORA1_ENST00000384107.1_RNA|KIAA1731_ENST00000344196.4_Missense_Mutation_p.S718F|KIAA1731_ENST00000411936.1_Missense_Mutation_p.S2539F|SNORA8_ENST00000384574.1_RNA|KIAA1731_ENST00000531700.1_Missense_Mutation_p.S718F|SNORA32_ENST00000384072.1_RNA|SNORA25_ENST00000384384.1_RNA|TAF1D_ENST00000546088.1_5'Flank|SNORD6_ENST00000365444.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2538	ALMS motif.					centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCAGAGCATCTTTTCCTGAA	0.378																																						dbGAP											0													91.0	76.0	81.0					11																	93463081		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.7613C>T	11.37:g.93463081C>T	ENSP00000316681:p.Ser2538Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.S2539F	ENST00000325212.6	37	c.7616	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030543	0.54790	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.10573	2.86;2.87	5.04	-5.54	0.02544	.	.	.	.	.	T	0.06554	0.0168	L	0.34521	1.04	0.09310	N	1	B;B;B	0.19583	0.037;0.009;0.009	B;B;B	0.17433	0.018;0.016;0.016	T	0.43245	-0.9403	9	0.72032	D	0.01	.	3.2157	0.06697	0.1139:0.2149:0.4396:0.2317	.	2538;2539;718	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	F	2538;2539;718;718;551	ENSP00000316681:S2538F;ENSP00000406505:S2539F	ENSP00000316681:S2538F	S	+	2	0	KIAA1731	93102729	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.045000	0.14013	-0.615000	0.05679	0.543000	0.68304	TCT	KIAA1731	-	NULL	ENSG00000166004		0.378	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	76	0.00	0	C	NM_033395		93463081	93463081	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	0.000	T
KIF1A	547	genome.wustl.edu	37	2	241708612	241708612	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr2:241708612C>T	ENST00000320389.7	-	16	1566	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A479T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	470					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCATCTCGGCCAGCAGGGCT	0.612																																						dbGAP											0													41.0	46.0	44.0					2																	241708612		2015	4200	6215	-	-	-	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1408G>A	2.37:g.241708612C>T	ENSP00000322791:p.Ala470Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.A479T	ENST00000320389.7	37	c.1435	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387786	0.82902	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73575	-0.62;-0.7;-0.76	4.4	4.4	0.53042	.	0.117629	0.56097	U	0.000025	D	0.83257	0.5215	M	0.70842	2.15	0.80722	D	1	P;D;B	0.63880	0.935;0.993;0.266	P;P;B	0.59761	0.796;0.863;0.216	D	0.85264	0.1052	10	0.52906	T	0.07	.	17.0547	0.86530	0.0:1.0:0.0:0.0	.	479;479;470	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	470;479;479;479	ENSP00000322791:A470T;ENSP00000438388:A479T;ENSP00000384231:A479T	ENSP00000322791:A470T	A	-	1	0	KIF1A	241357285	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.626000	0.83164	2.021000	0.59480	0.555000	0.69702	GCC	KIF1A	-	NULL	ENSG00000130294		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	47	0.00	0	C	NM_138483		241708612	241708612	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	T
LRRC8C	84230	genome.wustl.edu	37	1	90179621	90179621	+	Missense_Mutation	SNP	G	G	A	rs200185887		TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr1:90179621G>A	ENST00000370454.4	+	3	1747	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	498					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGTCTTGAGCGTCAAGTTTGA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18558	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													81.0	78.0	79.0					1																	90179621		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1492G>A	1.37:g.90179621G>A	ENSP00000359483:p.Val498Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V498I	ENST00000370454.4	37	c.1492	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683446	0.29872	.	.	ENSG00000171488	ENST00000370454	T	0.22539	1.95	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	L	0.34521	1.04	0.54753	D	0.999989	P	0.46020	0.871	B	0.35813	0.211	T	0.13255	-1.0516	10	0.22109	T	0.4	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	498	Q8TDW0	LRC8C_HUMAN	I	498	ENSP00000359483:V498I	ENSP00000359483:V498I	V	+	1	0	LRRC8C	89952209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.679000	0.91253	0.650000	0.86243	GTC	LRRC8C	-	NULL	ENSG00000171488		0.488	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	51	0.00	0	G	NM_032270		90179621	90179621	+1	no_errors	ENST00000370454	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56171058	56171059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr5:56171058_56171059insA	ENST00000399503.3	+	10	1886_1887	c.1886_1887insA	c.(1885-1890)ggagatfs	p.D630fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	630					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTATCTCAGGAGATGTGGTGG	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1887dupA	5.37:g.56171059_56171059dupA	ENSP00000382423:p.Asp630fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.D630fs	ENST00000399503.3	37	c.1886_1887	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.530	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	70	0.00	0	-	XM_042066		56171058	56171059	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	46	43.90	36	INS	1.000:1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56177011	56177014	+	Frame_Shift_Del	DEL	ATAG	ATAG	-	rs570313957	byFrequency	TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	ATAG	ATAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr5:56177011_56177014delATAG	ENST00000399503.3	+	13	2281_2284	c.2281_2284delATAG	c.(2281-2286)atagatfs	p.ID761fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	761					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CCTTTGTCTTATAGATAGACTGTT	0.363																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2281_2284delATAG	5.37:g.56177015_56177018delATAG	ENSP00000382423:p.Ile761fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R763fs	ENST00000399503.3	37	c.2281_2284	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	166	0.00	0	ATAG	XM_042066		56177011	56177014	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	114	34.46	61	DEL	0.994:0.998:0.969:1.000	-
MED23	9439	genome.wustl.edu	37	6	131925359	131925359	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr6:131925359A>T	ENST00000368068.3	-	15	1894	c.1715T>A	c.(1714-1716)gTc>gAc	p.V572D	MED23_ENST00000368058.1_Missense_Mutation_p.V578D|MED23_ENST00000368060.3_Missense_Mutation_p.V572D|MED23_ENST00000545957.1_Missense_Mutation_p.V213D|MED23_ENST00000403834.3_Missense_Mutation_p.V578D|MED23_ENST00000354577.4_Missense_Mutation_p.V578D|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.V578D|MED23_ENST00000540546.1_Missense_Mutation_p.V578D	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	572					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCCATATAGACCAATAAACG	0.398																																						dbGAP											0													107.0	111.0	110.0					6																	131925359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1715T>A	6.37:g.131925359A>T	ENSP00000357047:p.Val572Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.V578D	ENST00000368068.3	37	c.1733	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443838	0.83993	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.64	4.48	0.54585	.	0.054431	0.64402	D	0.000001	D	0.84986	0.5594	L	0.57536	1.79	0.80722	D	1	D;P;D;D	0.89917	1.0;0.852;1.0;1.0	D;B;D;D	0.80764	0.99;0.267;0.994;0.989	D	0.86580	0.1853	10	0.72032	D	0.01	-4.2253	11.266	0.49110	0.9288:0.0:0.0712:0.0	.	213;578;572;578	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	D	578;572;578;572;578;213;578;578	ENSP00000346588:V578D;ENSP00000357047:V572D;ENSP00000384536:V578D;ENSP00000357039:V572D;ENSP00000357037:V578D;ENSP00000439977:V213D;ENSP00000357032:V578D;ENSP00000437818:V578D	ENSP00000346588:V578D	V	-	2	0	MED23	131967052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	0.980000	0.38523	0.533000	0.62120	GTC	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.398	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	88	0.00	0	A			131925359	131925359	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	missense	21	70.42	50	SNP	1.000	T
NAALADL1	10004	genome.wustl.edu	37	11	64822123	64822123	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr11:64822123C>T	ENST00000358658.3	-	5	718	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	NAALADL1_ENST00000356632.3_Missense_Mutation_p.E231K|NAALADL1_ENST00000339885.2_Missense_Mutation_p.E231K|NAALADL1_ENST00000355721.3_Missense_Mutation_p.E190K|NAALADL1_ENST00000355369.2_Missense_Mutation_p.E231K|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E231K	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.E231K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGAAAGGTTTCGTCGGGTGAG	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										dbGAP											1	Substitution - Missense(1)	lung(1)											73.0	72.0	72.0					11																	64822123		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.691G>A	11.37:g.64822123C>T	ENSP00000351484:p.Glu231Lys	Somatic	1079	WXS	Illumina GAIIx	Phase_IV	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E231K	ENST00000358658.3	37	c.691	CCDS31604.1	11	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218728	0.22373	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.7	0.568	0.17333	.	0.739124	0.13415	N	0.389541	T	0.29749	0.0743	L	0.29908	0.895	0.32549	N	0.532669	B	0.25351	0.124	B	0.20577	0.03	T	0.32481	-0.9905	10	0.10377	T	0.69	-17.7308	17.0211	0.86434	0.0:0.2919:0.7081:0.0	.	231	Q9UQQ1	NALDL_HUMAN	K	231;231;231;231;231;190;231	ENSP00000351484:E231K;ENSP00000347530:E231K;ENSP00000340111:E231K;ENSP00000344244:E231K;ENSP00000347955:E190K;ENSP00000349045:E231K	ENSP00000340111:E231K	E	-	1	0	NAALADL1	64578699	0.915000	0.31059	0.082000	0.20525	0.287000	0.27160	1.823000	0.39062	-0.042000	0.13535	0.655000	0.94253	GAA	NAALADL1	-	pfam_Protease-assoc_domain	ENSG00000168060		0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	47	0.00	0	C	NM_005468		64822123	64822123	-1	no_errors	ENST00000358658	ensembl	human	known	69_37n	missense	57	10.94	7	SNP	0.413	T
OR2T35	403244	genome.wustl.edu	37	1	248801953	248801954	+	Frame_Shift_Ins	INS	-	-	T	rs140070233	byFrequency	TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr1:248801953_248801954insT	ENST00000317450.3	-	1	605_606	c.606_607insA	c.(604-609)tgctgcfs	p.C203fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGCACGCAGCAGGCATACA	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.606_607insA	1.37:g.248801953_248801954insT	ENSP00000324369:p.Cys203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEY7	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C202fs	ENST00000317450.3	37	c.607_606	CCDS31123.1	1																																																																																			OR2T35	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000177151		0.525	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T35	HGNC	protein_coding	OTTHUMT00000097130.1	19	0.00	0	-	NM_001001827		248801953	248801954	-1	no_errors	ENST00000317450	ensembl	human	known	69_37n	frame_shift_ins	7	30.00	3	INS	0.101:0.095	T
PLXNA3	55558	genome.wustl.edu	37	X	153694159	153694159	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chrX:153694159G>A	ENST00000369682.3	+	13	2676	c.2501G>A	c.(2500-2502)gGc>gAc	p.G834D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	834					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCAGAAGGGCACCCGGTGC	0.672																																						dbGAP											0													23.0	30.0	27.0					X																	153694159		2198	4295	6493	-	-	-	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2501G>A	X.37:g.153694159G>A	ENSP00000358696:p.Gly834Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G834D	ENST00000369682.3	37	c.2501	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643590	0.29246	.	.	ENSG00000130827	ENST00000369682	T	0.17054	2.3	5.07	3.96	0.45880	.	0.105573	0.64402	D	0.000008	T	0.10078	0.0247	N	0.08118	0	0.29997	N	0.816373	B	0.23058	0.079	B	0.36766	0.232	T	0.13415	-1.0510	10	0.31617	T	0.26	.	6.7494	0.23480	0.2554:0.0:0.7446:0.0	.	834	P51805	PLXA3_HUMAN	D	834	ENSP00000358696:G834D	ENSP00000358696:G834D	G	+	2	0	PLXNA3	153347353	0.932000	0.31603	0.758000	0.31321	0.498000	0.33706	2.085000	0.41634	2.236000	0.73375	0.529000	0.55759	GGC	PLXNA3	-	pfam_Plexin_repeat,smart_Plexin-like	ENSG00000130827		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	19	0.00	0	G	NM_017514		153694159	153694159	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.918	A
PTMA	5757	genome.wustl.edu	37	2	232576068	232576070	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr2:232576068_232576070delAGA	ENST00000341369.7	+	2	247_249	c.56_58delAGA	c.(55-60)gagaag>gag	p.K21del	PTMA_ENST00000410064.1_In_Frame_Del_p.K47del|PTMA_ENST00000409321.1_In_Frame_Del_p.K42del|PTMA_ENST00000409683.1_In_Frame_Del_p.K21del|PTMA_ENST00000409115.3_In_Frame_Del_p.K21del|PTMA_ENST00000466801.1_3'UTR	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	21					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GACTTAAAGGAGAAGAAGGAAGT	0.522											OREG0015276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.56_58delAGA	2.37:g.232576071_232576073delAGA	ENSP00000344547:p.Lys21del	Somatic	2359	WXS	Illumina GAIIx	Phase_IV	Q15249|Q15592	In_Frame_Del	DEL	pfam_Pro/parathymosin	p.K21in_frame_del	ENST00000341369.7	37	c.56_58	CCDS42833.1	2																																																																																			PTMA	-	pfam_Pro/parathymosin	ENSG00000187514		0.522	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	35	0.00	0	AGA			232576068	232576070	+1	no_errors	ENST00000341369	ensembl	human	known	69_37n	in_frame_del	30	25.00	10	DEL	1.000:1.000:1.000	-
RYR3	6263	genome.wustl.edu	37	15	33944994	33944994	+	Silent	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr15:33944994C>T	ENST00000389232.4	+	32	4288	c.4218C>T	c.(4216-4218)aaC>aaT	p.N1406N	RYR3_ENST00000415757.3_Silent_p.N1406N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1406	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCGGAGCAACGTGGACCTGG	0.552																																						dbGAP											0													109.0	111.0	111.0					15																	33944994		2040	4206	6246	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4218C>T	15.37:g.33944994C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.N1406	ENST00000389232.4	37	c.4218	CCDS45210.1	15																																																																																			RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	80	0.00	0	C			33944994	33944994	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	65	24.42	21	SNP	0.980	T
TFE3	7030	genome.wustl.edu	37	X	48895568	48895568	+	Silent	SNP	G	G	A			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chrX:48895568G>A	ENST00000315869.7	-	5	1111	c.852C>T	c.(850-852)ccC>ccT	p.P284P	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	284					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGGTGCCTCCGGGCAGATAGC	0.478			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													62.0	42.0	49.0					X																	48895568		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.852C>T	X.37:g.48895568G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P284	ENST00000315869.7	37	c.852	CCDS14315.3	X																																																																																			TFE3	-	NULL	ENSG00000068323		0.478	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	40	0.00	0	G	NM_006521		48895568	48895568	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	silent	52	18.75	12	SNP	0.111	A
TTLL7	79739	genome.wustl.edu	37	1	84385515	84385515	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr1:84385515C>T	ENST00000260505.8	-	13	1744	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	456					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGGATAAATTCGTCTACAACA	0.348																																						dbGAP											0													52.0	56.0	55.0					1																	84385515		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1367G>A	1.37:g.84385515C>T	ENSP00000260505:p.Arg456Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R456Q	ENST00000260505.8	37	c.1367	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.371960	0.95923	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.08193	3.12	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00715	-1.1597	10	0.62326	D	0.03	.	19.2716	0.94013	0.0:1.0:0.0:0.0	.	456	Q6ZT98	TTLL7_HUMAN	Q	456;233;456	ENSP00000260505:R456Q	ENSP00000260505:R456Q	R	-	2	0	TTLL7	84158103	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.487000	0.81328	2.550000	0.86006	0.585000	0.79938	CGA	TTLL7	-	NULL	ENSG00000137941		0.348	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	16	0.00	0	C	NM_024686		84385515	84385515	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
ZNF440	126070	genome.wustl.edu	37	19	11942981	11942981	+	Silent	SNP	C	C	T	rs200251486		TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr19:11942981C>T	ENST00000304060.5	+	4	1154	c.990C>T	c.(988-990)caC>caT	p.H330H		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCAAACACACGTAAGATTGC	0.353																																						dbGAP											0													72.0	73.0	73.0					19																	11942981		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.990C>T	19.37:g.11942981C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1R9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H330	ENST00000304060.5	37	c.990	CCDS42503.1	19																																																																																			ZNF440	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171295		0.353	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	73	0.00	0	C	NM_152357		11942981	11942981	+1	no_errors	ENST00000304060	ensembl	human	known	69_37n	silent	76	17.39	16	SNP	0.081	T
ZNF800	168850	genome.wustl.edu	37	7	127014790	127014790	+	Silent	SNP	T	T	C			TCGA-E9-A1R6-01A-11D-A14G-09	TCGA-E9-A1R6-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b8a1805d-a43a-4433-a90b-01715e8cc554	760438b7-1942-4d0b-abf0-8b7a3ca51171	g.chr7:127014790T>C	ENST00000393313.1	-	5	1191	c.600A>G	c.(598-600)acA>acG	p.T200T	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Silent_p.T200T|ZNF800_ENST00000265827.3_Silent_p.T200T			Q2TB10	ZN800_HUMAN	zinc finger protein 800	200					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAACTTCATCTGTAACAATCT	0.438																																						dbGAP											0													121.0	120.0	120.0					7																	127014790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.600A>G	7.37:g.127014790T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T200	ENST00000393313.1	37	c.600	CCDS5795.1	7																																																																																			ZNF800	-	NULL	ENSG00000048405		0.438	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	85	0.00	0	T	NM_176814		127014790	127014790	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	silent	58	26.58	21	SNP	0.997	C
